Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27270 single nucleotide variant NM_004360.4(CDH1):c.2131C>G (p.Leu711Val) 121964871 MedGen:C0476089,OMIM:608089,SNOMED CT:C0476089;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857496 68857496 C G 27270 single nucleotide variant NM_004360.4(CDH1):c.2131C>G (p.Leu711Val) 121964871 MedGen:C0476089,OMIM:608089,SNOMED CT:C0476089;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823593 68823593 C G 27271 single nucleotide variant NM_004360.4(CDH1):c.1849G>A (p.Ala617Thr) 33935154 MedGen:C0476089,OMIM:608089,SNOMED CT:C0476089;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809;MedGen:CN169374 16 68856041 68856041 G A 27271 single nucleotide variant NM_004360.4(CDH1):c.1849G>A (p.Ala617Thr) 33935154 MedGen:C0476089,OMIM:608089,SNOMED CT:C0476089;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809;MedGen:CN169374 16 68822138 68822138 G A 27272 single nucleotide variant NM_004360.4(CDH1):c.2512A>G (p.Ser838Gly) 121964872 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:C0919267;MedGen:CN169374 16 68867265 68867265 A G 27272 single nucleotide variant NM_004360.4(CDH1):c.2512A>G (p.Ser838Gly) 121964872 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:C0919267;MedGen:CN169374 16 68833362 68833362 A G 27273 single nucleotide variant NM_004360.4(CDH1):c.781G>T (p.Glu261Ter) 121964873 MedGen:CN178073 16 68844193 68844193 G T 27273 single nucleotide variant NM_004360.4(CDH1):c.781G>T (p.Glu261Ter) 121964873 MedGen:CN178073 16 68810290 68810290 G T 27275 insertion CDH1, 1-BP INS, 2382C -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 27276 single nucleotide variant NM_004360.4(CDH1):c.2095C>T (p.Gln699Ter) 121964874 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857460 68857460 C T 27276 single nucleotide variant NM_004360.4(CDH1):c.2095C>T (p.Gln699Ter) 121964874 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823557 68823557 C T 27277 single nucleotide variant CDH1, IVS1AS, A-G, -2 -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 27278 single nucleotide variant NM_004360.4(CDH1):c.59G>A (p.Trp20Ter) 121964875 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772210 68772210 G A 27278 single nucleotide variant NM_004360.4(CDH1):c.59G>A (p.Trp20Ter) 121964875 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738307 68738307 G A 27279 single nucleotide variant NM_004360.4(CDH1):c.70G>T (p.Glu24Ter) 121964876 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772221 68772221 G T 27279 single nucleotide variant NM_004360.4(CDH1):c.70G>T (p.Glu24Ter) 121964876 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738318 68738318 G T 27280 single nucleotide variant NM_004360.4(CDH1):c.1792C>T (p.Arg598Ter) 121964877 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855984 68855984 C T 27280 single nucleotide variant NM_004360.4(CDH1):c.1792C>T (p.Arg598Ter) 121964877 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822081 68822081 C T 27281 insertion CDH1, 1-BP INS, 1711G -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 27282 insertion CDH1, 1-BP INS, 1588C -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 27283 single nucleotide variant NM_004360.4(CDH1):c.1901C>T (p.Ala634Val) 121964878 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856093 68856093 C T 27283 single nucleotide variant NM_004360.4(CDH1):c.1901C>T (p.Ala634Val) 121964878 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822190 68822190 C T 27284 single nucleotide variant NM_004360.4(CDH1):c.1018A>G (p.Thr340Ala) 116093741 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68846047 68846047 A G 27284 single nucleotide variant NM_004360.4(CDH1):c.1018A>G (p.Thr340Ala) 116093741 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68812144 68812144 A G 27285 single nucleotide variant NM_004360.4(CDH1):c.2494G>A (p.Val832Met) 35572355 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:C0038356;MedGen:CN169374 16 68867247 68867247 G A 27285 single nucleotide variant NM_004360.4(CDH1):c.2494G>A (p.Val832Met) 35572355 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:C0038356;MedGen:CN169374 16 68833344 68833344 G A 27286 single nucleotide variant NM_004360.4(CDH1):c.-124-161C>A 16260 - 16 68771034 68771034 C A 27286 single nucleotide variant NM_004360.4(CDH1):c.-124-161C>A 16260 - 16 68737131 68737131 C A 27287 single nucleotide variant CDH1, IVS4DS, T-A, +2 -1 MedGen:C3149287 na -1 -1 na na 27288 single nucleotide variant CDH1, 1137G-A -1 MedGen:C3149287 na -1 -1 na na 27289 insertion CDH1, 1-BP INS, 517A -1 MedGen:CN178073 na -1 -1 na na 27290 deletion nsv513771 -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 27291 indel CDH1, 828-BP DEL/3-BP INS, EX16 -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 33492 single nucleotide variant NM_004360.4(CDH1):c.1008G>T (p.Glu336Asp) 267606712 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845762 68845762 G T 33492 single nucleotide variant NM_004360.4(CDH1):c.1008G>T (p.Glu336Asp) 267606712 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811859 68811859 G T 50222 single nucleotide variant NM_004360.4(CDH1):c.1774G>A (p.Ala592Thr) 35187787 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809;MedGen:CN169374 16 68855966 68855966 G A 50222 single nucleotide variant NM_004360.4(CDH1):c.1774G>A (p.Ala592Thr) 35187787 MedGen:CN221572;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809;MedGen:CN169374 16 68822063 68822063 G A 50223 single nucleotide variant NM_004360.4(CDH1):c.1789C>T (p.Pro597Ser) 201625049 MedGen:CN221809 16 68855981 68855981 C T 50223 single nucleotide variant NM_004360.4(CDH1):c.1789C>T (p.Pro597Ser) 201625049 MedGen:CN221809 16 68822078 68822078 C T 50224 single nucleotide variant NM_004360.4(CDH1):c.2077G>A (p.Gly693Ser) 386833398 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 16 68857442 68857442 G A 50224 single nucleotide variant NM_004360.4(CDH1):c.2077G>A (p.Gly693Ser) 386833398 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 16 68823539 68823539 G A 50225 single nucleotide variant NM_004360.4(CDH1):c.671G>A (p.Arg224His) 201511530 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809;MedGen:CN169374 16 68842735 68842735 G A 50225 single nucleotide variant NM_004360.4(CDH1):c.671G>A (p.Arg224His) 201511530 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809;MedGen:CN169374 16 68808832 68808832 G A 50226 single nucleotide variant NM_004360.4(CDH1):c.892G>A (p.Ala298Thr) 142822590 Human Phenotype Ontology:HP:0003003,MedGen:CN002715;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:C0038356;MedGen:CN221809;MedGen:CN169374 16 68845646 68845646 G A 50226 single nucleotide variant NM_004360.4(CDH1):c.892G>A (p.Ala298Thr) 142822590 Human Phenotype Ontology:HP:0003003,MedGen:CN002715;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:C0038356;MedGen:CN221809;MedGen:CN169374 16 68811743 68811743 G A 133361 single nucleotide variant NM_004360.4(CDH1):c.-18C>T 587780111 MedGen:CN169374 16 68737398 68737398 C T 133361 single nucleotide variant NM_004360.4(CDH1):c.-18C>T 587780111 MedGen:CN169374 16 68771301 68771301 C T 133362 single nucleotide variant NM_004360.4(CDH1):c.1004G>A (p.Arg335Gln) 373364873 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68811855 68811855 G A 133362 single nucleotide variant NM_004360.4(CDH1):c.1004G>A (p.Arg335Gln) 373364873 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68845758 68845758 G A 133363 single nucleotide variant NM_004360.4(CDH1):c.1162G>A (p.Glu388Lys) 372838203 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813337 68813337 G A 133363 single nucleotide variant NM_004360.4(CDH1):c.1162G>A (p.Glu388Lys) 372838203 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847240 68847240 G A 133364 single nucleotide variant NM_004360.4(CDH1):c.1174G>A (p.Val392Ile) 141864044 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813349 68813349 G A 133364 single nucleotide variant NM_004360.4(CDH1):c.1174G>A (p.Val392Ile) 141864044 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847252 68847252 G A 133365 single nucleotide variant NM_004360.4(CDH1):c.1223C>T (p.Ala408Val) 138135866 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813398 68813398 C T 133365 single nucleotide variant NM_004360.4(CDH1):c.1223C>T (p.Ala408Val) 138135866 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847301 68847301 C T 133366 single nucleotide variant NM_004360.4(CDH1):c.1273G>A (p.Val425Ile) 570930882 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813448 68813448 G A 133366 single nucleotide variant NM_004360.4(CDH1):c.1273G>A (p.Val425Ile) 570930882 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847351 68847351 G A 133367 single nucleotide variant NM_004360.4(CDH1):c.1297G>A (p.Asp433Asn) 199886166 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813472 68813472 G A 133367 single nucleotide variant NM_004360.4(CDH1):c.1297G>A (p.Asp433Asn) 199886166 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847375 68847375 G A 133368 single nucleotide variant NM_004360.4(CDH1):c.1334A>C (p.Glu445Ala) 374398608 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815528 68815528 A C 133368 single nucleotide variant NM_004360.4(CDH1):c.1334A>C (p.Glu445Ala) 374398608 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849431 68849431 A C 133369 single nucleotide variant NM_004360.4(CDH1):c.1360G>A (p.Val454Ile) 587780112 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815554 68815554 G A 133369 single nucleotide variant NM_004360.4(CDH1):c.1360G>A (p.Val454Ile) 587780112 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849457 68849457 G A 133370 single nucleotide variant NM_004360.4(CDH1):c.1409C>T (p.Thr470Ile) 370864592 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815603 68815603 C T 133370 single nucleotide variant NM_004360.4(CDH1):c.1409C>T (p.Thr470Ile) 370864592 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849506 68849506 C T 133371 single nucleotide variant NM_004360.4(CDH1):c.1417G>A (p.Val473Ile) 36087757 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815611 68815611 G A 133371 single nucleotide variant NM_004360.4(CDH1):c.1417G>A (p.Val473Ile) 36087757 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849514 68849514 G A 133372 single nucleotide variant NM_004360.4(CDH1):c.1565+1G>A 587780113 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809 16 68815760 68815760 G A 133372 single nucleotide variant NM_004360.4(CDH1):c.1565+1G>A 587780113 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809 16 68849663 68849663 G A 133373 single nucleotide variant NM_004360.4(CDH1):c.1566-8C>G 587780114 MedGen:CN169374 16 68819272 68819272 C G 133373 single nucleotide variant NM_004360.4(CDH1):c.1566-8C>G 587780114 MedGen:CN169374 16 68853175 68853175 C G 133374 single nucleotide variant NM_004360.4(CDH1):c.1634G>A (p.Arg545Gln) 587780115 MedGen:CN169374 16 68819348 68819348 G A 133374 single nucleotide variant NM_004360.4(CDH1):c.1634G>A (p.Arg545Gln) 587780115 MedGen:CN169374 16 68853251 68853251 G A 133375 single nucleotide variant NM_004360.4(CDH1):c.177T>G (p.Asp59Glu) 587780116 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801683 68801683 T G 133375 single nucleotide variant NM_004360.4(CDH1):c.177T>G (p.Asp59Glu) 587780116 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835586 68835586 T G 133376 single nucleotide variant NM_004360.4(CDH1):c.188G>A (p.Arg63Gln) 587780117 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801694 68801694 G A 133376 single nucleotide variant NM_004360.4(CDH1):c.188G>A (p.Arg63Gln) 587780117 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835597 68835597 G A 133377 single nucleotide variant NM_004360.4(CDH1):c.2080G>A (p.Val694Ile) 587780118 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68823542 68823542 G A 133377 single nucleotide variant NM_004360.4(CDH1):c.2080G>A (p.Val694Ile) 587780118 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68857445 68857445 G A 133378 single nucleotide variant NM_004360.4(CDH1):c.2104G>A (p.Glu702Lys) 149127230 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823566 68823566 G A 133378 single nucleotide variant NM_004360.4(CDH1):c.2104G>A (p.Glu702Lys) 149127230 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857469 68857469 G A 133379 single nucleotide variant NM_004360.4(CDH1):c.2329G>A (p.Asp777Asn) 372989292 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829687 68829687 G A 133379 single nucleotide variant NM_004360.4(CDH1):c.2329G>A (p.Asp777Asn) 372989292 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863590 68863590 G A 133380 single nucleotide variant NM_004360.4(CDH1):c.2343A>T (p.Glu781Asp) 587780119 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829701 68829701 A T 133380 single nucleotide variant NM_004360.4(CDH1):c.2343A>T (p.Glu781Asp) 587780119 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863604 68863604 A T 133381 single nucleotide variant NM_004360.4(CDH1):c.2369C>T (p.Thr790Ile) 587780120 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829727 68829727 C T 133381 single nucleotide variant NM_004360.4(CDH1):c.2369C>T (p.Thr790Ile) 587780120 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863630 68863630 C T 133382 single nucleotide variant NM_004360.4(CDH1):c.2413G>A (p.Asp805Asn) 200894246 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829771 68829771 G A 133382 single nucleotide variant NM_004360.4(CDH1):c.2413G>A (p.Asp805Asn) 200894246 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863674 68863674 G A 133383 single nucleotide variant NM_004360.4(CDH1):c.2440-6C>G 139757930 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833284 68833284 C G 133383 single nucleotide variant NM_004360.4(CDH1):c.2440-6C>G 139757930 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867187 68867187 C G 133384 single nucleotide variant NM_004360.4(CDH1):c.2515G>A (p.Gly839Ser) 587780121 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68833365 68833365 G A 133384 single nucleotide variant NM_004360.4(CDH1):c.2515G>A (p.Gly839Ser) 587780121 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68867268 68867268 G A 133385 single nucleotide variant NM_004360.4(CDH1):c.2635G>A (p.Gly879Ser) 200911775 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68833485 68833485 G A 133385 single nucleotide variant NM_004360.4(CDH1):c.2635G>A (p.Gly879Ser) 200911775 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68867388 68867388 G A 133386 single nucleotide variant NM_004360.4(CDH1):c.2644G>A (p.Asp882Asn) 200104963 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68833494 68833494 G A 133386 single nucleotide variant NM_004360.4(CDH1):c.2644G>A (p.Asp882Asn) 200104963 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68867397 68867397 G A 133387 single nucleotide variant NM_004360.4(CDH1):c.316A>G (p.Thr106Ala) 587780122 MedGen:CN169374 16 68801822 68801822 A G 133387 single nucleotide variant NM_004360.4(CDH1):c.316A>G (p.Thr106Ala) 587780122 MedGen:CN169374 16 68835725 68835725 A G 133388 single nucleotide variant NM_004360.4(CDH1):c.532-18C>T 200673941 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68808675 68808675 C T 133388 single nucleotide variant NM_004360.4(CDH1):c.532-18C>T 200673941 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68842578 68842578 C T 133389 single nucleotide variant NM_004360.4(CDH1):c.670C>T (p.Arg224Cys) 200310662 MedGen:CN235161;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68808831 68808831 C T 133389 single nucleotide variant NM_004360.4(CDH1):c.670C>T (p.Arg224Cys) 200310662 MedGen:CN235161;MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68842734 68842734 C T 133390 single nucleotide variant NM_004360.4(CDH1):c.88C>A (p.Pro30Thr) 139866691 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221583;MedGen:CN169374 16 68738336 68738336 C A 133390 single nucleotide variant NM_004360.4(CDH1):c.88C>A (p.Pro30Thr) 139866691 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221583;MedGen:CN169374 16 68772239 68772239 C A 136440 single nucleotide variant NM_004360.4(CDH1):c.531+10G>C 33963999 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68842480 68842480 G C 136440 single nucleotide variant NM_004360.4(CDH1):c.531+10G>C 33963999 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68808577 68808577 G C 136457 single nucleotide variant NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) 587780537 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68844127 68844127 G A 136457 single nucleotide variant NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) 587780537 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68810224 68810224 G A 136468 single nucleotide variant NM_004360.4(CDH1):c.345G>A (p.Thr115=) 1801023 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835754 68835754 G A 136468 single nucleotide variant NM_004360.4(CDH1):c.345G>A (p.Thr115=) 1801023 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801851 68801851 G A 136517 single nucleotide variant NM_004360.4(CDH1):c.164T>G (p.Val55Gly) 587778174 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835573 68835573 T G 136517 single nucleotide variant NM_004360.4(CDH1):c.164T>G (p.Val55Gly) 587778174 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801670 68801670 T G 137583 indel NM_004360.4(CDH1):c.24_25delCTinsGC (p.Ser9Pro) 587778169 MedGen:CN169374 16 68771342 68771343 CT GC 137583 indel NM_004360.4(CDH1):c.24_25delCTinsGC (p.Ser9Pro) 587778169 MedGen:CN169374 16 68737439 68737440 CT GC 137584 single nucleotide variant NM_004360.4(CDH1):c.1370C>T (p.Thr457Met) 587778170 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849467 68849467 C T 137584 single nucleotide variant NM_004360.4(CDH1):c.1370C>T (p.Thr457Met) 587778170 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815564 68815564 C T 137585 single nucleotide variant NM_004360.4(CDH1):c.1888C>G (p.Leu630Val) 2276331 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68856080 68856080 C G 137585 single nucleotide variant NM_004360.4(CDH1):c.1888C>G (p.Leu630Val) 2276331 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68822177 68822177 C G 137586 single nucleotide variant NM_004360.4(CDH1):c.2053G>A (p.Val685Met) 550612843 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857418 68857418 G A 137586 single nucleotide variant NM_004360.4(CDH1):c.2053G>A (p.Val685Met) 550612843 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823515 68823515 G A 137587 single nucleotide variant NM_004360.4(CDH1):c.2074G>A (p.Ala692Thr) 376854556 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857439 68857439 G A 137587 single nucleotide variant NM_004360.4(CDH1):c.2074G>A (p.Ala692Thr) 376854556 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823536 68823536 G A 137588 single nucleotide variant NM_004360.4(CDH1):c.2246G>A (p.Arg749Gln) 530717933 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862158 68862158 G A 137588 single nucleotide variant NM_004360.4(CDH1):c.2246G>A (p.Arg749Gln) 530717933 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828255 68828255 G A 137589 single nucleotide variant NM_004360.4(CDH1):c.113C>T (p.Thr38Met) 587778171 MedGen:CN169374 16 68772264 68772264 C T 137589 single nucleotide variant NM_004360.4(CDH1):c.113C>T (p.Thr38Met) 587778171 MedGen:CN169374 16 68738361 68738361 C T 137590 single nucleotide variant NM_004360.4(CDH1):c.322A>G (p.Arg108Gly) 587778172 MedGen:CN169374 16 68835731 68835731 A G 137590 single nucleotide variant NM_004360.4(CDH1):c.322A>G (p.Arg108Gly) 587778172 MedGen:CN169374 16 68801828 68801828 A G 137591 single nucleotide variant NM_004360.4(CDH1):c.289C>G (p.His97Asp) 587778173 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68835698 68835698 C G 137591 single nucleotide variant NM_004360.4(CDH1):c.289C>G (p.His97Asp) 587778173 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68801795 68801795 C G 137592 single nucleotide variant NM_004360.4(CDH1):c.604G>A (p.Val202Ile) 546716073 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68842668 68842668 G A 137592 single nucleotide variant NM_004360.4(CDH1):c.604G>A (p.Val202Ile) 546716073 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68808765 68808765 G A 137593 single nucleotide variant NM_004360.4(CDH1):c.1214A>G (p.Asn405Ser) 587778175 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847292 68847292 A G 137593 single nucleotide variant NM_004360.4(CDH1):c.1214A>G (p.Asn405Ser) 587778175 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813389 68813389 A G 137594 single nucleotide variant NM_004360.4(CDH1):c.1225T>C (p.Trp409Arg) 587778176 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847303 68847303 T C 137594 single nucleotide variant NM_004360.4(CDH1):c.1225T>C (p.Trp409Arg) 587778176 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813400 68813400 T C 139767 single nucleotide variant NM_004360.4(CDH1):c.1003C>T (p.Arg335Ter) 587780784 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809 16 68811854 68811854 C T 139767 single nucleotide variant NM_004360.4(CDH1):c.1003C>T (p.Arg335Ter) 587780784 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809 16 68845757 68845757 C T 139768 single nucleotide variant NM_004360.4(CDH1):c.1173C>T (p.Val391=) 148080550 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813348 68813348 C T 139768 single nucleotide variant NM_004360.4(CDH1):c.1173C>T (p.Val391=) 148080550 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847251 68847251 C T 139769 single nucleotide variant NM_004360.4(CDH1):c.1224G>A (p.Ala408=) 200161607 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813399 68813399 G A 139769 single nucleotide variant NM_004360.4(CDH1):c.1224G>A (p.Ala408=) 200161607 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847302 68847302 G A 139770 single nucleotide variant NM_004360.4(CDH1):c.1308G>A (p.Leu436=) 557551011 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813483 68813483 G A 139770 single nucleotide variant NM_004360.4(CDH1):c.1308G>A (p.Leu436=) 557551011 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847386 68847386 G A 139771 single nucleotide variant NM_004360.4(CDH1):c.1416C>T (p.Thr472=) 139937234 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815610 68815610 C T 139771 single nucleotide variant NM_004360.4(CDH1):c.1416C>T (p.Thr472=) 139937234 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849513 68849513 C T 139772 single nucleotide variant NM_004360.4(CDH1):c.1565+6T>C 587780785 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815765 68815765 T C 139772 single nucleotide variant NM_004360.4(CDH1):c.1565+6T>C 587780785 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849668 68849668 T C 139773 single nucleotide variant NM_004360.4(CDH1):c.1689C>T (p.Ala563=) 587780786 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819403 68819403 C T 139773 single nucleotide variant NM_004360.4(CDH1):c.1689C>T (p.Ala563=) 587780786 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853306 68853306 C T 139774 single nucleotide variant NM_004360.4(CDH1):c.1865A>G (p.Asn622Ser) 147925149 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68822154 68822154 A G 139774 single nucleotide variant NM_004360.4(CDH1):c.1865A>G (p.Asn622Ser) 147925149 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68856057 68856057 A G 139775 single nucleotide variant NM_004360.4(CDH1):c.2020A>T (p.Asn674Tyr) 201637081 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823482 68823482 A T 139775 single nucleotide variant NM_004360.4(CDH1):c.2020A>T (p.Asn674Tyr) 201637081 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857385 68857385 A T 139776 single nucleotide variant NM_004360.4(CDH1):c.214G>A (p.Asp72Asn) 35606263 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801720 68801720 G A 139776 single nucleotide variant NM_004360.4(CDH1):c.214G>A (p.Asp72Asn) 35606263 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835623 68835623 G A 139777 single nucleotide variant NM_004360.4(CDH1):c.2287G>T (p.Glu763Ter) 587780787 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809 16 68828296 68828296 G T 139777 single nucleotide variant NM_004360.4(CDH1):c.2287G>T (p.Glu763Ter) 587780787 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN221809 16 68862199 68862199 G T 139778 single nucleotide variant NM_004360.4(CDH1):c.2439+10C>T 35236080 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829807 68829807 C T 139778 single nucleotide variant NM_004360.4(CDH1):c.2439+10C>T 35236080 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863710 68863710 C T 139779 single nucleotide variant NM_004360.4(CDH1):c.2589C>T (p.Asn863=) 115817750 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68833439 68833439 C T 139779 single nucleotide variant NM_004360.4(CDH1):c.2589C>T (p.Asn863=) 115817750 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68867342 68867342 C T 139780 indel NM_004360.3(CDH1):c.48+6_48+7delinsTT 786200947 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737469 68737470 CC TT 139780 indel NM_004360.3(CDH1):c.48+6_48+7delinsTT 786200947 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771372 68771373 CC TT 139781 single nucleotide variant NM_004360.4(CDH1):c.719A>G (p.Asn240Ser) 587780788 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810228 68810228 A G 139781 single nucleotide variant NM_004360.4(CDH1):c.719A>G (p.Asn240Ser) 587780788 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844131 68844131 A G 139782 single nucleotide variant NM_004360.4(CDH1):c.84C>T (p.Cys28=) 587780789 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738332 68738332 C T 139782 single nucleotide variant NM_004360.4(CDH1):c.84C>T (p.Cys28=) 587780789 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772235 68772235 C T 184309 single nucleotide variant NM_004360.4(CDH1):c.15C>T (p.Ser5=) 786201287 MedGen:C0027672,SNOMED CT:C0027672 16 68771333 68771333 C T 140394 single nucleotide variant NM_004360.4(CDH1):c.324A>G (p.Arg108=) 116542018 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801830 68801830 A G 140394 single nucleotide variant NM_004360.4(CDH1):c.324A>G (p.Arg108=) 116542018 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835733 68835733 A G 140395 single nucleotide variant NM_004360.4(CDH1):c.48+6C>T 3743674 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68737469 68737469 C T 140395 single nucleotide variant NM_004360.4(CDH1):c.48+6C>T 3743674 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68771372 68771372 C T 140396 single nucleotide variant NM_004360.4(CDH1):c.699C>T (p.His233=) 115494727 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68810208 68810208 C T 140396 single nucleotide variant NM_004360.4(CDH1):c.699C>T (p.His233=) 115494727 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68844111 68844111 C T 140397 single nucleotide variant NM_004360.4(CDH1):c.833-16C>G 33984587 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68811668 68811668 C G 140397 single nucleotide variant NM_004360.4(CDH1):c.833-16C>G 33984587 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68845571 68845571 C G 140398 single nucleotide variant NM_004360.4(CDH1):c.1272C>T (p.Val424=) 61756284 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813447 68813447 C T 140398 single nucleotide variant NM_004360.4(CDH1):c.1272C>T (p.Val424=) 61756284 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847350 68847350 C T 140399 single nucleotide variant NM_004360.4(CDH1):c.1353T>C (p.Ile451=) 114192597 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815547 68815547 T C 140399 single nucleotide variant NM_004360.4(CDH1):c.1353T>C (p.Ile451=) 114192597 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849450 68849450 T C 140400 single nucleotide variant NM_004360.4(CDH1):c.1680G>C (p.Thr560=) 35741240 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68819394 68819394 G C 140400 single nucleotide variant NM_004360.4(CDH1):c.1680G>C (p.Thr560=) 35741240 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68853297 68853297 G C 140401 single nucleotide variant NM_004360.4(CDH1):c.1744C>T (p.Leu582=) 1801025 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68822033 68822033 C T 140401 single nucleotide variant NM_004360.4(CDH1):c.1744C>T (p.Leu582=) 1801025 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68855936 68855936 C T 140402 single nucleotide variant NM_004360.4(CDH1):c.2292C>T (p.Asp764=) 61747636 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828301 68828301 C T 140402 single nucleotide variant NM_004360.4(CDH1):c.2292C>T (p.Asp764=) 61747636 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862204 68862204 C T 150470 single nucleotide variant NM_004360.4(CDH1):c.2264A>G (p.Tyr755Cys) 187289510 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68862176 68862176 A G 150470 single nucleotide variant NM_004360.4(CDH1):c.2264A>G (p.Tyr755Cys) 187289510 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68828273 68828273 A G 150495 deletion NM_004360.4(CDH1):c.2064_2065delTG (p.Cys688Terfs) 587781276 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823526 68823527 TG - 150495 deletion NM_004360.4(CDH1):c.2064_2065delTG (p.Cys688Terfs) 587781276 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857429 68857430 TG - 150498 single nucleotide variant NM_004360.4(CDH1):c.48+5C>G 77312180 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68771371 68771371 C G 150498 single nucleotide variant NM_004360.4(CDH1):c.48+5C>G 77312180 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68737468 68737468 C G 150512 single nucleotide variant NM_004360.4(CDH1):c.1475G>C (p.Arg492Thr) 587781286 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815669 68815669 G C 150512 single nucleotide variant NM_004360.4(CDH1):c.1475G>C (p.Arg492Thr) 587781286 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849572 68849572 G C 150517 duplication NM_004360.4(CDH1):c.521dupA (p.Asn174Lysfs) 587781290 MedGen:C0027672,SNOMED CT:C0027672 16 68842460 68842460 A AA 150517 duplication NM_004360.4(CDH1):c.521dupA (p.Asn174Lysfs) 587781290 MedGen:C0027672,SNOMED CT:C0027672 16 68808557 68808557 A AA 150520 single nucleotide variant NM_004360.4(CDH1):c.1937-13T>C 2276330 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857289 68857289 T C 150520 single nucleotide variant NM_004360.4(CDH1):c.1937-13T>C 2276330 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823386 68823386 T C 150534 single nucleotide variant NM_004360.4(CDH1):c.2519C>T (p.Ser840Phe) 587781300 MedGen:C0027672,SNOMED CT:C0027672 16 68867272 68867272 C T 150534 single nucleotide variant NM_004360.4(CDH1):c.2519C>T (p.Ser840Phe) 587781300 MedGen:C0027672,SNOMED CT:C0027672 16 68833369 68833369 C T 150554 single nucleotide variant NM_004360.4(CDH1):c.2336G>A (p.Arg779Gln) 587781311 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829694 68829694 G A 150554 single nucleotide variant NM_004360.4(CDH1):c.2336G>A (p.Arg779Gln) 587781311 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863597 68863597 G A 150555 single nucleotide variant NM_004360.4(CDH1):c.2474C>T (p.Pro825Leu) 587781312 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867227 68867227 C T 150555 single nucleotide variant NM_004360.4(CDH1):c.2474C>T (p.Pro825Leu) 587781312 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833324 68833324 C T 150567 single nucleotide variant NM_004360.4(CDH1):c.546A>C (p.Lys182Asn) 201141645 MedGen:C0027672,SNOMED CT:C0027672 16 68808707 68808707 A C 150567 single nucleotide variant NM_004360.4(CDH1):c.546A>C (p.Lys182Asn) 201141645 MedGen:C0027672,SNOMED CT:C0027672 16 68842610 68842610 A C 150576 single nucleotide variant NM_004360.4(CDH1):c.160A>G (p.Arg54Gly) 587781329 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68738408 68738408 A G 150576 single nucleotide variant NM_004360.4(CDH1):c.160A>G (p.Arg54Gly) 587781329 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68772311 68772311 A G 150585 single nucleotide variant NM_004360.4(CDH1):c.2396C>G (p.Pro799Arg) 587781335 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863657 68863657 C G 150585 single nucleotide variant NM_004360.4(CDH1):c.2396C>G (p.Pro799Arg) 587781335 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829754 68829754 C G 150586 single nucleotide variant NM_004360.4(CDH1):c.224T>G (p.Phe75Cys) 587781336 MedGen:C0027672,SNOMED CT:C0027672 16 68835633 68835633 T G 150586 single nucleotide variant NM_004360.4(CDH1):c.224T>G (p.Phe75Cys) 587781336 MedGen:C0027672,SNOMED CT:C0027672 16 68801730 68801730 T G 150592 single nucleotide variant NM_004360.4(CDH1):c.344C>T (p.Thr115Met) 370973869 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801850 68801850 C T 150592 single nucleotide variant NM_004360.4(CDH1):c.344C>T (p.Thr115Met) 370973869 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835753 68835753 C T 150609 single nucleotide variant NM_004360.4(CDH1):c.2254G>A (p.Val752Ile) 587781351 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828263 68828263 G A 150609 single nucleotide variant NM_004360.4(CDH1):c.2254G>A (p.Val752Ile) 587781351 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862166 68862166 G A 150678 single nucleotide variant NM_004360.4(CDH1):c.2117A>G (p.Gln706Arg) 587781401 MedGen:C0027672,SNOMED CT:C0027672 16 68823579 68823579 A G 150678 single nucleotide variant NM_004360.4(CDH1):c.2117A>G (p.Gln706Arg) 587781401 MedGen:C0027672,SNOMED CT:C0027672 16 68857482 68857482 A G 150682 single nucleotide variant NM_004360.4(CDH1):c.233G>A (p.Gly78Asp) 587781404 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801739 68801739 G A 150682 single nucleotide variant NM_004360.4(CDH1):c.233G>A (p.Gly78Asp) 587781404 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835642 68835642 G A 150724 single nucleotide variant NM_004360.4(CDH1):c.1132A>C (p.Thr378Pro) 587781432 MedGen:C0027672,SNOMED CT:C0027672 16 68812258 68812258 A C 150724 single nucleotide variant NM_004360.4(CDH1):c.1132A>C (p.Thr378Pro) 587781432 MedGen:C0027672,SNOMED CT:C0027672 16 68846161 68846161 A C 150728 single nucleotide variant NM_004360.4(CDH1):c.1568A>G (p.Tyr523Cys) 553907248 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68819282 68819282 A G 150728 single nucleotide variant NM_004360.4(CDH1):c.1568A>G (p.Tyr523Cys) 553907248 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68853185 68853185 A G 150730 single nucleotide variant NM_004360.4(CDH1):c.2363C>T (p.Ala788Val) 139096339 MedGen:C0027672,SNOMED CT:C0027672 16 68829721 68829721 C T 150730 single nucleotide variant NM_004360.4(CDH1):c.2363C>T (p.Ala788Val) 139096339 MedGen:C0027672,SNOMED CT:C0027672 16 68863624 68863624 C T 150874 single nucleotide variant NM_004360.4(CDH1):c.1988A>G (p.Tyr663Cys) 372182377 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857353 68857353 A G 150874 single nucleotide variant NM_004360.4(CDH1):c.1988A>G (p.Tyr663Cys) 372182377 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823450 68823450 A G 150875 single nucleotide variant NM_004360.4(CDH1):c.1927A>G (p.Asn643Asp) 587781540 MedGen:C0027672,SNOMED CT:C0027672 16 68856119 68856119 A G 150875 single nucleotide variant NM_004360.4(CDH1):c.1927A>G (p.Asn643Asp) 587781540 MedGen:C0027672,SNOMED CT:C0027672 16 68822216 68822216 A G 150920 single nucleotide variant NM_004360.4(CDH1):c.1565+1G>T 587780113 MedGen:C0027672,SNOMED CT:C0027672 16 68849663 68849663 G T 150920 single nucleotide variant NM_004360.4(CDH1):c.1565+1G>T 587780113 MedGen:C0027672,SNOMED CT:C0027672 16 68815760 68815760 G T 150975 single nucleotide variant NM_004360.4(CDH1):c.1153C>A (p.Pro385Thr) 587781612 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68847231 68847231 C A 150975 single nucleotide variant NM_004360.4(CDH1):c.1153C>A (p.Pro385Thr) 587781612 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68813328 68813328 C A 150978 single nucleotide variant NM_004360.4(CDH1):c.1897G>A (p.Gly633Arg) 587781615 MedGen:C0027672,SNOMED CT:C0027672 16 68856089 68856089 G A 150978 single nucleotide variant NM_004360.4(CDH1):c.1897G>A (p.Gly633Arg) 587781615 MedGen:C0027672,SNOMED CT:C0027672 16 68822186 68822186 G A 151002 single nucleotide variant NM_004360.4(CDH1):c.854C>T (p.Thr285Ile) 587781634 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68845608 68845608 C T 151002 single nucleotide variant NM_004360.4(CDH1):c.854C>T (p.Thr285Ile) 587781634 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68811705 68811705 C T 151085 single nucleotide variant NM_004360.4(CDH1):c.1930G>A (p.Asp644Asn) 587781696 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856122 68856122 G A 151085 single nucleotide variant NM_004360.4(CDH1):c.1930G>A (p.Asp644Asn) 587781696 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822219 68822219 G A 151090 single nucleotide variant NM_004360.4(CDH1):c.2017C>A (p.Gln673Lys) 587781701 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68857382 68857382 C A 151090 single nucleotide variant NM_004360.4(CDH1):c.2017C>A (p.Gln673Lys) 587781701 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68823479 68823479 C A 151157 single nucleotide variant NM_004360.4(CDH1):c.1184C>T (p.Thr395Ile) 587781751 MedGen:C0027672,SNOMED CT:C0027672 16 68847262 68847262 C T 151157 single nucleotide variant NM_004360.4(CDH1):c.1184C>T (p.Thr395Ile) 587781751 MedGen:C0027672,SNOMED CT:C0027672 16 68813359 68813359 C T 151164 single nucleotide variant NM_004360.4(CDH1):c.1019C>T (p.Thr340Met) 61747631 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68846048 68846048 C T 151164 single nucleotide variant NM_004360.4(CDH1):c.1019C>T (p.Thr340Met) 61747631 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68812145 68812145 C T 151170 single nucleotide variant NM_004360.4(CDH1):c.994G>A (p.Gly332Arg) 587781759 MedGen:C0027672,SNOMED CT:C0027672 16 68845748 68845748 G A 151170 single nucleotide variant NM_004360.4(CDH1):c.994G>A (p.Gly332Arg) 587781759 MedGen:C0027672,SNOMED CT:C0027672 16 68811845 68811845 G A 151177 single nucleotide variant NM_004360.4(CDH1):c.631A>T (p.Thr211Ser) 587781766 MedGen:C0027672,SNOMED CT:C0027672 16 68842695 68842695 A T 151177 single nucleotide variant NM_004360.4(CDH1):c.631A>T (p.Thr211Ser) 587781766 MedGen:C0027672,SNOMED CT:C0027672 16 68808792 68808792 A T 151191 single nucleotide variant NM_004360.4(CDH1):c.980G>T (p.Ser327Ile) 587781778 MedGen:C0027672,SNOMED CT:C0027672 16 68845734 68845734 G T 151191 single nucleotide variant NM_004360.4(CDH1):c.980G>T (p.Ser327Ile) 587781778 MedGen:C0027672,SNOMED CT:C0027672 16 68811831 68811831 G T 151198 single nucleotide variant NM_004360.4(CDH1):c.1300G>C (p.Gly434Arg) 587781783 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847378 68847378 G C 151198 single nucleotide variant NM_004360.4(CDH1):c.1300G>C (p.Gly434Arg) 587781783 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813475 68813475 G C 151252 single nucleotide variant NM_004360.4(CDH1):c.371G>A (p.Arg124His) 115418995 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68801877 68801877 G A 151252 single nucleotide variant NM_004360.4(CDH1):c.371G>A (p.Arg124His) 115418995 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68835780 68835780 G A 151284 single nucleotide variant NM_004360.4(CDH1):c.1896C>T (p.His632=) 33969373 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68822185 68822185 C T 151284 single nucleotide variant NM_004360.4(CDH1):c.1896C>T (p.His632=) 33969373 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68856088 68856088 C T 151301 single nucleotide variant NM_004360.4(CDH1):c.2201G>T (p.Arg734Ile) 587781859 MedGen:C0027672,SNOMED CT:C0027672 16 68828210 68828210 G T 151301 single nucleotide variant NM_004360.4(CDH1):c.2201G>T (p.Arg734Ile) 587781859 MedGen:C0027672,SNOMED CT:C0027672 16 68862113 68862113 G T 151306 single nucleotide variant NM_004360.4(CDH1):c.208T>C (p.Ser70Pro) 587781862 MedGen:C0027672,SNOMED CT:C0027672 16 68801714 68801714 T C 151306 single nucleotide variant NM_004360.4(CDH1):c.208T>C (p.Ser70Pro) 587781862 MedGen:C0027672,SNOMED CT:C0027672 16 68835617 68835617 T C 151353 single nucleotide variant NM_004360.4(CDH1):c.184G>A (p.Gly62Ser) 587781898 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801690 68801690 G A 151353 single nucleotide variant NM_004360.4(CDH1):c.184G>A (p.Gly62Ser) 587781898 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835593 68835593 G A 151375 single nucleotide variant NM_004360.4(CDH1):c.387+1G>A 587781919 MedGen:C0027672,SNOMED CT:C0027672 16 68801894 68801894 G A 151375 single nucleotide variant NM_004360.4(CDH1):c.387+1G>A 587781919 MedGen:C0027672,SNOMED CT:C0027672 16 68835797 68835797 G A 151387 single nucleotide variant NM_004360.4(CDH1):c.574A>G (p.Ile192Val) 376102028 MedGen:C0027672,SNOMED CT:C0027672 16 68808735 68808735 A G 151387 single nucleotide variant NM_004360.4(CDH1):c.574A>G (p.Ile192Val) 376102028 MedGen:C0027672,SNOMED CT:C0027672 16 68842638 68842638 A G 151473 single nucleotide variant NM_004360.4(CDH1):c.646G>A (p.Val216Met) 587781989 MedGen:C0027672,SNOMED CT:C0027672 16 68842710 68842710 G A 151473 single nucleotide variant NM_004360.4(CDH1):c.646G>A (p.Val216Met) 587781989 MedGen:C0027672,SNOMED CT:C0027672 16 68808807 68808807 G A 151515 single nucleotide variant NM_004360.4(CDH1):c.325A>C (p.Lys109Gln) 587782023 MedGen:C0027672,SNOMED CT:C0027672 16 68835734 68835734 A C 151515 single nucleotide variant NM_004360.4(CDH1):c.325A>C (p.Lys109Gln) 587782023 MedGen:C0027672,SNOMED CT:C0027672 16 68801831 68801831 A C 151516 single nucleotide variant NM_004360.4(CDH1):c.2450C>T (p.Ala817Val) 587782024 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68867203 68867203 C T 151516 single nucleotide variant NM_004360.4(CDH1):c.2450C>T (p.Ala817Val) 587782024 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68833300 68833300 C T 151517 single nucleotide variant NM_004360.4(CDH1):c.2572G>C (p.Asp858His) 587782025 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867325 68867325 G C 151517 single nucleotide variant NM_004360.4(CDH1):c.2572G>C (p.Asp858His) 587782025 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833422 68833422 G C 151519 single nucleotide variant NM_004360.4(CDH1):c.724G>A (p.Val242Ile) 111662525 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844136 68844136 G A 151519 single nucleotide variant NM_004360.4(CDH1):c.724G>A (p.Val242Ile) 111662525 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810233 68810233 G A 151524 single nucleotide variant NM_004360.4(CDH1):c.1298A>G (p.Asp433Gly) 376097289 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847376 68847376 A G 151524 single nucleotide variant NM_004360.4(CDH1):c.1298A>G (p.Asp433Gly) 376097289 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813473 68813473 A G 151542 single nucleotide variant NM_004360.4(CDH1):c.1178T>A (p.Ile393Asn) 34466743 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68847256 68847256 T A 151542 single nucleotide variant NM_004360.4(CDH1):c.1178T>A (p.Ile393Asn) 34466743 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68813353 68813353 T A 151548 single nucleotide variant NM_004360.4(CDH1):c.1687G>T (p.Ala563Ser) 587782044 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68853304 68853304 G T 151548 single nucleotide variant NM_004360.4(CDH1):c.1687G>T (p.Ala563Ser) 587782044 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68819401 68819401 G T 151568 single nucleotide variant NM_004360.4(CDH1):c.1684A>G (p.Thr562Ala) 587782061 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853301 68853301 A G 151568 single nucleotide variant NM_004360.4(CDH1):c.1684A>G (p.Thr562Ala) 587782061 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819398 68819398 A G 151584 single nucleotide variant NM_004360.4(CDH1):c.1024A>T (p.Thr342Ser) 587782073 MedGen:C0027672,SNOMED CT:C0027672 16 68846053 68846053 A T 151584 single nucleotide variant NM_004360.4(CDH1):c.1024A>T (p.Thr342Ser) 587782073 MedGen:C0027672,SNOMED CT:C0027672 16 68812150 68812150 A T 151634 single nucleotide variant NM_004360.4(CDH1):c.1423G>A (p.Val475Met) 587782113 MedGen:C0027672,SNOMED CT:C0027672 16 68849520 68849520 G A 151634 single nucleotide variant NM_004360.4(CDH1):c.1423G>A (p.Val475Met) 587782113 MedGen:C0027672,SNOMED CT:C0027672 16 68815617 68815617 G A 151665 deletion NM_004360.4(CDH1):c.2549_2550delCC (p.Ser850Phefs) 587782135 MedGen:C0027672,SNOMED CT:C0027672 16 68867302 68867303 CC - 151665 deletion NM_004360.4(CDH1):c.2549_2550delCC (p.Ser850Phefs) 587782135 MedGen:C0027672,SNOMED CT:C0027672 16 68833399 68833400 CC - 151698 single nucleotide variant NM_004360.4(CDH1):c.371G>C (p.Arg124Pro) 115418995 MedGen:C0027672,SNOMED CT:C0027672 16 68835780 68835780 G C 151698 single nucleotide variant NM_004360.4(CDH1):c.371G>C (p.Arg124Pro) 115418995 MedGen:C0027672,SNOMED CT:C0027672 16 68801877 68801877 G C 151704 single nucleotide variant NM_004360.4(CDH1):c.2398C>T (p.Arg800Cys) 587782162 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863659 68863659 C T 151704 single nucleotide variant NM_004360.4(CDH1):c.2398C>T (p.Arg800Cys) 587782162 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829756 68829756 C T 151725 single nucleotide variant NM_004360.4(CDH1):c.808T>G (p.Ser270Ala) 587776399 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68844220 68844220 T G 151725 single nucleotide variant NM_004360.4(CDH1):c.808T>G (p.Ser270Ala) 587776399 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68810317 68810317 T G 151743 single nucleotide variant NM_004360.4(CDH1):c.1234G>A (p.Val412Ile) 587782189 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847312 68847312 G A 151743 single nucleotide variant NM_004360.4(CDH1):c.1234G>A (p.Val412Ile) 587782189 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813409 68813409 G A 151754 single nucleotide variant NM_004360.4(CDH1):c.223T>C (p.Phe75Leu) 587782193 MedGen:C0027672,SNOMED CT:C0027672 16 68835632 68835632 T C 151754 single nucleotide variant NM_004360.4(CDH1):c.223T>C (p.Phe75Leu) 587782193 MedGen:C0027672,SNOMED CT:C0027672 16 68801729 68801729 T C 151859 single nucleotide variant NM_004360.4(CDH1):c.2253C>T (p.Asn751=) 33964119 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828262 68828262 C T 151859 single nucleotide variant NM_004360.4(CDH1):c.2253C>T (p.Asn751=) 33964119 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862165 68862165 C T 151953 single nucleotide variant NM_004360.4(CDH1):c.670C>A (p.Arg224Ser) 200310662 MedGen:C0027672,SNOMED CT:C0027672 16 68808831 68808831 C A 151953 single nucleotide variant NM_004360.4(CDH1):c.670C>A (p.Arg224Ser) 200310662 MedGen:C0027672,SNOMED CT:C0027672 16 68842734 68842734 C A 151999 single nucleotide variant NM_004360.4(CDH1):c.1118C>T (p.Pro373Leu) 587782359 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812244 68812244 C T 151999 single nucleotide variant NM_004360.4(CDH1):c.1118C>T (p.Pro373Leu) 587782359 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846147 68846147 C T 152000 single nucleotide variant NM_004360.4(CDH1):c.1433T>C (p.Leu478Pro) 35520415 MedGen:C0027672,SNOMED CT:C0027672 16 68849530 68849530 T C 152000 single nucleotide variant NM_004360.4(CDH1):c.1433T>C (p.Leu478Pro) 35520415 MedGen:C0027672,SNOMED CT:C0027672 16 68815627 68815627 T C 152008 single nucleotide variant NM_004360.4(CDH1):c.49-3C>T 587782366 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738294 68738294 C T 152008 single nucleotide variant NM_004360.4(CDH1):c.49-3C>T 587782366 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772197 68772197 C T 152020 single nucleotide variant NM_004360.4(CDH1):c.1244T>C (p.Ile415Thr) 587782372 MedGen:C0027672,SNOMED CT:C0027672 16 68813419 68813419 T C 152020 single nucleotide variant NM_004360.4(CDH1):c.1244T>C (p.Ile415Thr) 587782372 MedGen:C0027672,SNOMED CT:C0027672 16 68847322 68847322 T C 152028 single nucleotide variant NM_004360.4(CDH1):c.-9C>T 587782376 MedGen:C0027672,SNOMED CT:C0027672 16 68771310 68771310 C T 152028 single nucleotide variant NM_004360.4(CDH1):c.-9C>T 587782376 MedGen:C0027672,SNOMED CT:C0027672 16 68737407 68737407 C T 152032 single nucleotide variant NM_004360.4(CDH1):c.48+7C>T 587782380 MedGen:C0027672,SNOMED CT:C0027672 16 68771373 68771373 C T 152032 single nucleotide variant NM_004360.4(CDH1):c.48+7C>T 587782380 MedGen:C0027672,SNOMED CT:C0027672 16 68737470 68737470 C T 152035 single nucleotide variant NM_004360.4(CDH1):c.1685C>G (p.Thr562Arg) 587782381 MedGen:C0027672,SNOMED CT:C0027672 16 68853302 68853302 C G 152035 single nucleotide variant NM_004360.4(CDH1):c.1685C>G (p.Thr562Arg) 587782381 MedGen:C0027672,SNOMED CT:C0027672 16 68819399 68819399 C G 152044 single nucleotide variant NM_004360.4(CDH1):c.48+16T>C 587782389 MedGen:C0027672,SNOMED CT:C0027672 16 68771382 68771382 T C 152044 single nucleotide variant NM_004360.4(CDH1):c.48+16T>C 587782389 MedGen:C0027672,SNOMED CT:C0027672 16 68737479 68737479 T C 152052 single nucleotide variant NM_004360.4(CDH1):c.2390A>G (p.Tyr797Cys) 587782394 MedGen:C0027672,SNOMED CT:C0027672 16 68829748 68829748 A G 152052 single nucleotide variant NM_004360.4(CDH1):c.2390A>G (p.Tyr797Cys) 587782394 MedGen:C0027672,SNOMED CT:C0027672 16 68863651 68863651 A G 152071 single nucleotide variant NM_004360.4(CDH1):c.1501G>A (p.Val501Met) 368690400 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815695 68815695 G A 152071 single nucleotide variant NM_004360.4(CDH1):c.1501G>A (p.Val501Met) 368690400 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849598 68849598 G A 152077 single nucleotide variant NM_004360.4(CDH1):c.2399G>A (p.Arg800His) 370345996 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829757 68829757 G A 152077 single nucleotide variant NM_004360.4(CDH1):c.2399G>A (p.Arg800His) 370345996 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863660 68863660 G A 152149 single nucleotide variant NM_004360.4(CDH1):c.2204C>T (p.Ala735Val) 587782464 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828213 68828213 C T 152149 single nucleotide variant NM_004360.4(CDH1):c.2204C>T (p.Ala735Val) 587782464 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862116 68862116 C T 152151 single nucleotide variant NM_004360.4(CDH1):c.2380G>A (p.Val794Ile) 587782466 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829738 68829738 G A 152151 single nucleotide variant NM_004360.4(CDH1):c.2380G>A (p.Val794Ile) 587782466 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863641 68863641 G A 152169 duplication NM_004360.4(CDH1):c.41_46dupTGCTGC (p.Leu15_Gln16insLeuLeu) 587782476 MedGen:C0027672,SNOMED CT:C0027672 16 68771359 68771364 TGCTGC TGCTGCTGCTGC 152169 duplication NM_004360.4(CDH1):c.41_46dupTGCTGC (p.Leu15_Gln16insLeuLeu) 587782476 MedGen:C0027672,SNOMED CT:C0027672 16 68737456 68737461 TGCTGC TGCTGCTGCTGC 152176 single nucleotide variant NM_004360.4(CDH1):c.387+5G>A 113055163 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835801 68835801 G A 152176 single nucleotide variant NM_004360.4(CDH1):c.387+5G>A 113055163 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801898 68801898 G A 152183 single nucleotide variant NM_004360.4(CDH1):c.8C>G (p.Pro3Arg) 587782484 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68771326 68771326 C G 152183 single nucleotide variant NM_004360.4(CDH1):c.8C>G (p.Pro3Arg) 587782484 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68737423 68737423 C G 152232 deletion NM_004360.4(CDH1):c.1801_1803delTTC (p.Phe602del) 587782517 MedGen:C0027672,SNOMED CT:C0027672 16 68822090 68822092 TTC - 152232 deletion NM_004360.4(CDH1):c.1801_1803delTTC (p.Phe602del) 587782517 MedGen:C0027672,SNOMED CT:C0027672 16 68855993 68855995 TTC - 152260 single nucleotide variant NM_004360.4(CDH1):c.394G>A (p.Val132Ile) 142498771 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68842333 68842333 G A 152260 single nucleotide variant NM_004360.4(CDH1):c.394G>A (p.Val132Ile) 142498771 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68808430 68808430 G A 152279 single nucleotide variant NM_004360.4(CDH1):c.2387G>A (p.Arg796Gln) 587782549 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68829745 68829745 G A 152279 single nucleotide variant NM_004360.4(CDH1):c.2387G>A (p.Arg796Gln) 587782549 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68863648 68863648 G A 152292 single nucleotide variant NM_004360.4(CDH1):c.304G>A (p.Ala102Thr) 368492235 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801810 68801810 G A 152292 single nucleotide variant NM_004360.4(CDH1):c.304G>A (p.Ala102Thr) 368492235 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835713 68835713 G A 152306 single nucleotide variant NM_004360.4(CDH1):c.440C>G (p.Pro147Arg) 587782571 MedGen:C0027672,SNOMED CT:C0027672 16 68842379 68842379 C G 152306 single nucleotide variant NM_004360.4(CDH1):c.440C>G (p.Pro147Arg) 587782571 MedGen:C0027672,SNOMED CT:C0027672 16 68808476 68808476 C G 152324 single nucleotide variant NM_004360.4(CDH1):c.1103C>T (p.Thr368Ile) 367868307 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846132 68846132 C T 152324 single nucleotide variant NM_004360.4(CDH1):c.1103C>T (p.Thr368Ile) 367868307 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812229 68812229 C T 152346 single nucleotide variant NM_004360.4(CDH1):c.2634C>T (p.Gly878=) 2229044 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68833484 68833484 C T 152346 single nucleotide variant NM_004360.4(CDH1):c.2634C>T (p.Gly878=) 2229044 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68867387 68867387 C T 152347 single nucleotide variant NM_004360.4(CDH1):c.933C>G (p.Leu311=) 35539711 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811784 68811784 C G 152347 single nucleotide variant NM_004360.4(CDH1):c.933C>G (p.Leu311=) 35539711 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845687 68845687 C G 152373 single nucleotide variant NM_004360.4(CDH1):c.1385T>C (p.Phe462Ser) 587782622 MedGen:C0027672,SNOMED CT:C0027672 16 68815579 68815579 T C 152373 single nucleotide variant NM_004360.4(CDH1):c.1385T>C (p.Phe462Ser) 587782622 MedGen:C0027672,SNOMED CT:C0027672 16 68849482 68849482 T C 152374 single nucleotide variant NM_004360.4(CDH1):c.2600A>G (p.Asn867Ser) 587782623 MedGen:C0027672,SNOMED CT:C0027672 16 68833450 68833450 A G 152374 single nucleotide variant NM_004360.4(CDH1):c.2600A>G (p.Asn867Ser) 587782623 MedGen:C0027672,SNOMED CT:C0027672 16 68867353 68867353 A G 152406 single nucleotide variant NM_004360.4(CDH1):c.269G>A (p.Arg90Gln) 587782647 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801775 68801775 G A 152406 single nucleotide variant NM_004360.4(CDH1):c.269G>A (p.Arg90Gln) 587782647 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835678 68835678 G A 152444 single nucleotide variant NM_004360.4(CDH1):c.353C>G (p.Thr118Arg) 587782677 MedGen:C0027672,SNOMED CT:C0027672 16 68801859 68801859 C G 152444 single nucleotide variant NM_004360.4(CDH1):c.353C>G (p.Thr118Arg) 587782677 MedGen:C0027672,SNOMED CT:C0027672 16 68835762 68835762 C G 152484 single nucleotide variant NM_004360.4(CDH1):c.2076T>C (p.Ala692=) 1801552 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823538 68823538 T C 152484 single nucleotide variant NM_004360.4(CDH1):c.2076T>C (p.Ala692=) 1801552 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857441 68857441 T C 152502 single nucleotide variant NM_004360.4(CDH1):c.1351A>C (p.Ile451Leu) 377416092 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68815545 68815545 A C 152502 single nucleotide variant NM_004360.4(CDH1):c.1351A>C (p.Ile451Leu) 377416092 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68849448 68849448 A C 152516 single nucleotide variant NM_004360.4(CDH1):c.794A>T (p.Glu265Val) 587782728 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68810303 68810303 A T 152516 single nucleotide variant NM_004360.4(CDH1):c.794A>T (p.Glu265Val) 587782728 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68844206 68844206 A T 152602 single nucleotide variant NM_004360.4(CDH1):c.1147C>T (p.Gln383Ter) 587782798 MedGen:C0027672,SNOMED CT:C0027672 16 68847225 68847225 C T 152540 single nucleotide variant NM_004360.4(CDH1):c.1921C>T (p.Gln641Ter) 587782750 MedGen:C0027672,SNOMED CT:C0027672 16 68822210 68822210 C T 152540 single nucleotide variant NM_004360.4(CDH1):c.1921C>T (p.Gln641Ter) 587782750 MedGen:C0027672,SNOMED CT:C0027672 16 68856113 68856113 C T 152553 deletion NM_004360.4(CDH1):c.2440-6_2440-4delCTT 587782757 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833284 68833286 CTT - 152553 deletion NM_004360.4(CDH1):c.2440-6_2440-4delCTT 587782757 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867187 68867189 CTT - 152567 single nucleotide variant NM_004360.4(CDH1):c.1663C>G (p.His555Asp) 587782768 MedGen:C0027672,SNOMED CT:C0027672 16 68819377 68819377 C G 152567 single nucleotide variant NM_004360.4(CDH1):c.1663C>G (p.His555Asp) 587782768 MedGen:C0027672,SNOMED CT:C0027672 16 68853280 68853280 C G 152600 single nucleotide variant NM_004360.4(CDH1):c.1435G>C (p.Asp479His) 587782796 MedGen:C0027672,SNOMED CT:C0027672 16 68815629 68815629 G C 152600 single nucleotide variant NM_004360.4(CDH1):c.1435G>C (p.Asp479His) 587782796 MedGen:C0027672,SNOMED CT:C0027672 16 68849532 68849532 G C 152602 single nucleotide variant NM_004360.4(CDH1):c.1147C>T (p.Gln383Ter) 587782798 MedGen:C0027672,SNOMED CT:C0027672 16 68813322 68813322 C T 152619 deletion NM_004360.4(CDH1):c.2439+5_2439+8delGTAA 587782810 MedGen:C0027672,SNOMED CT:C0027672 16 68829802 68829805 GTAA - 152619 deletion NM_004360.4(CDH1):c.2439+5_2439+8delGTAA 587782810 MedGen:C0027672,SNOMED CT:C0027672 16 68863705 68863708 GTAA - 152638 single nucleotide variant NM_004360.4(CDH1):c.2318A>G (p.His773Arg) 587782823 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68829676 68829676 A G 152638 single nucleotide variant NM_004360.4(CDH1):c.2318A>G (p.His773Arg) 587782823 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68863579 68863579 A G 152657 single nucleotide variant NM_004360.4(CDH1):c.1840A>G (p.Ile614Val) 587782838 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68822129 68822129 A G 152657 single nucleotide variant NM_004360.4(CDH1):c.1840A>G (p.Ile614Val) 587782838 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68856032 68856032 A G 152658 single nucleotide variant NM_004360.4(CDH1):c.833-3C>T 587782839 MedGen:C0027672,SNOMED CT:C0027672 16 68811681 68811681 C T 152658 single nucleotide variant NM_004360.4(CDH1):c.833-3C>T 587782839 MedGen:C0027672,SNOMED CT:C0027672 16 68845584 68845584 C T 152671 single nucleotide variant NM_004360.4(CDH1):c.1898G>A (p.Gly633Glu) 587782850 MedGen:C0027672,SNOMED CT:C0027672 16 68822187 68822187 G A 152671 single nucleotide variant NM_004360.4(CDH1):c.1898G>A (p.Gly633Glu) 587782850 MedGen:C0027672,SNOMED CT:C0027672 16 68856090 68856090 G A 152682 single nucleotide variant NM_004360.4(CDH1):c.1136C>T (p.Thr379Met) 587782856 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812262 68812262 C T 152682 single nucleotide variant NM_004360.4(CDH1):c.1136C>T (p.Thr379Met) 587782856 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846165 68846165 C T 152690 single nucleotide variant NM_004360.4(CDH1):c.2095C>G (p.Gln699Glu) 121964874 MedGen:C0027672,SNOMED CT:C0027672 16 68823557 68823557 C G 152690 single nucleotide variant NM_004360.4(CDH1):c.2095C>G (p.Gln699Glu) 121964874 MedGen:C0027672,SNOMED CT:C0027672 16 68857460 68857460 C G 152698 single nucleotide variant NM_004360.4(CDH1):c.1039G>A (p.Ala347Thr) 587782869 MedGen:C0027672,SNOMED CT:C0027672 16 68812165 68812165 G A 152698 single nucleotide variant NM_004360.4(CDH1):c.1039G>A (p.Ala347Thr) 587782869 MedGen:C0027672,SNOMED CT:C0027672 16 68846068 68846068 G A 166156 single nucleotide variant NM_004360.4(CDH1):c.1023T>G (p.Tyr341Ter) 587776398 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812149 68812149 T G 166156 single nucleotide variant NM_004360.4(CDH1):c.1023T>G (p.Tyr341Ter) 587776398 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846052 68846052 T G 166260 single nucleotide variant NM_004360.4(CDH1):c.470T>C (p.Val157Ala) 587783046 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808506 68808506 T C 166260 single nucleotide variant NM_004360.4(CDH1):c.470T>C (p.Val157Ala) 587783046 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842409 68842409 T C 166261 single nucleotide variant NM_004360.4(CDH1):c.187C>T (p.Arg63Ter) 587783047 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801693 68801693 C T 166261 single nucleotide variant NM_004360.4(CDH1):c.187C>T (p.Arg63Ter) 587783047 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835596 68835596 C T 166262 deletion NM_004360.4(CDH1):c.2398delC (p.Arg800Alafs) 587783048 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829756 68829756 C - 166262 deletion NM_004360.4(CDH1):c.2398delC (p.Arg800Alafs) 587783048 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863659 68863659 C - 166263 single nucleotide variant NM_004360.4(CDH1):c.1454T>G (p.Ile485Ser) 587783049 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815648 68815648 T G 166263 single nucleotide variant NM_004360.4(CDH1):c.1454T>G (p.Ile485Ser) 587783049 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849551 68849551 T G 166264 single nucleotide variant NM_004360.4(CDH1):c.1137G>A (p.Thr379=) 587783050 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812263 68812263 G A 166264 single nucleotide variant NM_004360.4(CDH1):c.1137G>A (p.Thr379=) 587783050 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846166 68846166 G A 180760 single nucleotide variant NM_004360.4(CDH1):c.-41C>A 730881658 MedGen:CN169374 16 68737375 68737375 C A 180760 single nucleotide variant NM_004360.4(CDH1):c.-41C>A 730881658 MedGen:CN169374 16 68771278 68771278 C A 180761 duplication NM_004360.4(CDH1):c.-45_-41dupCGACC 730881651 MedGen:CN169374 16 68737371 68737375 CGACC CGACCCGACC 180761 duplication NM_004360.4(CDH1):c.-45_-41dupCGACC 730881651 MedGen:CN169374 16 68771274 68771278 CGACC CGACCCGACC 180762 single nucleotide variant NM_004360.4(CDH1):c.-26C>T 730881643 MedGen:CN169374 16 68737390 68737390 C T 180762 single nucleotide variant NM_004360.4(CDH1):c.-26C>T 730881643 MedGen:CN169374 16 68771293 68771293 C T 180763 single nucleotide variant NM_004360.4(CDH1):c.-24C>G 730881644 MedGen:CN169374 16 68771295 68771295 C G 180763 single nucleotide variant NM_004360.4(CDH1):c.-24C>G 730881644 MedGen:CN169374 16 68737392 68737392 C G 180764 single nucleotide variant NM_004360.4(CDH1):c.-22C>A 730881659 MedGen:CN169374 16 68737394 68737394 C A 180764 single nucleotide variant NM_004360.4(CDH1):c.-22C>A 730881659 MedGen:CN169374 16 68771297 68771297 C A 180765 single nucleotide variant NM_004360.4(CDH1):c.33G>C (p.Leu11=) 730881654 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68737448 68737448 G C 180765 single nucleotide variant NM_004360.4(CDH1):c.33G>C (p.Leu11=) 730881654 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68771351 68771351 G C 180766 deletion NM_004360.4(CDH1):c.48+15_48+16delCT 730881655 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737478 68737479 CT - 180766 deletion NM_004360.4(CDH1):c.48+15_48+16delCT 730881655 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771381 68771382 CT - 180767 single nucleotide variant NM_004360.4(CDH1):c.200C>G (p.Ala67Gly) 730881660 MedGen:CN169374 16 68801706 68801706 C G 180767 single nucleotide variant NM_004360.4(CDH1):c.200C>G (p.Ala67Gly) 730881660 MedGen:CN169374 16 68835609 68835609 C G 180768 single nucleotide variant NM_004360.4(CDH1):c.268C>T (p.Arg90Trp) 730881661 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68801774 68801774 C T 180768 single nucleotide variant NM_004360.4(CDH1):c.268C>T (p.Arg90Trp) 730881661 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68835677 68835677 C T 180769 single nucleotide variant NM_004360.4(CDH1):c.373C>T (p.Pro125Ser) 730881662 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68801879 68801879 C T 180769 single nucleotide variant NM_004360.4(CDH1):c.373C>T (p.Pro125Ser) 730881662 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68835782 68835782 C T 180770 single nucleotide variant NM_004360.4(CDH1):c.671G>T (p.Arg224Leu) 201511530 MedGen:CN169374 16 68808832 68808832 G T 180770 single nucleotide variant NM_004360.4(CDH1):c.671G>T (p.Arg224Leu) 201511530 MedGen:CN169374 16 68842735 68842735 G T 180771 single nucleotide variant NM_004360.4(CDH1):c.707C>A (p.Ser236Ter) 730881663 MedGen:CN221809 16 68810216 68810216 C A 180771 single nucleotide variant NM_004360.4(CDH1):c.707C>A (p.Ser236Ter) 730881663 MedGen:CN221809 16 68844119 68844119 C A 180772 single nucleotide variant NM_004360.4(CDH1):c.712A>C (p.Asn238His) 730881664 MedGen:CN169374 16 68810221 68810221 A C 180772 single nucleotide variant NM_004360.4(CDH1):c.712A>C (p.Asn238His) 730881664 MedGen:CN169374 16 68844124 68844124 A C 180773 single nucleotide variant NM_004360.4(CDH1):c.832+17G>C 373179391 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68810358 68810358 G C 180773 single nucleotide variant NM_004360.4(CDH1):c.832+17G>C 373179391 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68844261 68844261 G C 180774 single nucleotide variant NM_004360.4(CDH1):c.845T>C (p.Met282Thr) 730881652 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68811696 68811696 T C 180774 single nucleotide variant NM_004360.4(CDH1):c.845T>C (p.Met282Thr) 730881652 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68845599 68845599 T C 180775 single nucleotide variant NM_004360.4(CDH1):c.1020G>A (p.Thr340=) 61747632 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68812146 68812146 G A 180775 single nucleotide variant NM_004360.4(CDH1):c.1020G>A (p.Thr340=) 61747632 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68846049 68846049 G A 180776 single nucleotide variant NM_004360.4(CDH1):c.1143G>C (p.Lys381Asn) 143727462 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813318 68813318 G C 180776 single nucleotide variant NM_004360.4(CDH1):c.1143G>C (p.Lys381Asn) 143727462 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847221 68847221 G C 180777 single nucleotide variant NM_004360.4(CDH1):c.1171G>T (p.Val391Phe) 556110297 MedGen:CN169374 16 68813346 68813346 G T 180777 single nucleotide variant NM_004360.4(CDH1):c.1171G>T (p.Val391Phe) 556110297 MedGen:CN169374 16 68847249 68847249 G T 180778 single nucleotide variant NM_004360.4(CDH1):c.1289T>G (p.Val430Gly) 730881665 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813464 68813464 T G 180778 single nucleotide variant NM_004360.4(CDH1):c.1289T>G (p.Val430Gly) 730881665 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847367 68847367 T G 180779 single nucleotide variant NM_004360.4(CDH1):c.1477G>C (p.Val493Leu) 730881666 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815671 68815671 G C 180779 single nucleotide variant NM_004360.4(CDH1):c.1477G>C (p.Val493Leu) 730881666 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849574 68849574 G C 180780 single nucleotide variant NM_004360.4(CDH1):c.1610C>T (p.Pro537Leu) 730881667 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68819324 68819324 C T 180780 single nucleotide variant NM_004360.4(CDH1):c.1610C>T (p.Pro537Leu) 730881667 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68853227 68853227 C T 180781 single nucleotide variant NM_004360.4(CDH1):c.1622C>T (p.Ala541Val) 730881668 MedGen:CN169374 16 68853239 68853239 C T 180781 single nucleotide variant NM_004360.4(CDH1):c.1622C>T (p.Ala541Val) 730881668 MedGen:CN169374 16 68819336 68819336 C T 180782 single nucleotide variant NM_004360.4(CDH1):c.1864A>C (p.Asn622His) 367849039 MedGen:CN169374 16 68822153 68822153 A C 180782 single nucleotide variant NM_004360.4(CDH1):c.1864A>C (p.Asn622His) 367849039 MedGen:CN169374 16 68856056 68856056 A C 180783 duplication NM_004360.4(CDH1):c.1979dupT (p.Asp662Terfs) 730881653 MedGen:C0027672,SNOMED CT:C0027672 16 68823441 68823441 T TT 180783 duplication NM_004360.4(CDH1):c.1979dupT (p.Asp662Terfs) 730881653 MedGen:C0027672,SNOMED CT:C0027672 16 68857344 68857344 T TT 180784 single nucleotide variant NM_004360.4(CDH1):c.2026G>A (p.Asp676Asn) 115408226 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823488 68823488 G A 180784 single nucleotide variant NM_004360.4(CDH1):c.2026G>A (p.Asp676Asn) 115408226 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857391 68857391 G A 180785 single nucleotide variant NM_004360.4(CDH1):c.2091G>A (p.Lys697=) 61747635 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68823553 68823553 G A 180785 single nucleotide variant NM_004360.4(CDH1):c.2091G>A (p.Lys697=) 61747635 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68857456 68857456 G A 180786 single nucleotide variant NM_004360.4(CDH1):c.2103C>T (p.Val701=) 730881656 MedGen:CN169374 16 68823565 68823565 C T 180786 single nucleotide variant NM_004360.4(CDH1):c.2103C>T (p.Val701=) 730881656 MedGen:CN169374 16 68857468 68857468 C T 180787 single nucleotide variant NM_004360.4(CDH1):c.2165-17C>T 730881657 MedGen:CN169374 16 68828157 68828157 C T 180787 single nucleotide variant NM_004360.4(CDH1):c.2165-17C>T 730881657 MedGen:CN169374 16 68862060 68862060 C T 180788 single nucleotide variant NM_004360.4(CDH1):c.2165-15C>A 552874184 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828159 68828159 C A 180788 single nucleotide variant NM_004360.4(CDH1):c.2165-15C>A 552874184 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862062 68862062 C A 180789 single nucleotide variant NM_004360.4(CDH1):c.2219C>A (p.Pro740His) 730881669 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828228 68828228 C A 180789 single nucleotide variant NM_004360.4(CDH1):c.2219C>A (p.Pro740His) 730881669 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862131 68862131 C A 180790 single nucleotide variant NM_004360.4(CDH1):c.2520C>T (p.Ser840=) 140328601 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68833370 68833370 C T 180790 single nucleotide variant NM_004360.4(CDH1):c.2520C>T (p.Ser840=) 140328601 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68867273 68867273 C T 181147 insertion NM_004360.3:c.2164+17insA -1 MedGen:C0027672,SNOMED CT:C0027672 na -1 -1 na na 184309 single nucleotide variant NM_004360.4(CDH1):c.15C>T (p.Ser5=) 786201287 MedGen:C0027672,SNOMED CT:C0027672 16 68737430 68737430 C T 184310 single nucleotide variant NM_004360.4(CDH1):c.18C>A (p.Arg6=) 786201300 MedGen:C0027672,SNOMED CT:C0027672 16 68771336 68771336 C A 184310 single nucleotide variant NM_004360.4(CDH1):c.18C>A (p.Arg6=) 786201300 MedGen:C0027672,SNOMED CT:C0027672 16 68737433 68737433 C A 184311 single nucleotide variant NM_004360.4(CDH1):c.27G>A (p.Ser9=) 786201257 MedGen:C0027672,SNOMED CT:C0027672 16 68771345 68771345 G A 184308 single nucleotide variant NM_004360.4(CDH1):c.6C>T (p.Gly2=) 786201283 MedGen:C0027672,SNOMED CT:C0027672 16 68737421 68737421 C T 184307 single nucleotide variant NM_004360.4(CDH1):c.4G>A (p.Gly2Ser) 786201212 MedGen:C0027672,SNOMED CT:C0027672 16 68771322 68771322 G A 184307 single nucleotide variant NM_004360.4(CDH1):c.4G>A (p.Gly2Ser) 786201212 MedGen:C0027672,SNOMED CT:C0027672 16 68737419 68737419 G A 184308 single nucleotide variant NM_004360.4(CDH1):c.6C>T (p.Gly2=) 786201283 MedGen:C0027672,SNOMED CT:C0027672 16 68771324 68771324 C T 184311 single nucleotide variant NM_004360.4(CDH1):c.27G>A (p.Ser9=) 786201257 MedGen:C0027672,SNOMED CT:C0027672 16 68737442 68737442 G A 184312 single nucleotide variant NM_004360.4(CDH1):c.42G>A (p.Leu14=) 786201529 MedGen:C0027672,SNOMED CT:C0027672 16 68771360 68771360 G A 184312 single nucleotide variant NM_004360.4(CDH1):c.42G>A (p.Leu14=) 786201529 MedGen:C0027672,SNOMED CT:C0027672 16 68737457 68737457 G A 184313 single nucleotide variant NM_004360.4(CDH1):c.60G>A (p.Trp20Ter) 786203576 MedGen:C0027672,SNOMED CT:C0027672 16 68772211 68772211 G A 184313 single nucleotide variant NM_004360.4(CDH1):c.60G>A (p.Trp20Ter) 786203576 MedGen:C0027672,SNOMED CT:C0027672 16 68738308 68738308 G A 184314 single nucleotide variant NM_004360.4(CDH1):c.69G>A (p.Gln23=) 786202657 MedGen:C0027672,SNOMED CT:C0027672 16 68772220 68772220 G A 184314 single nucleotide variant NM_004360.4(CDH1):c.69G>A (p.Gln23=) 786202657 MedGen:C0027672,SNOMED CT:C0027672 16 68738317 68738317 G A 184315 single nucleotide variant NM_004360.4(CDH1):c.75G>A (p.Pro25=) 786202428 MedGen:C0027672,SNOMED CT:C0027672 16 68772226 68772226 G A 184315 single nucleotide variant NM_004360.4(CDH1):c.75G>A (p.Pro25=) 786202428 MedGen:C0027672,SNOMED CT:C0027672 16 68738323 68738323 G A 184316 single nucleotide variant NM_004360.4(CDH1):c.76G>T (p.Glu26Ter) 786201058 MedGen:C0027672,SNOMED CT:C0027672 16 68772227 68772227 G T 184316 single nucleotide variant NM_004360.4(CDH1):c.76G>T (p.Glu26Ter) 786201058 MedGen:C0027672,SNOMED CT:C0027672 16 68738324 68738324 G T 184317 single nucleotide variant NM_004360.4(CDH1):c.112A>G (p.Thr38Ala) 786203442 MedGen:C0027672,SNOMED CT:C0027672 16 68772263 68772263 A G 184317 single nucleotide variant NM_004360.4(CDH1):c.112A>G (p.Thr38Ala) 786203442 MedGen:C0027672,SNOMED CT:C0027672 16 68738360 68738360 A G 184318 single nucleotide variant NM_004360.4(CDH1):c.114G>A (p.Thr38=) 786201492 MedGen:C0027672,SNOMED CT:C0027672 16 68772265 68772265 G A 184318 single nucleotide variant NM_004360.4(CDH1):c.114G>A (p.Thr38=) 786201492 MedGen:C0027672,SNOMED CT:C0027672 16 68738362 68738362 G A 184319 single nucleotide variant NM_004360.4(CDH1):c.114G>C (p.Thr38=) 786201492 MedGen:C0027672,SNOMED CT:C0027672 16 68772265 68772265 G C 184319 single nucleotide variant NM_004360.4(CDH1):c.114G>C (p.Thr38=) 786201492 MedGen:C0027672,SNOMED CT:C0027672 16 68738362 68738362 G C 184320 single nucleotide variant NM_004360.4(CDH1):c.120G>A (p.Thr40=) 786201115 MedGen:C0027672,SNOMED CT:C0027672 16 68772271 68772271 G A 184320 single nucleotide variant NM_004360.4(CDH1):c.120G>A (p.Thr40=) 786201115 MedGen:C0027672,SNOMED CT:C0027672 16 68738368 68738368 G A 184321 single nucleotide variant NM_004360.4(CDH1):c.120G>C (p.Thr40=) 786201115 MedGen:C0027672,SNOMED CT:C0027672 16 68772271 68772271 G C 184321 single nucleotide variant NM_004360.4(CDH1):c.120G>C (p.Thr40=) 786201115 MedGen:C0027672,SNOMED CT:C0027672 16 68738368 68738368 G C 184322 single nucleotide variant NM_004360.4(CDH1):c.121G>A (p.Val41Met) 786202465 MedGen:C0027672,SNOMED CT:C0027672 16 68772272 68772272 G A 184322 single nucleotide variant NM_004360.4(CDH1):c.121G>A (p.Val41Met) 786202465 MedGen:C0027672,SNOMED CT:C0027672 16 68738369 68738369 G A 184323 single nucleotide variant NM_004360.4(CDH1):c.150C>T (p.Arg50=) 786201262 MedGen:C0027672,SNOMED CT:C0027672 16 68772301 68772301 C T 184323 single nucleotide variant NM_004360.4(CDH1):c.150C>T (p.Arg50=) 786201262 MedGen:C0027672,SNOMED CT:C0027672 16 68738398 68738398 C T 184324 single nucleotide variant NM_004360.4(CDH1):c.153C>T (p.Val51=) 786201265 MedGen:C0027672,SNOMED CT:C0027672 16 68772304 68772304 C T 184324 single nucleotide variant NM_004360.4(CDH1):c.153C>T (p.Val51=) 786201265 MedGen:C0027672,SNOMED CT:C0027672 16 68738401 68738401 C T 184325 duplication NM_004360.4(CDH1):c.163+4_163+6dupAGG 786202758 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772318 68772320 AGG AGGAGG 184325 duplication NM_004360.4(CDH1):c.163+4_163+6dupAGG 786202758 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738415 68738417 AGG AGGAGG 184326 single nucleotide variant NM_004360.4(CDH1):c.164-4G>A 780375749 MedGen:C0027672,SNOMED CT:C0027672 16 68835569 68835569 G A 184326 single nucleotide variant NM_004360.4(CDH1):c.164-4G>A 780375749 MedGen:C0027672,SNOMED CT:C0027672 16 68801666 68801666 G A 184327 single nucleotide variant NM_004360.4(CDH1):c.173A>T (p.Glu58Val) 786202570 MedGen:C0027672,SNOMED CT:C0027672 16 68835582 68835582 A T 184327 single nucleotide variant NM_004360.4(CDH1):c.173A>T (p.Glu58Val) 786202570 MedGen:C0027672,SNOMED CT:C0027672 16 68801679 68801679 A T 184328 single nucleotide variant NM_004360.4(CDH1):c.183C>T (p.Thr61=) 575896144 MedGen:C0027672,SNOMED CT:C0027672 16 68835592 68835592 C T 184328 single nucleotide variant NM_004360.4(CDH1):c.183C>T (p.Thr61=) 575896144 MedGen:C0027672,SNOMED CT:C0027672 16 68801689 68801689 C T 184329 single nucleotide variant NM_004360.4(CDH1):c.185G>T (p.Gly62Val) 786203727 MedGen:C0027672,SNOMED CT:C0027672 16 68835594 68835594 G T 184329 single nucleotide variant NM_004360.4(CDH1):c.185G>T (p.Gly62Val) 786203727 MedGen:C0027672,SNOMED CT:C0027672 16 68801691 68801691 G T 184330 deletion NM_004360.4(CDH1):c.202delT (p.Tyr68Ilefs) 786202151 MedGen:C0027672,SNOMED CT:C0027672 16 68835611 68835611 T - 184330 deletion NM_004360.4(CDH1):c.202delT (p.Tyr68Ilefs) 786202151 MedGen:C0027672,SNOMED CT:C0027672 16 68801708 68801708 T - 184331 single nucleotide variant NM_004360.4(CDH1):c.213C>T (p.Leu71=) 376667778 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835622 68835622 C T 184331 single nucleotide variant NM_004360.4(CDH1):c.213C>T (p.Leu71=) 376667778 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801719 68801719 C T 184332 single nucleotide variant NM_004360.4(CDH1):c.286A>T (p.Ile96Phe) 749306433 MedGen:C0027672,SNOMED CT:C0027672 16 68835695 68835695 A T 184332 single nucleotide variant NM_004360.4(CDH1):c.286A>T (p.Ile96Phe) 749306433 MedGen:C0027672,SNOMED CT:C0027672 16 68801792 68801792 A T 184333 single nucleotide variant NM_004360.4(CDH1):c.300C>G (p.Val100=) 786201463 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835709 68835709 C G 184333 single nucleotide variant NM_004360.4(CDH1):c.300C>G (p.Val100=) 786201463 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801806 68801806 C G 184334 single nucleotide variant NM_004360.4(CDH1):c.303C>T (p.Tyr101=) 150789339 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835712 68835712 C T 184334 single nucleotide variant NM_004360.4(CDH1):c.303C>T (p.Tyr101=) 150789339 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801809 68801809 C T 184335 single nucleotide variant NM_004360.4(CDH1):c.304G>T (p.Ala102Ser) 368492235 MedGen:C0027672,SNOMED CT:C0027672 16 68835713 68835713 G T 184335 single nucleotide variant NM_004360.4(CDH1):c.304G>T (p.Ala102Ser) 368492235 MedGen:C0027672,SNOMED CT:C0027672 16 68801810 68801810 G T 184336 single nucleotide variant NM_004360.4(CDH1):c.305C>T (p.Ala102Val) 786202689 MedGen:C0027672,SNOMED CT:C0027672 16 68835714 68835714 C T 184336 single nucleotide variant NM_004360.4(CDH1):c.305C>T (p.Ala102Val) 786202689 MedGen:C0027672,SNOMED CT:C0027672 16 68801811 68801811 C T 184337 single nucleotide variant NM_004360.4(CDH1):c.318C>T (p.Thr106=) 786201857 MedGen:C0027672,SNOMED CT:C0027672 16 68835727 68835727 C T 184337 single nucleotide variant NM_004360.4(CDH1):c.318C>T (p.Thr106=) 786201857 MedGen:C0027672,SNOMED CT:C0027672 16 68801824 68801824 C T 184338 single nucleotide variant NM_004360.4(CDH1):c.355G>A (p.Val119Met) 786203849 MedGen:C0027672,SNOMED CT:C0027672 16 68835764 68835764 G A 184338 single nucleotide variant NM_004360.4(CDH1):c.355G>A (p.Val119Met) 786203849 MedGen:C0027672,SNOMED CT:C0027672 16 68801861 68801861 G A 184339 single nucleotide variant NM_004360.4(CDH1):c.368A>G (p.His123Arg) 786202794 MedGen:C0027672,SNOMED CT:C0027672 16 68835777 68835777 A G 184339 single nucleotide variant NM_004360.4(CDH1):c.368A>G (p.His123Arg) 786202794 MedGen:C0027672,SNOMED CT:C0027672 16 68801874 68801874 A G 184340 single nucleotide variant NM_004360.4(CDH1):c.369C>G (p.His123Gln) 778954591 MedGen:C0027672,SNOMED CT:C0027672 16 68835778 68835778 C G 184340 single nucleotide variant NM_004360.4(CDH1):c.369C>G (p.His123Gln) 778954591 MedGen:C0027672,SNOMED CT:C0027672 16 68801875 68801875 C G 184341 single nucleotide variant NM_004360.4(CDH1):c.372C>A (p.Arg124=) 786201511 MedGen:C0027672,SNOMED CT:C0027672 16 68835781 68835781 C A 184341 single nucleotide variant NM_004360.4(CDH1):c.372C>A (p.Arg124=) 786201511 MedGen:C0027672,SNOMED CT:C0027672 16 68801878 68801878 C A 184342 single nucleotide variant NM_004360.4(CDH1):c.377C>T (p.Pro126Leu) 746703615 MedGen:C0027672,SNOMED CT:C0027672 16 68835786 68835786 C T 184342 single nucleotide variant NM_004360.4(CDH1):c.377C>T (p.Pro126Leu) 746703615 MedGen:C0027672,SNOMED CT:C0027672 16 68801883 68801883 C T 184343 single nucleotide variant NM_004360.4(CDH1):c.378G>A (p.Pro126=) 786201504 MedGen:C0027672,SNOMED CT:C0027672 16 68835787 68835787 G A 184343 single nucleotide variant NM_004360.4(CDH1):c.378G>A (p.Pro126=) 786201504 MedGen:C0027672,SNOMED CT:C0027672 16 68801884 68801884 G A 184344 single nucleotide variant NM_004360.4(CDH1):c.393C>G (p.Ser131=) 145430811 MedGen:C0027672,SNOMED CT:C0027672 16 68842332 68842332 C G 184344 single nucleotide variant NM_004360.4(CDH1):c.393C>G (p.Ser131=) 145430811 MedGen:C0027672,SNOMED CT:C0027672 16 68808429 68808429 C G 184345 single nucleotide variant NM_004360.4(CDH1):c.393C>T (p.Ser131=) 145430811 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842332 68842332 C T 184345 single nucleotide variant NM_004360.4(CDH1):c.393C>T (p.Ser131=) 145430811 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808429 68808429 C T 184346 single nucleotide variant NM_004360.4(CDH1):c.420C>G (p.Leu140=) 763562818 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842359 68842359 C G 184346 single nucleotide variant NM_004360.4(CDH1):c.420C>G (p.Leu140=) 763562818 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808456 68808456 C G 184347 single nucleotide variant NM_004360.4(CDH1):c.446T>C (p.Leu149Pro) 780955025 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842385 68842385 T C 184347 single nucleotide variant NM_004360.4(CDH1):c.446T>C (p.Leu149Pro) 780955025 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808482 68808482 T C 184348 single nucleotide variant NM_004360.4(CDH1):c.456G>C (p.Gln152His) 745589555 MedGen:C0027672,SNOMED CT:C0027672 16 68842395 68842395 G C 184348 single nucleotide variant NM_004360.4(CDH1):c.456G>C (p.Gln152His) 745589555 MedGen:C0027672,SNOMED CT:C0027672 16 68808492 68808492 G C 184349 single nucleotide variant NM_004360.4(CDH1):c.522C>T (p.Asn174=) 571581856 MedGen:C0027672,SNOMED CT:C0027672 16 68842461 68842461 C T 184349 single nucleotide variant NM_004360.4(CDH1):c.522C>T (p.Asn174=) 571581856 MedGen:C0027672,SNOMED CT:C0027672 16 68808558 68808558 C T 184350 single nucleotide variant NM_004360.4(CDH1):c.582C>T (p.Gly194=) 786202924 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842646 68842646 C T 184350 single nucleotide variant NM_004360.4(CDH1):c.582C>T (p.Gly194=) 786202924 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808743 68808743 C T 184351 single nucleotide variant NM_004360.4(CDH1):c.627A>G (p.Arg209=) 371601956 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842691 68842691 A G 184351 single nucleotide variant NM_004360.4(CDH1):c.627A>G (p.Arg209=) 371601956 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808788 68808788 A G 184352 single nucleotide variant NM_004360.4(CDH1):c.636A>G (p.Gly212=) 758991562 MedGen:C0027672,SNOMED CT:C0027672 16 68842700 68842700 A G 184352 single nucleotide variant NM_004360.4(CDH1):c.636A>G (p.Gly212=) 758991562 MedGen:C0027672,SNOMED CT:C0027672 16 68808797 68808797 A G 184353 single nucleotide variant NM_004360.4(CDH1):c.674T>C (p.Ile225Thr) 786203207 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808835 68808835 T C 184353 single nucleotide variant NM_004360.4(CDH1):c.674T>C (p.Ile225Thr) 786203207 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842738 68842738 T C 184354 single nucleotide variant NM_004360.4(CDH1):c.687+5G>C 786202423 MedGen:C0027672,SNOMED CT:C0027672 16 68842756 68842756 G C 184354 single nucleotide variant NM_004360.4(CDH1):c.687+5G>C 786202423 MedGen:C0027672,SNOMED CT:C0027672 16 68808853 68808853 G C 184355 single nucleotide variant NM_004360.4(CDH1):c.780C>T (p.Pro260=) 765090311 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844192 68844192 C T 184355 single nucleotide variant NM_004360.4(CDH1):c.780C>T (p.Pro260=) 765090311 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810289 68810289 C T 184356 single nucleotide variant NM_004360.4(CDH1):c.820G>A (p.Gly274Ser) 781513008 MedGen:C0027672,SNOMED CT:C0027672 16 68844232 68844232 G A 184356 single nucleotide variant NM_004360.4(CDH1):c.820G>A (p.Gly274Ser) 781513008 MedGen:C0027672,SNOMED CT:C0027672 16 68810329 68810329 G A 184357 single nucleotide variant NM_004360.4(CDH1):c.832+5A>G 756521764 MedGen:C0027672,SNOMED CT:C0027672 16 68844249 68844249 A G 184357 single nucleotide variant NM_004360.4(CDH1):c.832+5A>G 756521764 MedGen:C0027672,SNOMED CT:C0027672 16 68810346 68810346 A G 184358 single nucleotide variant NM_004360.4(CDH1):c.850G>A (p.Val284Ile) 786202364 MedGen:C0027672,SNOMED CT:C0027672 16 68845604 68845604 G A 184358 single nucleotide variant NM_004360.4(CDH1):c.850G>A (p.Val284Ile) 786202364 MedGen:C0027672,SNOMED CT:C0027672 16 68811701 68811701 G A 184359 single nucleotide variant NM_004360.4(CDH1):c.867G>A (p.Ala289=) 754143182 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845621 68845621 G A 184359 single nucleotide variant NM_004360.4(CDH1):c.867G>A (p.Ala289=) 754143182 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811718 68811718 G A 184360 single nucleotide variant NM_004360.4(CDH1):c.870C>T (p.Asp290=) 755215407 MedGen:C0027672,SNOMED CT:C0027672 16 68845624 68845624 C T 184360 single nucleotide variant NM_004360.4(CDH1):c.870C>T (p.Asp290=) 755215407 MedGen:C0027672,SNOMED CT:C0027672 16 68811721 68811721 C T 184361 single nucleotide variant NM_004360.4(CDH1):c.873T>C (p.Asp291=) 786202039 MedGen:C0027672,SNOMED CT:C0027672 16 68845627 68845627 T C 184361 single nucleotide variant NM_004360.4(CDH1):c.873T>C (p.Asp291=) 786202039 MedGen:C0027672,SNOMED CT:C0027672 16 68811724 68811724 T C 184362 single nucleotide variant NM_004360.4(CDH1):c.879G>A (p.Val293=) 778959722 MedGen:C0027672,SNOMED CT:C0027672 16 68845633 68845633 G A 184362 single nucleotide variant NM_004360.4(CDH1):c.879G>A (p.Val293=) 778959722 MedGen:C0027672,SNOMED CT:C0027672 16 68811730 68811730 G A 184363 single nucleotide variant NM_004360.4(CDH1):c.894C>T (p.Ala298=) 139110184 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845648 68845648 C T 184363 single nucleotide variant NM_004360.4(CDH1):c.894C>T (p.Ala298=) 139110184 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811745 68811745 C T 184364 single nucleotide variant NM_004360.4(CDH1):c.897C>T (p.Ala299=) 769799936 MedGen:C0027672,SNOMED CT:C0027672 16 68845651 68845651 C T 184364 single nucleotide variant NM_004360.4(CDH1):c.897C>T (p.Ala299=) 769799936 MedGen:C0027672,SNOMED CT:C0027672 16 68811748 68811748 C T 184365 single nucleotide variant NM_004360.4(CDH1):c.901G>A (p.Ala301Thr) 749056300 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845655 68845655 G A 184365 single nucleotide variant NM_004360.4(CDH1):c.901G>A (p.Ala301Thr) 749056300 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811752 68811752 G A 184366 single nucleotide variant NM_004360.4(CDH1):c.909C>T (p.Thr303=) 786202408 MedGen:C0027672,SNOMED CT:C0027672 16 68845663 68845663 C T 184366 single nucleotide variant NM_004360.4(CDH1):c.909C>T (p.Thr303=) 786202408 MedGen:C0027672,SNOMED CT:C0027672 16 68811760 68811760 C T 184367 single nucleotide variant NM_004360.4(CDH1):c.957T>A (p.Ile319=) 549252135 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845711 68845711 T A 184367 single nucleotide variant NM_004360.4(CDH1):c.957T>A (p.Ile319=) 549252135 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811808 68811808 T A 184368 single nucleotide variant NM_004360.4(CDH1):c.982G>A (p.Val328Met) 754228872 MedGen:C0027672,SNOMED CT:C0027672 16 68811833 68811833 G A 184368 single nucleotide variant NM_004360.4(CDH1):c.982G>A (p.Val328Met) 754228872 MedGen:C0027672,SNOMED CT:C0027672 16 68845736 68845736 G A 184369 single nucleotide variant NM_004360.4(CDH1):c.990C>T (p.Thr330=) 786203728 MedGen:C0027672,SNOMED CT:C0027672 16 68845744 68845744 C T 184369 single nucleotide variant NM_004360.4(CDH1):c.990C>T (p.Thr330=) 786203728 MedGen:C0027672,SNOMED CT:C0027672 16 68811841 68811841 C T 184370 deletion NM_004360.4(CDH1):c.1009_1010delAG (p.Ser337Phefs) 786201045 MedGen:C0027672,SNOMED CT:C0027672 16 68846038 68846039 AG - 184370 deletion NM_004360.4(CDH1):c.1009_1010delAG (p.Ser337Phefs) 786201045 MedGen:C0027672,SNOMED CT:C0027672 16 68812135 68812136 AG - 184371 single nucleotide variant NM_004360.4(CDH1):c.1017T>C (p.Pro339=) 746639322 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846046 68846046 T C 184371 single nucleotide variant NM_004360.4(CDH1):c.1017T>C (p.Pro339=) 746639322 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812143 68812143 T C 184372 single nucleotide variant NM_004360.4(CDH1):c.1107C>T (p.Asn369=) 786201189 MedGen:C0027672,SNOMED CT:C0027672 16 68846136 68846136 C T 184372 single nucleotide variant NM_004360.4(CDH1):c.1107C>T (p.Asn369=) 786201189 MedGen:C0027672,SNOMED CT:C0027672 16 68812233 68812233 C T 184373 single nucleotide variant NM_004360.4(CDH1):c.1119G>A (p.Pro373=) 758258272 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846148 68846148 G A 184373 single nucleotide variant NM_004360.4(CDH1):c.1119G>A (p.Pro373=) 758258272 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812245 68812245 G A 184374 single nucleotide variant NM_004360.4(CDH1):c.1137+2T>C 786202817 MedGen:C0027672,SNOMED CT:C0027672 16 68846168 68846168 T C 184374 single nucleotide variant NM_004360.4(CDH1):c.1137+2T>C 786202817 MedGen:C0027672,SNOMED CT:C0027672 16 68812265 68812265 T C 184399 single nucleotide variant NM_004360.4(CDH1):c.1422C>T (p.Thr474=) 375843744 MedGen:C0027672,SNOMED CT:C0027672 16 68815616 68815616 C T 184375 single nucleotide variant NM_004360.4(CDH1):c.1138-3C>T 36103202 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847213 68847213 C T 184375 single nucleotide variant NM_004360.4(CDH1):c.1138-3C>T 36103202 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813310 68813310 C T 184376 single nucleotide variant NM_004360.4(CDH1):c.1149G>C (p.Gln383His) 786202510 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847227 68847227 G C 184376 single nucleotide variant NM_004360.4(CDH1):c.1149G>C (p.Gln383His) 786202510 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813324 68813324 G C 184377 single nucleotide variant NM_004360.4(CDH1):c.1161C>T (p.Asn387=) 111266450 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847239 68847239 C T 184377 single nucleotide variant NM_004360.4(CDH1):c.1161C>T (p.Asn387=) 111266450 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813336 68813336 C T 184378 single nucleotide variant NM_004360.4(CDH1):c.1170C>T (p.Asn390=) 766505270 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847248 68847248 C T 184378 single nucleotide variant NM_004360.4(CDH1):c.1170C>T (p.Asn390=) 766505270 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813345 68813345 C T 184379 single nucleotide variant NM_004360.4(CDH1):c.1171G>A (p.Val391Ile) 556110297 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847249 68847249 G A 184379 single nucleotide variant NM_004360.4(CDH1):c.1171G>A (p.Val391Ile) 556110297 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813346 68813346 G A 184380 single nucleotide variant NM_004360.4(CDH1):c.1200T>C (p.Asp400=) 786201680 MedGen:C0027672,SNOMED CT:C0027672 16 68847278 68847278 T C 184380 single nucleotide variant NM_004360.4(CDH1):c.1200T>C (p.Asp400=) 786201680 MedGen:C0027672,SNOMED CT:C0027672 16 68813375 68813375 T C 184381 single nucleotide variant NM_004360.4(CDH1):c.1203T>C (p.Ala401=) 786201239 MedGen:C0027672,SNOMED CT:C0027672 16 68847281 68847281 T C 184381 single nucleotide variant NM_004360.4(CDH1):c.1203T>C (p.Ala401=) 786201239 MedGen:C0027672,SNOMED CT:C0027672 16 68813378 68813378 T C 184382 single nucleotide variant NM_004360.4(CDH1):c.1239C>T (p.Tyr413=) 36074916 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847317 68847317 C T 184382 single nucleotide variant NM_004360.4(CDH1):c.1239C>T (p.Tyr413=) 36074916 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813414 68813414 C T 184383 single nucleotide variant NM_004360.4(CDH1):c.1241C>A (p.Thr414Asn) 755571454 MedGen:C0027672,SNOMED CT:C0027672 16 68847319 68847319 C A 184383 single nucleotide variant NM_004360.4(CDH1):c.1241C>A (p.Thr414Asn) 755571454 MedGen:C0027672,SNOMED CT:C0027672 16 68813416 68813416 C A 184384 single nucleotide variant NM_004360.4(CDH1):c.1250A>G (p.Asn417Ser) 773441320 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847328 68847328 A G 184384 single nucleotide variant NM_004360.4(CDH1):c.1250A>G (p.Asn417Ser) 773441320 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813425 68813425 A G 184385 single nucleotide variant NM_004360.4(CDH1):c.1266A>G (p.Gln422=) 776805501 MedGen:C0027672,SNOMED CT:C0027672 16 68847344 68847344 A G 184385 single nucleotide variant NM_004360.4(CDH1):c.1266A>G (p.Gln422=) 776805501 MedGen:C0027672,SNOMED CT:C0027672 16 68813441 68813441 A G 184386 single nucleotide variant NM_004360.4(CDH1):c.1267T>C (p.Phe423Leu) 786202027 MedGen:C0027672,SNOMED CT:C0027672 16 68847345 68847345 T C 184386 single nucleotide variant NM_004360.4(CDH1):c.1267T>C (p.Phe423Leu) 786202027 MedGen:C0027672,SNOMED CT:C0027672 16 68813442 68813442 T C 184387 single nucleotide variant NM_004360.4(CDH1):c.1296C>G (p.Asn432Lys) 187862045 MedGen:C0027672,SNOMED CT:C0027672 16 68847374 68847374 C G 184387 single nucleotide variant NM_004360.4(CDH1):c.1296C>G (p.Asn432Lys) 187862045 MedGen:C0027672,SNOMED CT:C0027672 16 68813471 68813471 C G 184388 single nucleotide variant NM_004360.4(CDH1):c.1296C>T (p.Asn432=) 187862045 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847374 68847374 C T 184388 single nucleotide variant NM_004360.4(CDH1):c.1296C>T (p.Asn432=) 187862045 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813471 68813471 C T 184389 single nucleotide variant NM_004360.4(CDH1):c.1309A>C (p.Lys437Gln) 786201841 MedGen:C0027672,SNOMED CT:C0027672 16 68847387 68847387 A C 184389 single nucleotide variant NM_004360.4(CDH1):c.1309A>C (p.Lys437Gln) 786201841 MedGen:C0027672,SNOMED CT:C0027672 16 68813484 68813484 A C 184390 single nucleotide variant NM_004360.4(CDH1):c.1314A>G (p.Thr438=) 547316616 MedGen:C0027672,SNOMED CT:C0027672 16 68847392 68847392 A G 184390 single nucleotide variant NM_004360.4(CDH1):c.1314A>G (p.Thr438=) 547316616 MedGen:C0027672,SNOMED CT:C0027672 16 68813489 68813489 A G 184400 single nucleotide variant NM_004360.4(CDH1):c.1438G>A (p.Val480Met) 786202675 MedGen:C0027672,SNOMED CT:C0027672 16 68849535 68849535 G A 184391 single nucleotide variant NM_004360.4(CDH1):c.1315G>A (p.Ala439Thr) 758764445 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68847393 68847393 G A 184391 single nucleotide variant NM_004360.4(CDH1):c.1315G>A (p.Ala439Thr) 758764445 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68813490 68813490 G A 184392 single nucleotide variant NM_004360.4(CDH1):c.1323C>A (p.Gly441=) 763647680 MedGen:C0027672,SNOMED CT:C0027672 16 68815517 68815517 C A 184392 single nucleotide variant NM_004360.4(CDH1):c.1323C>A (p.Gly441=) 763647680 MedGen:C0027672,SNOMED CT:C0027672 16 68849420 68849420 C A 184393 single nucleotide variant NM_004360.4(CDH1):c.1341G>A (p.Lys447=) 767885546 MedGen:C0027672,SNOMED CT:C0027672 16 68815535 68815535 G A 184393 single nucleotide variant NM_004360.4(CDH1):c.1341G>A (p.Lys447=) 767885546 MedGen:C0027672,SNOMED CT:C0027672 16 68849438 68849438 G A 184394 single nucleotide variant NM_004360.4(CDH1):c.1348T>A (p.Tyr450Asn) 750741214 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849445 68849445 T A 184394 single nucleotide variant NM_004360.4(CDH1):c.1348T>A (p.Tyr450Asn) 750741214 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815542 68815542 T A 184395 single nucleotide variant NM_004360.4(CDH1):c.1359C>T (p.His453=) 114861467 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849456 68849456 C T 184395 single nucleotide variant NM_004360.4(CDH1):c.1359C>T (p.His453=) 114861467 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815553 68815553 C T 184396 single nucleotide variant NM_004360.4(CDH1):c.1374T>C (p.Asn458=) 786202640 MedGen:C0027672,SNOMED CT:C0027672 16 68849471 68849471 T C 184396 single nucleotide variant NM_004360.4(CDH1):c.1374T>C (p.Asn458=) 786202640 MedGen:C0027672,SNOMED CT:C0027672 16 68815568 68815568 T C 184397 single nucleotide variant NM_004360.4(CDH1):c.1392C>T (p.Val464=) 373811706 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849489 68849489 C T 184397 single nucleotide variant NM_004360.4(CDH1):c.1392C>T (p.Val464=) 373811706 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815586 68815586 C T 184398 single nucleotide variant NM_004360.4(CDH1):c.1402A>G (p.Thr468Ala) 745617489 MedGen:C0027672,SNOMED CT:C0027672 16 68849499 68849499 A G 184398 single nucleotide variant NM_004360.4(CDH1):c.1402A>G (p.Thr468Ala) 745617489 MedGen:C0027672,SNOMED CT:C0027672 16 68815596 68815596 A G 184399 single nucleotide variant NM_004360.4(CDH1):c.1422C>T (p.Thr474=) 375843744 MedGen:C0027672,SNOMED CT:C0027672 16 68849519 68849519 C T 184400 single nucleotide variant NM_004360.4(CDH1):c.1438G>A (p.Val480Met) 786202675 MedGen:C0027672,SNOMED CT:C0027672 16 68815632 68815632 G A 184401 single nucleotide variant NM_004360.4(CDH1):c.1455C>T (p.Ile485=) 786201613 MedGen:C0027672,SNOMED CT:C0027672 16 68849552 68849552 C T 184401 single nucleotide variant NM_004360.4(CDH1):c.1455C>T (p.Ile485=) 786201613 MedGen:C0027672,SNOMED CT:C0027672 16 68815649 68815649 C T 184402 single nucleotide variant NM_004360.4(CDH1):c.1465C>T (p.Pro489Ser) 786202508 MedGen:C0027672,SNOMED CT:C0027672 16 68849562 68849562 C T 184402 single nucleotide variant NM_004360.4(CDH1):c.1465C>T (p.Pro489Ser) 786202508 MedGen:C0027672,SNOMED CT:C0027672 16 68815659 68815659 C T 184403 single nucleotide variant NM_004360.4(CDH1):c.1478T>C (p.Val493Ala) 786202407 MedGen:C0027672,SNOMED CT:C0027672 16 68849575 68849575 T C 184403 single nucleotide variant NM_004360.4(CDH1):c.1478T>C (p.Val493Ala) 786202407 MedGen:C0027672,SNOMED CT:C0027672 16 68815672 68815672 T C 184404 single nucleotide variant NM_004360.4(CDH1):c.1484T>C (p.Val495Ala) 786202482 MedGen:C0027672,SNOMED CT:C0027672 16 68849581 68849581 T C 184404 single nucleotide variant NM_004360.4(CDH1):c.1484T>C (p.Val495Ala) 786202482 MedGen:C0027672,SNOMED CT:C0027672 16 68815678 68815678 T C 184405 single nucleotide variant NM_004360.4(CDH1):c.1488C>T (p.Ser496=) 751346548 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849585 68849585 C T 184405 single nucleotide variant NM_004360.4(CDH1):c.1488C>T (p.Ser496=) 751346548 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815682 68815682 C T 184406 single nucleotide variant NM_004360.4(CDH1):c.1500C>T (p.Gly500=) 781317341 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849597 68849597 C T 184406 single nucleotide variant NM_004360.4(CDH1):c.1500C>T (p.Gly500=) 781317341 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815694 68815694 C T 184407 single nucleotide variant NM_004360.4(CDH1):c.1524C>T (p.Tyr508=) 786201302 MedGen:C0027672,SNOMED CT:C0027672 16 68849621 68849621 C T 184407 single nucleotide variant NM_004360.4(CDH1):c.1524C>T (p.Tyr508=) 786201302 MedGen:C0027672,SNOMED CT:C0027672 16 68815718 68815718 C T 184408 single nucleotide variant NM_004360.4(CDH1):c.1550T>A (p.Met517Lys) 786203656 MedGen:C0027672,SNOMED CT:C0027672 16 68849647 68849647 T A 184408 single nucleotide variant NM_004360.4(CDH1):c.1550T>A (p.Met517Lys) 786203656 MedGen:C0027672,SNOMED CT:C0027672 16 68815744 68815744 T A 184409 single nucleotide variant NM_004360.4(CDH1):c.1565+5G>A 786201861 MedGen:C0027672,SNOMED CT:C0027672 16 68849667 68849667 G A 184409 single nucleotide variant NM_004360.4(CDH1):c.1565+5G>A 786201861 MedGen:C0027672,SNOMED CT:C0027672 16 68815764 68815764 G A 184410 single nucleotide variant NM_004360.4(CDH1):c.1570C>G (p.Arg524Gly) 373605261 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853187 68853187 C G 184410 single nucleotide variant NM_004360.4(CDH1):c.1570C>G (p.Arg524Gly) 373605261 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819284 68819284 C G 184411 single nucleotide variant NM_004360.4(CDH1):c.1572G>C (p.Arg524=) 771419468 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853189 68853189 G C 184411 single nucleotide variant NM_004360.4(CDH1):c.1572G>C (p.Arg524=) 771419468 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819286 68819286 G C 184412 single nucleotide variant NM_004360.4(CDH1):c.1585A>C (p.Thr529Pro) 776890776 MedGen:C0027672,SNOMED CT:C0027672 16 68853202 68853202 A C 184412 single nucleotide variant NM_004360.4(CDH1):c.1585A>C (p.Thr529Pro) 776890776 MedGen:C0027672,SNOMED CT:C0027672 16 68819299 68819299 A C 184413 single nucleotide variant NM_004360.4(CDH1):c.1590C>T (p.Ala530=) 786201805 MedGen:C0027672,SNOMED CT:C0027672 16 68853207 68853207 C T 184413 single nucleotide variant NM_004360.4(CDH1):c.1590C>T (p.Ala530=) 786201805 MedGen:C0027672,SNOMED CT:C0027672 16 68819304 68819304 C T 184414 single nucleotide variant NM_004360.4(CDH1):c.1623C>T (p.Ala541=) 376662384 MedGen:C0027672,SNOMED CT:C0027672 16 68853240 68853240 C T 184414 single nucleotide variant NM_004360.4(CDH1):c.1623C>T (p.Ala541=) 376662384 MedGen:C0027672,SNOMED CT:C0027672 16 68819337 68819337 C T 184415 single nucleotide variant NM_004360.4(CDH1):c.1630A>T (p.Thr544Ser) 786202107 MedGen:C0027672,SNOMED CT:C0027672 16 68853247 68853247 A T 184415 single nucleotide variant NM_004360.4(CDH1):c.1630A>T (p.Thr544Ser) 786202107 MedGen:C0027672,SNOMED CT:C0027672 16 68819344 68819344 A T 184416 single nucleotide variant NM_004360.4(CDH1):c.1680G>A (p.Thr560=) 35741240 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853297 68853297 G A 184416 single nucleotide variant NM_004360.4(CDH1):c.1680G>A (p.Thr560=) 35741240 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819394 68819394 G A 184417 single nucleotide variant NM_004360.4(CDH1):c.1690C>T (p.Leu564=) 786201342 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853307 68853307 C T 184417 single nucleotide variant NM_004360.4(CDH1):c.1690C>T (p.Leu564=) 786201342 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819404 68819404 C T 184418 single nucleotide variant NM_004360.4(CDH1):c.1697T>C (p.Ile566Thr) 763292288 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68853314 68853314 T C 184418 single nucleotide variant NM_004360.4(CDH1):c.1697T>C (p.Ile566Thr) 763292288 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68819411 68819411 T C 184419 single nucleotide variant NM_004360.4(CDH1):c.1703C>T (p.Thr568Ile) 786202712 MedGen:C0027672,SNOMED CT:C0027672 16 68853320 68853320 C T 184419 single nucleotide variant NM_004360.4(CDH1):c.1703C>T (p.Thr568Ile) 786202712 MedGen:C0027672,SNOMED CT:C0027672 16 68819417 68819417 C T 184420 single nucleotide variant NM_004360.4(CDH1):c.1711G>A (p.Gly571Ser) 786202290 MedGen:C0027672,SNOMED CT:C0027672 16 68853328 68853328 G A 184420 single nucleotide variant NM_004360.4(CDH1):c.1711G>A (p.Gly571Ser) 786202290 MedGen:C0027672,SNOMED CT:C0027672 16 68819425 68819425 G A 184421 deletion NM_004360.4(CDH1):c.1711+2_1711+7delTAAGGG 786203089 MedGen:C0027672,SNOMED CT:C0027672 16 68819427 68819432 TAAGGG - 184421 deletion NM_004360.4(CDH1):c.1711+2_1711+7delTAAGGG 786203089 MedGen:C0027672,SNOMED CT:C0027672 16 68853330 68853335 TAAGGG - 184422 single nucleotide variant NM_004360.4(CDH1):c.1728T>C (p.Thr576=) 786203525 MedGen:C0027672,SNOMED CT:C0027672 16 68855920 68855920 T C 184422 single nucleotide variant NM_004360.4(CDH1):c.1728T>C (p.Thr576=) 786203525 MedGen:C0027672,SNOMED CT:C0027672 16 68822017 68822017 T C 184423 single nucleotide variant NM_004360.4(CDH1):c.1774G>T (p.Ala592Ser) 35187787 MedGen:C0027672,SNOMED CT:C0027672 16 68855966 68855966 G T 184423 single nucleotide variant NM_004360.4(CDH1):c.1774G>T (p.Ala592Ser) 35187787 MedGen:C0027672,SNOMED CT:C0027672 16 68822063 68822063 G T 184424 single nucleotide variant NM_004360.4(CDH1):c.1775C>G (p.Ala592Gly) 786202059 MedGen:C0027672,SNOMED CT:C0027672 16 68855967 68855967 C G 184424 single nucleotide variant NM_004360.4(CDH1):c.1775C>G (p.Ala592Gly) 786202059 MedGen:C0027672,SNOMED CT:C0027672 16 68822064 68822064 C G 184425 single nucleotide variant NM_004360.4(CDH1):c.1789C>A (p.Pro597Thr) 201625049 MedGen:C0027672,SNOMED CT:C0027672 16 68822078 68822078 C A 184425 single nucleotide variant NM_004360.4(CDH1):c.1789C>A (p.Pro597Thr) 201625049 MedGen:C0027672,SNOMED CT:C0027672 16 68855981 68855981 C A 184426 single nucleotide variant NM_004360.4(CDH1):c.1797T>G (p.Thr599=) 786201932 MedGen:C0027672,SNOMED CT:C0027672 16 68855989 68855989 T G 184426 single nucleotide variant NM_004360.4(CDH1):c.1797T>G (p.Thr599=) 786201932 MedGen:C0027672,SNOMED CT:C0027672 16 68822086 68822086 T G 184427 single nucleotide variant NM_004360.4(CDH1):c.1834A>G (p.Ile612Val) 786202965 MedGen:C0027672,SNOMED CT:C0027672 16 68822123 68822123 A G 184427 single nucleotide variant NM_004360.4(CDH1):c.1834A>G (p.Ile612Val) 786202965 MedGen:C0027672,SNOMED CT:C0027672 16 68856026 68856026 A G 184428 single nucleotide variant NM_004360.4(CDH1):c.1858C>A (p.Pro620Thr) 786201888 MedGen:C0027672,SNOMED CT:C0027672 16 68856050 68856050 C A 184428 single nucleotide variant NM_004360.4(CDH1):c.1858C>A (p.Pro620Thr) 786201888 MedGen:C0027672,SNOMED CT:C0027672 16 68822147 68822147 C A 184429 single nucleotide variant NM_004360.4(CDH1):c.1858C>T (p.Pro620Ser) 786201888 MedGen:C0027672,SNOMED CT:C0027672 16 68856050 68856050 C T 184429 single nucleotide variant NM_004360.4(CDH1):c.1858C>T (p.Pro620Ser) 786201888 MedGen:C0027672,SNOMED CT:C0027672 16 68822147 68822147 C T 184430 single nucleotide variant NM_004360.4(CDH1):c.1860T>G (p.Pro620=) 786201329 MedGen:C0027672,SNOMED CT:C0027672 16 68856052 68856052 T G 184430 single nucleotide variant NM_004360.4(CDH1):c.1860T>G (p.Pro620=) 786201329 MedGen:C0027672,SNOMED CT:C0027672 16 68822149 68822149 T G 184431 single nucleotide variant NM_004360.4(CDH1):c.1866T>C (p.Asn622=) 786201678 MedGen:C0027672,SNOMED CT:C0027672 16 68856058 68856058 T C 184431 single nucleotide variant NM_004360.4(CDH1):c.1866T>C (p.Asn622=) 786201678 MedGen:C0027672,SNOMED CT:C0027672 16 68822155 68822155 T C 184432 single nucleotide variant NM_004360.4(CDH1):c.1869A>G (p.Thr623=) 786201138 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856061 68856061 A G 184432 single nucleotide variant NM_004360.4(CDH1):c.1869A>G (p.Thr623=) 786201138 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822158 68822158 A G 184433 single nucleotide variant NM_004360.4(CDH1):c.1893A>C (p.Thr631=) 786201452 MedGen:C0027672,SNOMED CT:C0027672 16 68856085 68856085 A C 184433 single nucleotide variant NM_004360.4(CDH1):c.1893A>C (p.Thr631=) 786201452 MedGen:C0027672,SNOMED CT:C0027672 16 68822182 68822182 A C 184434 single nucleotide variant NM_004360.4(CDH1):c.1902G>A (p.Ala634=) 754404223 MedGen:C0027672,SNOMED CT:C0027672 16 68856094 68856094 G A 184434 single nucleotide variant NM_004360.4(CDH1):c.1902G>A (p.Ala634=) 754404223 MedGen:C0027672,SNOMED CT:C0027672 16 68822191 68822191 G A 184435 single nucleotide variant NM_004360.4(CDH1):c.1929C>T (p.Asn643=) 374152504 MedGen:C0027672,SNOMED CT:C0027672 16 68856121 68856121 C T 184435 single nucleotide variant NM_004360.4(CDH1):c.1929C>T (p.Asn643=) 374152504 MedGen:C0027672,SNOMED CT:C0027672 16 68822218 68822218 C T 184436 single nucleotide variant NM_004360.4(CDH1):c.1949T>C (p.Ile650Thr) 747235838 MedGen:C0027672,SNOMED CT:C0027672 16 68857314 68857314 T C 184436 single nucleotide variant NM_004360.4(CDH1):c.1949T>C (p.Ile650Thr) 747235838 MedGen:C0027672,SNOMED CT:C0027672 16 68823411 68823411 T C 184437 single nucleotide variant NM_004360.4(CDH1):c.1950C>T (p.Ile650=) 786202320 MedGen:C0027672,SNOMED CT:C0027672 16 68857315 68857315 C T 184437 single nucleotide variant NM_004360.4(CDH1):c.1950C>T (p.Ile650=) 786202320 MedGen:C0027672,SNOMED CT:C0027672 16 68823412 68823412 C T 184438 single nucleotide variant NM_004360.4(CDH1):c.1977G>A (p.Glu659=) 368243190 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857342 68857342 G A 184438 single nucleotide variant NM_004360.4(CDH1):c.1977G>A (p.Glu659=) 368243190 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823439 68823439 G A 184439 single nucleotide variant NM_004360.4(CDH1):c.1996A>C (p.Asn666His) 150427791 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857361 68857361 A C 184439 single nucleotide variant NM_004360.4(CDH1):c.1996A>C (p.Asn666His) 150427791 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823458 68823458 A C 184440 deletion NM_004360.4(CDH1):c.1999delC (p.Leu667Serfs) 786202033 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 16 68857364 68857364 C - 184440 deletion NM_004360.4(CDH1):c.1999delC (p.Leu667Serfs) 786202033 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN221809 16 68823461 68823461 C - 184441 single nucleotide variant NM_004360.4(CDH1):c.2046G>A (p.Glu682=) 753209043 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857411 68857411 G A 184441 single nucleotide variant NM_004360.4(CDH1):c.2046G>A (p.Glu682=) 753209043 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823508 68823508 G A 184442 single nucleotide variant NM_004360.4(CDH1):c.2052C>T (p.Ser684=) 764379691 MedGen:C0027672,SNOMED CT:C0027672 16 68823514 68823514 C T 184442 single nucleotide variant NM_004360.4(CDH1):c.2052C>T (p.Ser684=) 764379691 MedGen:C0027672,SNOMED CT:C0027672 16 68857417 68857417 C T 184443 single nucleotide variant NM_004360.4(CDH1):c.2073C>T (p.Ala691=) 536104508 MedGen:C0027672,SNOMED CT:C0027672 16 68857438 68857438 C T 184443 single nucleotide variant NM_004360.4(CDH1):c.2073C>T (p.Ala691=) 536104508 MedGen:C0027672,SNOMED CT:C0027672 16 68823535 68823535 C T 184444 single nucleotide variant NM_004360.4(CDH1):c.2079C>T (p.Gly693=) 771993728 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857444 68857444 C T 184444 single nucleotide variant NM_004360.4(CDH1):c.2079C>T (p.Gly693=) 771993728 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823541 68823541 C T 184445 single nucleotide variant NM_004360.4(CDH1):c.2124T>A (p.Pro708=) 786201660 MedGen:C0027672,SNOMED CT:C0027672 16 68857489 68857489 T A 184445 single nucleotide variant NM_004360.4(CDH1):c.2124T>A (p.Pro708=) 786201660 MedGen:C0027672,SNOMED CT:C0027672 16 68823586 68823586 T A 184446 single nucleotide variant NM_004360.4(CDH1):c.2205G>A (p.Ala735=) 138493551 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862117 68862117 G A 184446 single nucleotide variant NM_004360.4(CDH1):c.2205G>A (p.Ala735=) 138493551 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828214 68828214 G A 184447 single nucleotide variant NM_004360.4(CDH1):c.2227C>T (p.Pro743Ser) 786203005 MedGen:C0027672,SNOMED CT:C0027672 16 68862139 68862139 C T 184447 single nucleotide variant NM_004360.4(CDH1):c.2227C>T (p.Pro743Ser) 786203005 MedGen:C0027672,SNOMED CT:C0027672 16 68828236 68828236 C T 184448 single nucleotide variant NM_004360.4(CDH1):c.2229C>G (p.Pro743=) 786203083 MedGen:C0027672,SNOMED CT:C0027672 16 68862141 68862141 C G 184448 single nucleotide variant NM_004360.4(CDH1):c.2229C>G (p.Pro743=) 786203083 MedGen:C0027672,SNOMED CT:C0027672 16 68828238 68828238 C G 184449 single nucleotide variant NM_004360.4(CDH1):c.2261A>G (p.Tyr754Cys) 767613429 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862173 68862173 A G 184449 single nucleotide variant NM_004360.4(CDH1):c.2261A>G (p.Tyr754Cys) 767613429 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828270 68828270 A G 184450 single nucleotide variant NM_004360.4(CDH1):c.2272G>A (p.Glu758Lys) 786202785 MedGen:C0027672,SNOMED CT:C0027672 16 68862184 68862184 G A 184450 single nucleotide variant NM_004360.4(CDH1):c.2272G>A (p.Glu758Lys) 786202785 MedGen:C0027672,SNOMED CT:C0027672 16 68828281 68828281 G A 184451 single nucleotide variant NM_004360.4(CDH1):c.2280C>T (p.Gly760=) 768547540 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862192 68862192 C T 184451 single nucleotide variant NM_004360.4(CDH1):c.2280C>T (p.Gly760=) 768547540 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828289 68828289 C T 184452 single nucleotide variant NM_004360.4(CDH1):c.2295+3G>A 786203544 MedGen:C0027672,SNOMED CT:C0027672 16 68862210 68862210 G A 184452 single nucleotide variant NM_004360.4(CDH1):c.2295+3G>A 786203544 MedGen:C0027672,SNOMED CT:C0027672 16 68828307 68828307 G A 184453 single nucleotide variant NM_004360.4(CDH1):c.2302G>A (p.Asp768Asn) 786201999 MedGen:C0027672,SNOMED CT:C0027672 16 68863563 68863563 G A 184453 single nucleotide variant NM_004360.4(CDH1):c.2302G>A (p.Asp768Asn) 786201999 MedGen:C0027672,SNOMED CT:C0027672 16 68829660 68829660 G A 184462 single nucleotide variant NM_004360.4(CDH1):c.2382C>T (p.Val794=) 786203579 MedGen:C0027672,SNOMED CT:C0027672 16 68829740 68829740 C T 184454 single nucleotide variant NM_004360.4(CDH1):c.2322G>A (p.Arg774=) 150734856 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863583 68863583 G A 184454 single nucleotide variant NM_004360.4(CDH1):c.2322G>A (p.Arg774=) 150734856 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829680 68829680 G A 184455 single nucleotide variant NM_004360.4(CDH1):c.2331C>T (p.Asp777=) 114265540 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863592 68863592 C T 184455 single nucleotide variant NM_004360.4(CDH1):c.2331C>T (p.Asp777=) 114265540 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829689 68829689 C T 184456 single nucleotide variant NM_004360.4(CDH1):c.2343A>G (p.Glu781=) 587780119 MedGen:C0027672,SNOMED CT:C0027672 16 68863604 68863604 A G 184456 single nucleotide variant NM_004360.4(CDH1):c.2343A>G (p.Glu781=) 587780119 MedGen:C0027672,SNOMED CT:C0027672 16 68829701 68829701 A G 184457 single nucleotide variant NM_004360.4(CDH1):c.2352T>C (p.Arg784=) 768796172 MedGen:C0027672,SNOMED CT:C0027672 16 68863613 68863613 T C 184457 single nucleotide variant NM_004360.4(CDH1):c.2352T>C (p.Arg784=) 768796172 MedGen:C0027672,SNOMED CT:C0027672 16 68829710 68829710 T C 184458 single nucleotide variant NM_004360.4(CDH1):c.2355C>T (p.Asn785=) 375988871 MedGen:C0027672,SNOMED CT:C0027672 16 68863616 68863616 C T 184458 single nucleotide variant NM_004360.4(CDH1):c.2355C>T (p.Asn785=) 375988871 MedGen:C0027672,SNOMED CT:C0027672 16 68829713 68829713 C T 184459 single nucleotide variant NM_004360.4(CDH1):c.2359G>A (p.Val787Ile) 766270336 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863620 68863620 G A 184459 single nucleotide variant NM_004360.4(CDH1):c.2359G>A (p.Val787Ile) 766270336 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829717 68829717 G A 184460 single nucleotide variant NM_004360.4(CDH1):c.2371C>T (p.Leu791Phe) 786202598 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863632 68863632 C T 184460 single nucleotide variant NM_004360.4(CDH1):c.2371C>T (p.Leu791Phe) 786202598 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829729 68829729 C T 184461 single nucleotide variant NM_004360.4(CDH1):c.2379T>G (p.Ser793Arg) 786203128 MedGen:C0027672,SNOMED CT:C0027672 16 68863640 68863640 T G 184461 single nucleotide variant NM_004360.4(CDH1):c.2379T>G (p.Ser793Arg) 786203128 MedGen:C0027672,SNOMED CT:C0027672 16 68829737 68829737 T G 184462 single nucleotide variant NM_004360.4(CDH1):c.2382C>T (p.Val794=) 786203579 MedGen:C0027672,SNOMED CT:C0027672 16 68863643 68863643 C T 184463 single nucleotide variant NM_004360.4(CDH1):c.2400C>T (p.Arg800=) 786201718 MedGen:C0027672,SNOMED CT:C0027672 16 68863661 68863661 C T 184463 single nucleotide variant NM_004360.4(CDH1):c.2400C>T (p.Arg800=) 786201718 MedGen:C0027672,SNOMED CT:C0027672 16 68829758 68829758 C T 184464 single nucleotide variant NM_004360.4(CDH1):c.2412C>T (p.Pro804=) 202075199 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863673 68863673 C T 184464 single nucleotide variant NM_004360.4(CDH1):c.2412C>T (p.Pro804=) 202075199 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829770 68829770 C T 184465 single nucleotide variant NM_004360.4(CDH1):c.2421T>C (p.Ile807=) 761852331 MedGen:C0027672,SNOMED CT:C0027672 16 68863682 68863682 T C 184465 single nucleotide variant NM_004360.4(CDH1):c.2421T>C (p.Ile807=) 761852331 MedGen:C0027672,SNOMED CT:C0027672 16 68829779 68829779 T C 184466 deletion NM_004360.4(CDH1):c.2430delT (p.Phe810Leufs) 786203752 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863691 68863691 T - 184466 deletion NM_004360.4(CDH1):c.2430delT (p.Phe810Leufs) 786203752 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829788 68829788 T - 184467 single nucleotide variant NM_004360.4(CDH1):c.2451G>A (p.Ala817=) 149450874 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867204 68867204 G A 184467 single nucleotide variant NM_004360.4(CDH1):c.2451G>A (p.Ala817=) 149450874 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833301 68833301 G A 184468 single nucleotide variant NM_004360.4(CDH1):c.2493C>T (p.Leu831=) 779267700 MedGen:C0027672,SNOMED CT:C0027672 16 68867246 68867246 C T 184468 single nucleotide variant NM_004360.4(CDH1):c.2493C>T (p.Leu831=) 779267700 MedGen:C0027672,SNOMED CT:C0027672 16 68833343 68833343 C T 184469 single nucleotide variant NM_004360.4(CDH1):c.2505T>C (p.Tyr835=) 786202613 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867258 68867258 T C 184469 single nucleotide variant NM_004360.4(CDH1):c.2505T>C (p.Tyr835=) 786202613 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833355 68833355 T C 184470 single nucleotide variant NM_004360.4(CDH1):c.2514C>T (p.Ser838=) 770974998 MedGen:C0027672,SNOMED CT:C0027672 16 68867267 68867267 C T 184470 single nucleotide variant NM_004360.4(CDH1):c.2514C>T (p.Ser838=) 770974998 MedGen:C0027672,SNOMED CT:C0027672 16 68833364 68833364 C T 184471 single nucleotide variant NM_004360.4(CDH1):c.2524G>C (p.Ala842Pro) 786203774 MedGen:C0027672,SNOMED CT:C0027672 16 68867277 68867277 G C 184471 single nucleotide variant NM_004360.4(CDH1):c.2524G>C (p.Ala842Pro) 786203774 MedGen:C0027672,SNOMED CT:C0027672 16 68833374 68833374 G C 184472 single nucleotide variant NM_004360.4(CDH1):c.2558C>T (p.Ser853Leu) 569928380 MedGen:C0027672,SNOMED CT:C0027672 16 68867311 68867311 C T 184472 single nucleotide variant NM_004360.4(CDH1):c.2558C>T (p.Ser853Leu) 569928380 MedGen:C0027672,SNOMED CT:C0027672 16 68833408 68833408 C T 184473 single nucleotide variant NM_004360.4(CDH1):c.2571G>A (p.Gln857=) 786201949 MedGen:C0027672,SNOMED CT:C0027672 16 68867324 68867324 G A 184473 single nucleotide variant NM_004360.4(CDH1):c.2571G>A (p.Gln857=) 786201949 MedGen:C0027672,SNOMED CT:C0027672 16 68833421 68833421 G A 184474 single nucleotide variant NM_004360.4(CDH1):c.2577T>C (p.Tyr859=) 765545887 MedGen:C0027672,SNOMED CT:C0027672 16 68867330 68867330 T C 184474 single nucleotide variant NM_004360.4(CDH1):c.2577T>C (p.Tyr859=) 765545887 MedGen:C0027672,SNOMED CT:C0027672 16 68833427 68833427 T C 184475 single nucleotide variant NM_004360.4(CDH1):c.2637C>T (p.Gly879=) 141001592 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867390 68867390 C T 184475 single nucleotide variant NM_004360.4(CDH1):c.2637C>T (p.Gly879=) 141001592 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833487 68833487 C T 184476 single nucleotide variant NM_004360.4(CDH1):c.2638G>A (p.Glu880Lys) 34507583 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867391 68867391 G A 184476 single nucleotide variant NM_004360.4(CDH1):c.2638G>A (p.Glu880Lys) 34507583 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833488 68833488 G A 184477 single nucleotide variant NM_004360.4(CDH1):c.2643C>T (p.Asp881=) 114708971 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867396 68867396 C T 184477 single nucleotide variant NM_004360.4(CDH1):c.2643C>T (p.Asp881=) 114708971 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833493 68833493 C T 186209 duplication NM_004360.4(CDH1):c.164-?_*(1_?)dup -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801670 68833500 na na 186209 duplication NM_004360.4(CDH1):c.164-?_*(1_?)dup -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835573 68867403 na na 186229 single nucleotide variant NM_004360.4(CDH1):c.884C>A (p.Thr295Asn) 786204179 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811735 68811735 C A 186229 single nucleotide variant NM_004360.4(CDH1):c.884C>A (p.Thr295Asn) 786204179 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845638 68845638 C A 186230 single nucleotide variant NM_004360.4(CDH1):c.1679C>T (p.Thr560Met) 746481984 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819393 68819393 C T 186230 single nucleotide variant NM_004360.4(CDH1):c.1679C>T (p.Thr560Met) 746481984 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853296 68853296 C T 186231 single nucleotide variant NM_004360.4(CDH1):c.1738A>G (p.Thr580Ala) 786204155 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822027 68822027 A G 186231 single nucleotide variant NM_004360.4(CDH1):c.1738A>G (p.Thr580Ala) 786204155 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855930 68855930 A G 186232 single nucleotide variant NM_004360.4(CDH1):c.1793G>A (p.Arg598Gln) 780759537 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822082 68822082 G A 186232 single nucleotide variant NM_004360.4(CDH1):c.1793G>A (p.Arg598Gln) 780759537 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855985 68855985 G A 213195 single nucleotide variant NM_004360.4(CDH1):c.61C>T (p.Leu21Phe) 863224729 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738309 68738309 C T 213195 single nucleotide variant NM_004360.4(CDH1):c.61C>T (p.Leu21Phe) 863224729 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772212 68772212 C T 213196 single nucleotide variant NM_004360.4(CDH1):c.163+8C>T 863224396 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772322 68772322 C T 213196 single nucleotide variant NM_004360.4(CDH1):c.163+8C>T 863224396 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738419 68738419 C T 213197 single nucleotide variant NM_004360.4(CDH1):c.510A>G (p.Pro170=) 774962542 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808546 68808546 A G 213197 single nucleotide variant NM_004360.4(CDH1):c.510A>G (p.Pro170=) 774962542 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842449 68842449 A G 213198 single nucleotide variant NM_004360.4(CDH1):c.690C>T (p.Leu230=) 863224397 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810199 68810199 C T 213198 single nucleotide variant NM_004360.4(CDH1):c.690C>T (p.Leu230=) 863224397 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844102 68844102 C T 213199 single nucleotide variant NM_004360.4(CDH1):c.708A>C (p.Ser236=) 863224398 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810217 68810217 A C 213199 single nucleotide variant NM_004360.4(CDH1):c.708A>C (p.Ser236=) 863224398 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844120 68844120 A C 213200 single nucleotide variant NM_004360.4(CDH1):c.866C>T (p.Ala289Val) 780399325 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845620 68845620 C T 213200 single nucleotide variant NM_004360.4(CDH1):c.866C>T (p.Ala289Val) 780399325 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811717 68811717 C T 213202 single nucleotide variant NM_004360.4(CDH1):c.1240A>G (p.Thr414Ala) 863224723 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847318 68847318 A G 213202 single nucleotide variant NM_004360.4(CDH1):c.1240A>G (p.Thr414Ala) 863224723 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813415 68813415 A G 213203 single nucleotide variant NM_004360.4(CDH1):c.1446A>T (p.Glu482Asp) 863224724 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815640 68815640 A T 213203 single nucleotide variant NM_004360.4(CDH1):c.1446A>T (p.Glu482Asp) 863224724 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849543 68849543 A T 213204 single nucleotide variant NM_004360.4(CDH1):c.1565C>T (p.Thr522Ile) 863224725 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68849662 68849662 C T 213204 single nucleotide variant NM_004360.4(CDH1):c.1565C>T (p.Thr522Ile) 863224725 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68815759 68815759 C T 213205 single nucleotide variant NM_004360.4(CDH1):c.1613A>T (p.Asp538Val) 863224726 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853230 68853230 A T 213205 single nucleotide variant NM_004360.4(CDH1):c.1613A>T (p.Asp538Val) 863224726 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819327 68819327 A T 213206 single nucleotide variant NM_004360.4(CDH1):c.1633C>G (p.Arg545Gly) 863224727 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819347 68819347 C G 213206 single nucleotide variant NM_004360.4(CDH1):c.1633C>G (p.Arg545Gly) 863224727 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853250 68853250 C G 213207 single nucleotide variant NM_004360.4(CDH1):c.1711+9G>A 368770384 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853337 68853337 G A 213207 single nucleotide variant NM_004360.4(CDH1):c.1711+9G>A 368770384 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819434 68819434 G A 213208 single nucleotide variant NM_004360.4(CDH1):c.1936+8C>T 776624068 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822233 68822233 C T 213208 single nucleotide variant NM_004360.4(CDH1):c.1936+8C>T 776624068 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856136 68856136 C T 213209 single nucleotide variant NM_004360.4(CDH1):c.2164+3A>G 750651204 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857532 68857532 A G 213209 single nucleotide variant NM_004360.4(CDH1):c.2164+3A>G 750651204 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823629 68823629 A G 213210 single nucleotide variant NM_004360.4(CDH1):c.2164+10G>C 753911528 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857539 68857539 G C 213210 single nucleotide variant NM_004360.4(CDH1):c.2164+10G>C 753911528 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823636 68823636 G C 213211 single nucleotide variant NM_004360.4(CDH1):c.2165-10A>C 753982211 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862067 68862067 A C 213211 single nucleotide variant NM_004360.4(CDH1):c.2165-10A>C 753982211 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828164 68828164 A C 213212 single nucleotide variant NM_004360.4(CDH1):c.2201G>C (p.Arg734Thr) 587781859 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862113 68862113 G C 213212 single nucleotide variant NM_004360.4(CDH1):c.2201G>C (p.Arg734Thr) 587781859 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828210 68828210 G C 213213 single nucleotide variant NM_004360.4(CDH1):c.2497T>C (p.Phe833Leu) 863224728 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833347 68833347 T C 213213 single nucleotide variant NM_004360.4(CDH1):c.2497T>C (p.Phe833Leu) 863224728 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867250 68867250 T C 213214 single nucleotide variant NM_004360.4(CDH1):c.2595G>C (p.Trp865Cys) 778019174 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833445 68833445 G C 213214 single nucleotide variant NM_004360.4(CDH1):c.2595G>C (p.Trp865Cys) 778019174 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867348 68867348 G C 213215 single nucleotide variant NM_004360.4(CDH1):c.*8G>A 201223411 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867410 68867410 G A 213215 single nucleotide variant NM_004360.4(CDH1):c.*8G>A 201223411 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833507 68833507 G A 222441 deletion NM_004360.4(CDH1):c.388-?_*2042+?del -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 222491 single nucleotide variant NM_004360.4(CDH1):c.-71C>G 34033771 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771248 68771248 C G 222491 single nucleotide variant NM_004360.4(CDH1):c.-71C>G 34033771 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737345 68737345 C G 222492 single nucleotide variant NM_004360.4(CDH1):c.-54G>C 5030874 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737362 68737362 G C 222492 single nucleotide variant NM_004360.4(CDH1):c.-54G>C 5030874 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771265 68771265 G C 222493 duplication NM_004360.4(CDH1):c.44_46dupTGC (p.Leu15_Gln16insLeu) 587782476 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737459 68737461 TGC TGCTGC 222493 duplication NM_004360.4(CDH1):c.44_46dupTGC (p.Leu15_Gln16insLeu) 587782476 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771362 68771364 TGC TGCTGC 222494 single nucleotide variant NM_004360.4(CDH1):c.102C>T (p.Ala34=) 864622213 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772253 68772253 C T 222494 single nucleotide variant NM_004360.4(CDH1):c.102C>T (p.Ala34=) 864622213 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738350 68738350 C T 222495 single nucleotide variant NM_004360.4(CDH1):c.200C>A (p.Ala67Asp) 730881660 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801706 68801706 C A 222495 single nucleotide variant NM_004360.4(CDH1):c.200C>A (p.Ala67Asp) 730881660 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835609 68835609 C A 222496 single nucleotide variant NM_004360.4(CDH1):c.208T>A (p.Ser70Thr) 587781862 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835617 68835617 T A 222496 single nucleotide variant NM_004360.4(CDH1):c.208T>A (p.Ser70Thr) 587781862 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801714 68801714 T A 222497 single nucleotide variant NM_004360.4(CDH1):c.232G>A (p.Gly78Ser) 864622477 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801738 68801738 G A 222497 single nucleotide variant NM_004360.4(CDH1):c.232G>A (p.Gly78Ser) 864622477 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835641 68835641 G A 222498 single nucleotide variant NM_004360.4(CDH1):c.251C>T (p.Thr84Ile) 754388534 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835660 68835660 C T 222498 single nucleotide variant NM_004360.4(CDH1):c.251C>T (p.Thr84Ile) 754388534 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801757 68801757 C T 222499 single nucleotide variant NM_004360.4(CDH1):c.286A>G (p.Ile96Val) 749306433 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835695 68835695 A G 222499 single nucleotide variant NM_004360.4(CDH1):c.286A>G (p.Ile96Val) 749306433 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801792 68801792 A G 222500 single nucleotide variant NM_004360.4(CDH1):c.388-8C>T 774601444 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808416 68808416 C T 222500 single nucleotide variant NM_004360.4(CDH1):c.388-8C>T 774601444 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842319 68842319 C T 222501 single nucleotide variant NM_004360.4(CDH1):c.413A>G (p.Glu138Gly) 864622284 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842352 68842352 A G 222501 single nucleotide variant NM_004360.4(CDH1):c.413A>G (p.Glu138Gly) 864622284 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808449 68808449 A G 222502 single nucleotide variant NM_004360.4(CDH1):c.499G>A (p.Glu167Lys) 769076258 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68842438 68842438 G A 222502 single nucleotide variant NM_004360.4(CDH1):c.499G>A (p.Glu167Lys) 769076258 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68808535 68808535 G A 222503 deletion NM_004360.4(CDH1):c.504delA (p.Gly169Alafs) 864622655 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808540 68808540 A - 222503 deletion NM_004360.4(CDH1):c.504delA (p.Gly169Alafs) 864622655 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842443 68842443 A - 222504 single nucleotide variant NM_004360.4(CDH1):c.650C>A (p.Thr217Lys) 778382252 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808811 68808811 C A 222504 single nucleotide variant NM_004360.4(CDH1):c.650C>A (p.Thr217Lys) 778382252 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842714 68842714 C A 222505 single nucleotide variant NM_004360.4(CDH1):c.759C>T (p.Thr253=) 372934565 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810268 68810268 C T 222505 single nucleotide variant NM_004360.4(CDH1):c.759C>T (p.Thr253=) 372934565 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844171 68844171 C T 222506 single nucleotide variant NM_004360.4(CDH1):c.829C>T (p.Pro277Ser) 864622346 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810338 68810338 C T 222506 single nucleotide variant NM_004360.4(CDH1):c.829C>T (p.Pro277Ser) 864622346 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844241 68844241 C T 222507 single nucleotide variant NM_004360.4(CDH1):c.846G>A (p.Met282Ile) 200932258 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845600 68845600 G A 222507 single nucleotide variant NM_004360.4(CDH1):c.846G>A (p.Met282Ile) 200932258 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811697 68811697 G A 222508 single nucleotide variant NM_004360.4(CDH1):c.906C>T (p.Tyr302=) 370197479 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811757 68811757 C T 222508 single nucleotide variant NM_004360.4(CDH1):c.906C>T (p.Tyr302=) 370197479 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845660 68845660 C T 222509 single nucleotide variant NM_004360.4(CDH1):c.1223C>G (p.Ala408Gly) 138135866 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813398 68813398 C G 222509 single nucleotide variant NM_004360.4(CDH1):c.1223C>G (p.Ala408Gly) 138135866 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847301 68847301 C G 222510 single nucleotide variant NM_004360.4(CDH1):c.1303A>G (p.Ile435Val) 864622644 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813478 68813478 A G 222510 single nucleotide variant NM_004360.4(CDH1):c.1303A>G (p.Ile435Val) 864622644 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847381 68847381 A G 222511 single nucleotide variant NM_004360.4(CDH1):c.1319A>G (p.Lys440Arg) 864622165 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813494 68813494 A G 222511 single nucleotide variant NM_004360.4(CDH1):c.1319A>G (p.Lys440Arg) 864622165 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847397 68847397 A G 222512 single nucleotide variant NM_004360.4(CDH1):c.1333G>C (p.Glu445Gln) 864622184 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815527 68815527 G C 222512 single nucleotide variant NM_004360.4(CDH1):c.1333G>C (p.Glu445Gln) 864622184 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849430 68849430 G C 222513 single nucleotide variant NM_004360.4(CDH1):c.1566-6G>A 771635021 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819274 68819274 G A 222513 single nucleotide variant NM_004360.4(CDH1):c.1566-6G>A 771635021 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853177 68853177 G A 222514 single nucleotide variant NM_004360.4(CDH1):c.1585A>G (p.Thr529Ala) 776890776 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819299 68819299 A G 222514 single nucleotide variant NM_004360.4(CDH1):c.1585A>G (p.Thr529Ala) 776890776 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853202 68853202 A G 222515 single nucleotide variant NM_004360.4(CDH1):c.1615A>G (p.Thr539Ala) 864622070 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819329 68819329 A G 222515 single nucleotide variant NM_004360.4(CDH1):c.1615A>G (p.Thr539Ala) 864622070 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853232 68853232 A G 222516 single nucleotide variant NM_004360.4(CDH1):c.1689C>A (p.Ala563=) 587780786 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853306 68853306 C A 222516 single nucleotide variant NM_004360.4(CDH1):c.1689C>A (p.Ala563=) 587780786 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819403 68819403 C A 222517 single nucleotide variant NM_004360.4(CDH1):c.1711+9G>C 368770384 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819434 68819434 G C 222517 single nucleotide variant NM_004360.4(CDH1):c.1711+9G>C 368770384 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853337 68853337 G C 222518 single nucleotide variant NM_004360.4(CDH1):c.1757C>T (p.Ser586Phe) 864622599 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822046 68822046 C T 222518 single nucleotide variant NM_004360.4(CDH1):c.1757C>T (p.Ser586Phe) 864622599 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855949 68855949 C T 222519 single nucleotide variant NM_004360.4(CDH1):c.1770C>A (p.Asp590Glu) 864622319 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822059 68822059 C A 222519 single nucleotide variant NM_004360.4(CDH1):c.1770C>A (p.Asp590Glu) 864622319 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855962 68855962 C A 222520 single nucleotide variant NM_004360.4(CDH1):c.1808G>C (p.Cys603Ser) 864622612 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822097 68822097 G C 222520 single nucleotide variant NM_004360.4(CDH1):c.1808G>C (p.Cys603Ser) 864622612 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856000 68856000 G C 222521 single nucleotide variant NM_004360.4(CDH1):c.1936+4G>A 864622365 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822229 68822229 G A 222521 single nucleotide variant NM_004360.4(CDH1):c.1936+4G>A 864622365 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856132 68856132 G A 222522 single nucleotide variant NM_004360.4(CDH1):c.1993A>G (p.Ile665Val) 864622503 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823455 68823455 A G 222522 single nucleotide variant NM_004360.4(CDH1):c.1993A>G (p.Ile665Val) 864622503 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857358 68857358 A G 222523 inversion NM_004360.4(CDH1):c.2076_2077invTG (p.Gly693Argfs) -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823538 68823539 TG CA 222523 inversion NM_004360.4(CDH1):c.2076_2077invTG (p.Gly693Argfs) -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857441 68857442 TG CA 222524 single nucleotide variant NM_004360.4(CDH1):c.2194C>T (p.Arg732Trp) 864622198 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828203 68828203 C T 222524 single nucleotide variant NM_004360.4(CDH1):c.2194C>T (p.Arg732Trp) 864622198 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862106 68862106 C T 222525 single nucleotide variant NM_004360.4(CDH1):c.2351G>A (p.Arg784His) 763203357 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863612 68863612 G A 222525 single nucleotide variant NM_004360.4(CDH1):c.2351G>A (p.Arg784His) 763203357 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829709 68829709 G A 222526 single nucleotide variant NM_004360.4(CDH1):c.2440-10T>C 864622564 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867183 68867183 T C 222526 single nucleotide variant NM_004360.4(CDH1):c.2440-10T>C 864622564 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833280 68833280 T C 222527 single nucleotide variant NM_004360.4(CDH1):c.2486C>A (p.Ser829Tyr) 864622310 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833336 68833336 C A 222527 single nucleotide variant NM_004360.4(CDH1):c.2486C>A (p.Ser829Tyr) 864622310 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867239 68867239 C A 222528 single nucleotide variant NM_004360.4(CDH1):c.2541C>T (p.Ser847=) 147968870 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833391 68833391 C T 222528 single nucleotide variant NM_004360.4(CDH1):c.2541C>T (p.Ser847=) 147968870 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867294 68867294 C T 222529 single nucleotide variant NM_004360.4(CDH1):c.2590G>C (p.Glu864Gln) 142927667 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833440 68833440 G C 222529 single nucleotide variant NM_004360.4(CDH1):c.2590G>C (p.Glu864Gln) 142927667 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867343 68867343 G C 222530 single nucleotide variant NM_004360.4(CDH1):c.2602C>T (p.Arg868Cys) 864622630 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867355 68867355 C T 222530 single nucleotide variant NM_004360.4(CDH1):c.2602C>T (p.Arg868Cys) 864622630 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833452 68833452 C T 222531 single nucleotide variant NM_004360.4(CDH1):c.2640G>A (p.Glu880=) 864622218 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833490 68833490 G A 222531 single nucleotide variant NM_004360.4(CDH1):c.2640G>A (p.Glu880=) 864622218 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867393 68867393 G A 225383 single nucleotide variant NM_004360.4(CDH1):c.2295+166C>T 143044978 MedGen:C0027672,SNOMED CT:C0027672 16 68828470 68828470 C T 225383 single nucleotide variant NM_004360.4(CDH1):c.2295+166C>T 143044978 MedGen:C0027672,SNOMED CT:C0027672 16 68862373 68862373 C T 225384 single nucleotide variant NM_004360.4(CDH1):c.388-1619G>A 187126626 MedGen:C0027672,SNOMED CT:C0027672 16 68806805 68806805 G A 225384 single nucleotide variant NM_004360.4(CDH1):c.388-1619G>A 187126626 MedGen:C0027672,SNOMED CT:C0027672 16 68840708 68840708 G A 225385 single nucleotide variant NM_004360.4(CDH1):c.388-3020G>T 559645609 MedGen:C0027672,SNOMED CT:C0027672 16 68805404 68805404 G T 225385 single nucleotide variant NM_004360.4(CDH1):c.388-3020G>T 559645609 MedGen:C0027672,SNOMED CT:C0027672 16 68839307 68839307 G T 225386 single nucleotide variant NM_004360.4(CDH1):c.1937-423G>A 144719031 MedGen:C0027672,SNOMED CT:C0027672 16 68822976 68822976 G A 225386 single nucleotide variant NM_004360.4(CDH1):c.1937-423G>A 144719031 MedGen:C0027672,SNOMED CT:C0027672 16 68856879 68856879 G A 225387 single nucleotide variant NM_004360.4(CDH1):c.48+105A>G 62057828 MedGen:C0027672,SNOMED CT:C0027672 16 68737568 68737568 A G 225387 single nucleotide variant NM_004360.4(CDH1):c.48+105A>G 62057828 MedGen:C0027672,SNOMED CT:C0027672 16 68771471 68771471 A G 225388 single nucleotide variant NM_004360.4(CDH1):c.1137+86T>G 35160345 MedGen:C0027672,SNOMED CT:C0027672 16 68812349 68812349 T G 225388 single nucleotide variant NM_004360.4(CDH1):c.1137+86T>G 35160345 MedGen:C0027672,SNOMED CT:C0027672 16 68846252 68846252 T G 225389 single nucleotide variant NM_004360.4(CDH1):c.48+203C>T 112622910 MedGen:C0027672,SNOMED CT:C0027672 16 68737666 68737666 C T 225389 single nucleotide variant NM_004360.4(CDH1):c.48+203C>T 112622910 MedGen:C0027672,SNOMED CT:C0027672 16 68771569 68771569 C T 226361 deletion NM_004360.4(CDH1):c.1064delT (p.Leu355Terfs) 863224505 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846093 68846093 T - 226361 deletion NM_004360.4(CDH1):c.1064delT (p.Leu355Terfs) 863224505 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812190 68812190 T - 226362 deletion NM_004360.4(CDH1):c.1505delG (p.Gly502Alafs) 869312765 MedGen:C0027672,SNOMED CT:C0027672 16 68849602 68849602 G - 226362 deletion NM_004360.4(CDH1):c.1505delG (p.Gly502Alafs) 869312765 MedGen:C0027672,SNOMED CT:C0027672 16 68815699 68815699 G - 226363 single nucleotide variant NM_004360.4(CDH1):c.1937-383A>G 869312792 MedGen:C0027672,SNOMED CT:C0027672 16 68856919 68856919 A G 226363 single nucleotide variant NM_004360.4(CDH1):c.1937-383A>G 869312792 MedGen:C0027672,SNOMED CT:C0027672 16 68823016 68823016 A G 226608 deletion NM_004360.4(CDH1):c.1220delC 886037822 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813395 68813395 C - 226608 deletion NM_004360.4(CDH1):c.1220delC 886037822 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847298 68847298 C - 231958 single nucleotide variant NM_004360.4(CDH1):c.-50C>G 876660969 MedGen:CN169374 16 68771269 68771269 C G 231958 single nucleotide variant NM_004360.4(CDH1):c.-50C>G 876660969 MedGen:CN169374 16 68737366 68737366 C G 231959 single nucleotide variant NM_004360.4(CDH1):c.61C>A (p.Leu21Ile) 863224729 MedGen:CN169374 16 68772212 68772212 C A 231959 single nucleotide variant NM_004360.4(CDH1):c.61C>A (p.Leu21Ile) 863224729 MedGen:CN169374 16 68738309 68738309 C A 231960 single nucleotide variant NM_004360.4(CDH1):c.-36C>T 876661191 MedGen:CN169374 16 68771283 68771283 C T 231960 single nucleotide variant NM_004360.4(CDH1):c.-36C>T 876661191 MedGen:CN169374 16 68737380 68737380 C T 231961 single nucleotide variant NM_004360.4(CDH1):c.118A>T (p.Thr40Ser) 876661278 MedGen:CN169374 16 68738366 68738366 A T 231961 single nucleotide variant NM_004360.4(CDH1):c.118A>T (p.Thr40Ser) 876661278 MedGen:CN169374 16 68772269 68772269 A T 231962 single nucleotide variant NM_004360.4(CDH1):c.337A>G (p.Lys113Glu) 876661106 MedGen:CN169374 16 68835746 68835746 A G 231962 single nucleotide variant NM_004360.4(CDH1):c.337A>G (p.Lys113Glu) 876661106 MedGen:CN169374 16 68801843 68801843 A G 231963 single nucleotide variant NM_004360.4(CDH1):c.337A>T (p.Lys113Ter) 876661106 MedGen:CN221809 16 68801843 68801843 A T 231963 single nucleotide variant NM_004360.4(CDH1):c.337A>T (p.Lys113Ter) 876661106 MedGen:CN221809 16 68835746 68835746 A T 231964 single nucleotide variant NM_004360.4(CDH1):c.427C>T (p.Pro143Ser) 876661226 MedGen:CN169374 16 68842366 68842366 C T 231964 single nucleotide variant NM_004360.4(CDH1):c.427C>T (p.Pro143Ser) 876661226 MedGen:CN169374 16 68808463 68808463 C T 231965 single nucleotide variant NM_004360.4(CDH1):c.468G>A (p.Trp156Ter) 876661107 MedGen:CN221809 16 68842407 68842407 G A 231965 single nucleotide variant NM_004360.4(CDH1):c.468G>A (p.Trp156Ter) 876661107 MedGen:CN221809 16 68808504 68808504 G A 231966 single nucleotide variant NM_004360.4(CDH1):c.562G>A (p.Val188Ile) 775484115 MedGen:CN169374 16 68842626 68842626 G A 231966 single nucleotide variant NM_004360.4(CDH1):c.562G>A (p.Val188Ile) 775484115 MedGen:CN169374 16 68808723 68808723 G A 231967 single nucleotide variant NM_004360.4(CDH1):c.610G>A (p.Val204Ile) 876661028 MedGen:CN169374 16 68808771 68808771 G A 231967 single nucleotide variant NM_004360.4(CDH1):c.610G>A (p.Val204Ile) 876661028 MedGen:CN169374 16 68842674 68842674 G A 231968 single nucleotide variant NM_004360.4(CDH1):c.907A>G (p.Thr303Ala) 876660744 MedGen:CN169374 16 68811758 68811758 A G 231968 single nucleotide variant NM_004360.4(CDH1):c.907A>G (p.Thr303Ala) 876660744 MedGen:CN169374 16 68845661 68845661 A G 231969 single nucleotide variant NM_004360.4(CDH1):c.1057G>A (p.Glu353Lys) 876661091 MedGen:CN169374 16 68812183 68812183 G A 231969 single nucleotide variant NM_004360.4(CDH1):c.1057G>A (p.Glu353Lys) 876661091 MedGen:CN169374 16 68846086 68846086 G A 231970 single nucleotide variant NM_004360.4(CDH1):c.965A>G (p.Asn322Ser) 876661274 MedGen:CN169374 16 68845719 68845719 A G 231970 single nucleotide variant NM_004360.4(CDH1):c.965A>G (p.Asn322Ser) 876661274 MedGen:CN169374 16 68811816 68811816 A G 231971 single nucleotide variant NM_004360.4(CDH1):c.1277C>T (p.Thr426Ile) 876658901 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68847355 68847355 C T 231971 single nucleotide variant NM_004360.4(CDH1):c.1277C>T (p.Thr426Ile) 876658901 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68813452 68813452 C T 231972 single nucleotide variant NM_004360.4(CDH1):c.1336G>A (p.Ala446Thr) 876661078 MedGen:CN169374 16 68849433 68849433 G A 231972 single nucleotide variant NM_004360.4(CDH1):c.1336G>A (p.Ala446Thr) 876661078 MedGen:CN169374 16 68815530 68815530 G A 231973 single nucleotide variant NM_004360.4(CDH1):c.1493A>C (p.Asp498Ala) 876661065 MedGen:CN169374 16 68815687 68815687 A C 231973 single nucleotide variant NM_004360.4(CDH1):c.1493A>C (p.Asp498Ala) 876661065 MedGen:CN169374 16 68849590 68849590 A C 231974 single nucleotide variant NM_004360.4(CDH1):c.1666G>C (p.Val556Leu) 876660399 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68853283 68853283 G C 231986 single nucleotide variant NM_004360.4(CDH1):c.2590G>A (p.Glu864Lys) 142927667 MedGen:CN169374 16 68833440 68833440 G A 231974 single nucleotide variant NM_004360.4(CDH1):c.1666G>C (p.Val556Leu) 876660399 MedGen:C0027672,SNOMED CT:C0027672;MedGen:CN169374 16 68819380 68819380 G C 231975 single nucleotide variant NM_004360.4(CDH1):c.1712-2A>C 552325719 MedGen:CN169374 16 68821999 68821999 A C 231975 single nucleotide variant NM_004360.4(CDH1):c.1712-2A>C 552325719 MedGen:CN169374 16 68855902 68855902 A C 231976 single nucleotide variant NM_004360.4(CDH1):c.1679C>G (p.Thr560Arg) 746481984 MedGen:CN169374 16 68853296 68853296 C G 231976 single nucleotide variant NM_004360.4(CDH1):c.1679C>G (p.Thr560Arg) 746481984 MedGen:CN169374 16 68819393 68819393 C G 231977 duplication NM_004360.4(CDH1):c.1779dupC (p.Ile594Hisfs) 876661118 MedGen:CN221809 16 68855971 68855971 C CC 231977 duplication NM_004360.4(CDH1):c.1779dupC (p.Ile594Hisfs) 876661118 MedGen:CN221809 16 68822068 68822068 C CC 231978 deletion NM_004360.4(CDH1):c.2076_2077delTG (p.Gly693Argfs) 876661133 MedGen:CN169374 16 68823538 68823539 TG - 231978 deletion NM_004360.4(CDH1):c.2076_2077delTG (p.Gly693Argfs) 876661133 MedGen:CN169374 16 68857441 68857442 TG - 231979 single nucleotide variant NM_004360.4(CDH1):c.2164+2T>C 876661120 MedGen:CN221809 16 68857531 68857531 T C 231979 single nucleotide variant NM_004360.4(CDH1):c.2164+2T>C 876661120 MedGen:CN221809 16 68823628 68823628 T C 231980 single nucleotide variant NM_004360.4(CDH1):c.2152C>A (p.Leu718Ile) 876658591 MedGen:CN169374 16 68823614 68823614 C A 231980 single nucleotide variant NM_004360.4(CDH1):c.2152C>A (p.Leu718Ile) 876658591 MedGen:CN169374 16 68857517 68857517 C A 231981 deletion NM_004360.4(CDH1):c.2273_2275delAAG (p.Glu758del) 876661070 MedGen:CN169374 16 68828282 68828284 AAG - 231981 deletion NM_004360.4(CDH1):c.2273_2275delAAG (p.Glu758del) 876661070 MedGen:CN169374 16 68862185 68862187 AAG - 231982 single nucleotide variant NM_004360.4(CDH1):c.2374A>G (p.Met792Val) 759380419 MedGen:CN169374 16 68863635 68863635 A G 231982 single nucleotide variant NM_004360.4(CDH1):c.2374A>G (p.Met792Val) 759380419 MedGen:CN169374 16 68829732 68829732 A G 231983 insertion NM_004360.4(CDH1):c.2547_2548insA (p.Ser850Ilefs) 876661286 MedGen:CN169374 16 68867300 68867301 - A 231983 insertion NM_004360.4(CDH1):c.2547_2548insA (p.Ser850Ilefs) 876661286 MedGen:CN169374 16 68833397 68833398 - A 231984 single nucleotide variant NM_004360.4(CDH1):c.2416G>A (p.Glu806Lys) 376922615 MedGen:CN169374 16 68829774 68829774 G A 231984 single nucleotide variant NM_004360.4(CDH1):c.2416G>A (p.Glu806Lys) 376922615 MedGen:CN169374 16 68863677 68863677 G A 231985 single nucleotide variant NM_004360.4(CDH1):c.2589C>A (p.Asn863Lys) 115817750 MedGen:CN169374 16 68867342 68867342 C A 231985 single nucleotide variant NM_004360.4(CDH1):c.2589C>A (p.Asn863Lys) 115817750 MedGen:CN169374 16 68833439 68833439 C A 231986 single nucleotide variant NM_004360.4(CDH1):c.2590G>A (p.Glu864Lys) 142927667 MedGen:CN169374 16 68867343 68867343 G A 235349 single nucleotide variant NM_004360.4(CDH1):c.61C>G (p.Leu21Val) 863224729 MedGen:C0027672,SNOMED CT:C0027672 16 68772212 68772212 C G 235349 single nucleotide variant NM_004360.4(CDH1):c.61C>G (p.Leu21Val) 863224729 MedGen:C0027672,SNOMED CT:C0027672 16 68738309 68738309 C G 235350 single nucleotide variant NM_004360.4(CDH1):c.66C>T (p.Cys22=) 865838543 MedGen:C0027672,SNOMED CT:C0027672 16 68772217 68772217 C T 235350 single nucleotide variant NM_004360.4(CDH1):c.66C>T (p.Cys22=) 865838543 MedGen:C0027672,SNOMED CT:C0027672 16 68738314 68738314 C T 235351 single nucleotide variant NM_004360.4(CDH1):c.76G>C (p.Glu26Gln) 786201058 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772227 68772227 G C 235351 single nucleotide variant NM_004360.4(CDH1):c.76G>C (p.Glu26Gln) 786201058 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738324 68738324 G C 235352 single nucleotide variant NM_004360.4(CDH1):c.89C>G (p.Pro30Arg) 876660408 MedGen:C0027672,SNOMED CT:C0027672 16 68772240 68772240 C G 235352 single nucleotide variant NM_004360.4(CDH1):c.89C>G (p.Pro30Arg) 876660408 MedGen:C0027672,SNOMED CT:C0027672 16 68738337 68738337 C G 235353 single nucleotide variant NM_004360.4(CDH1):c.105G>A (p.Glu35=) 876660131 MedGen:C0027672,SNOMED CT:C0027672 16 68772256 68772256 G A 235353 single nucleotide variant NM_004360.4(CDH1):c.105G>A (p.Glu35=) 876660131 MedGen:C0027672,SNOMED CT:C0027672 16 68738353 68738353 G A 235354 single nucleotide variant NM_004360.4(CDH1):c.111C>T (p.Tyr37=) 876660002 MedGen:C0027672,SNOMED CT:C0027672 16 68772262 68772262 C T 235354 single nucleotide variant NM_004360.4(CDH1):c.111C>T (p.Tyr37=) 876660002 MedGen:C0027672,SNOMED CT:C0027672 16 68738359 68738359 C T 235355 single nucleotide variant NM_004360.4(CDH1):c.113C>A (p.Thr38Lys) 587778171 MedGen:C0027672,SNOMED CT:C0027672 16 68772264 68772264 C A 235355 single nucleotide variant NM_004360.4(CDH1):c.113C>A (p.Thr38Lys) 587778171 MedGen:C0027672,SNOMED CT:C0027672 16 68738361 68738361 C A 235356 indel NM_004360.4(CDH1):c.124_126delCCCinsT (p.Pro42Serfs) 876658865 MedGen:C0027672,SNOMED CT:C0027672 16 68772275 68772277 CCC T 235356 indel NM_004360.4(CDH1):c.124_126delCCCinsT (p.Pro42Serfs) 876658865 MedGen:C0027672,SNOMED CT:C0027672 16 68738372 68738374 CCC T 235357 single nucleotide variant NM_004360.4(CDH1):c.125C>T (p.Pro42Leu) 876659333 MedGen:C0027672,SNOMED CT:C0027672 16 68772276 68772276 C T 235357 single nucleotide variant NM_004360.4(CDH1):c.125C>T (p.Pro42Leu) 876659333 MedGen:C0027672,SNOMED CT:C0027672 16 68738373 68738373 C T 235358 single nucleotide variant NM_004360.4(CDH1):c.148C>A (p.Arg50Ser) 876659739 MedGen:C0027672,SNOMED CT:C0027672 16 68772299 68772299 C A 235358 single nucleotide variant NM_004360.4(CDH1):c.148C>A (p.Arg50Ser) 876659739 MedGen:C0027672,SNOMED CT:C0027672 16 68738396 68738396 C A 235359 single nucleotide variant NM_004360.4(CDH1):c.158G>C (p.Gly53Ala) 876659692 MedGen:C0027672,SNOMED CT:C0027672 16 68772309 68772309 G C 235359 single nucleotide variant NM_004360.4(CDH1):c.158G>C (p.Gly53Ala) 876659692 MedGen:C0027672,SNOMED CT:C0027672 16 68738406 68738406 G C 235360 single nucleotide variant NM_004360.4(CDH1):c.161G>A (p.Arg54Lys) 876658680 MedGen:C0027672,SNOMED CT:C0027672 16 68738409 68738409 G A 235360 single nucleotide variant NM_004360.4(CDH1):c.161G>A (p.Arg54Lys) 876658680 MedGen:C0027672,SNOMED CT:C0027672 16 68772312 68772312 G A 235361 single nucleotide variant NM_004360.4(CDH1):c.220C>G (p.Arg74Gly) 876658932 MedGen:C0027672,SNOMED CT:C0027672 16 68835629 68835629 C G 235361 single nucleotide variant NM_004360.4(CDH1):c.220C>G (p.Arg74Gly) 876658932 MedGen:C0027672,SNOMED CT:C0027672 16 68801726 68801726 C G 235362 single nucleotide variant NM_004360.4(CDH1):c.236C>G (p.Thr79Arg) 876658359 MedGen:C0027672,SNOMED CT:C0027672 16 68835645 68835645 C G 235362 single nucleotide variant NM_004360.4(CDH1):c.236C>G (p.Thr79Arg) 876658359 MedGen:C0027672,SNOMED CT:C0027672 16 68801742 68801742 C G 235363 single nucleotide variant NM_004360.4(CDH1):c.276T>C (p.His92=) 770967343 MedGen:C0027672,SNOMED CT:C0027672 16 68835685 68835685 T C 235363 single nucleotide variant NM_004360.4(CDH1):c.276T>C (p.His92=) 770967343 MedGen:C0027672,SNOMED CT:C0027672 16 68801782 68801782 T C 235364 single nucleotide variant NM_004360.4(CDH1):c.297G>A (p.Leu99=) 876660223 MedGen:C0027672,SNOMED CT:C0027672 16 68835706 68835706 G A 235364 single nucleotide variant NM_004360.4(CDH1):c.297G>A (p.Leu99=) 876660223 MedGen:C0027672,SNOMED CT:C0027672 16 68801803 68801803 G A 235365 single nucleotide variant NM_004360.4(CDH1):c.336C>A (p.Thr112=) 876660703 MedGen:C0027672,SNOMED CT:C0027672 16 68835745 68835745 C A 235365 single nucleotide variant NM_004360.4(CDH1):c.336C>A (p.Thr112=) 876660703 MedGen:C0027672,SNOMED CT:C0027672 16 68801842 68801842 C A 235366 single nucleotide variant NM_004360.4(CDH1):c.358G>A (p.Gly120Arg) 751789834 MedGen:C0027672,SNOMED CT:C0027672 16 68835767 68835767 G A 235366 single nucleotide variant NM_004360.4(CDH1):c.358G>A (p.Gly120Arg) 751789834 MedGen:C0027672,SNOMED CT:C0027672 16 68801864 68801864 G A 235367 single nucleotide variant NM_004360.4(CDH1):c.366C>G (p.His122Gln) 140123339 MedGen:C0027672,SNOMED CT:C0027672 16 68835775 68835775 C G 235367 single nucleotide variant NM_004360.4(CDH1):c.366C>G (p.His122Gln) 140123339 MedGen:C0027672,SNOMED CT:C0027672 16 68801872 68801872 C G 235368 single nucleotide variant NM_004360.4(CDH1):c.409G>C (p.Ala137Pro) 876658797 MedGen:C0027672,SNOMED CT:C0027672 16 68842348 68842348 G C 235368 single nucleotide variant NM_004360.4(CDH1):c.409G>C (p.Ala137Pro) 876658797 MedGen:C0027672,SNOMED CT:C0027672 16 68808445 68808445 G C 235369 single nucleotide variant NM_004360.4(CDH1):c.445C>A (p.Leu149Ile) 876658781 MedGen:C0027672,SNOMED CT:C0027672 16 68842384 68842384 C A 235369 single nucleotide variant NM_004360.4(CDH1):c.445C>A (p.Leu149Ile) 876658781 MedGen:C0027672,SNOMED CT:C0027672 16 68808481 68808481 C A 235370 single nucleotide variant NM_004360.4(CDH1):c.480C>T (p.Pro160=) 769371658 MedGen:C0027672,SNOMED CT:C0027672 16 68808516 68808516 C T 235370 single nucleotide variant NM_004360.4(CDH1):c.480C>T (p.Pro160=) 769371658 MedGen:C0027672,SNOMED CT:C0027672 16 68842419 68842419 C T 235371 single nucleotide variant NM_004360.4(CDH1):c.531G>A (p.Gln177=) 876659103 MedGen:C0027672,SNOMED CT:C0027672 16 68842470 68842470 G A 235371 single nucleotide variant NM_004360.4(CDH1):c.531G>A (p.Gln177=) 876659103 MedGen:C0027672,SNOMED CT:C0027672 16 68808567 68808567 G A 235372 single nucleotide variant NM_004360.4(CDH1):c.531+3A>G 766563354 MedGen:C0027672,SNOMED CT:C0027672 16 68842473 68842473 A G 235372 single nucleotide variant NM_004360.4(CDH1):c.531+3A>G 766563354 MedGen:C0027672,SNOMED CT:C0027672 16 68808570 68808570 A G 235373 single nucleotide variant NM_004360.4(CDH1):c.558C>T (p.Gly186=) 876660863 MedGen:C0027672,SNOMED CT:C0027672 16 68808719 68808719 C T 235373 single nucleotide variant NM_004360.4(CDH1):c.558C>T (p.Gly186=) 876660863 MedGen:C0027672,SNOMED CT:C0027672 16 68842622 68842622 C T 235374 single nucleotide variant NM_004360.4(CDH1):c.595A>T (p.Thr199Ser) 876658424 MedGen:C0027672,SNOMED CT:C0027672 16 68842659 68842659 A T 235374 single nucleotide variant NM_004360.4(CDH1):c.595A>T (p.Thr199Ser) 876658424 MedGen:C0027672,SNOMED CT:C0027672 16 68808756 68808756 A T 235375 single nucleotide variant NM_004360.4(CDH1):c.604G>C (p.Val202Leu) 546716073 MedGen:C0027672,SNOMED CT:C0027672 16 68842668 68842668 G C 235375 single nucleotide variant NM_004360.4(CDH1):c.604G>C (p.Val202Leu) 546716073 MedGen:C0027672,SNOMED CT:C0027672 16 68808765 68808765 G C 235376 single nucleotide variant NM_004360.4(CDH1):c.650C>T (p.Thr217Ile) 778382252 MedGen:C0027672,SNOMED CT:C0027672 16 68842714 68842714 C T 235376 single nucleotide variant NM_004360.4(CDH1):c.650C>T (p.Thr217Ile) 778382252 MedGen:C0027672,SNOMED CT:C0027672 16 68808811 68808811 C T 235377 single nucleotide variant NM_004360.4(CDH1):c.660G>A (p.Leu220=) 747484647 MedGen:C0027672,SNOMED CT:C0027672 16 68842724 68842724 G A 235377 single nucleotide variant NM_004360.4(CDH1):c.660G>A (p.Leu220=) 747484647 MedGen:C0027672,SNOMED CT:C0027672 16 68808821 68808821 G A 235378 single nucleotide variant NM_004360.4(CDH1):c.688-4T>C 781633588 MedGen:C0027672,SNOMED CT:C0027672 16 68844096 68844096 T C 235378 single nucleotide variant NM_004360.4(CDH1):c.688-4T>C 781633588 MedGen:C0027672,SNOMED CT:C0027672 16 68810193 68810193 T C 235379 single nucleotide variant NM_004360.4(CDH1):c.699C>G (p.His233Gln) 115494727 MedGen:C0027672,SNOMED CT:C0027672 16 68810208 68810208 C G 235379 single nucleotide variant NM_004360.4(CDH1):c.699C>G (p.His233Gln) 115494727 MedGen:C0027672,SNOMED CT:C0027672 16 68844111 68844111 C G 235380 single nucleotide variant NM_004360.4(CDH1):c.786C>T (p.Phe262=) 876658994 MedGen:C0027672,SNOMED CT:C0027672 16 68844198 68844198 C T 235380 single nucleotide variant NM_004360.4(CDH1):c.786C>T (p.Phe262=) 876658994 MedGen:C0027672,SNOMED CT:C0027672 16 68810295 68810295 C T 235381 single nucleotide variant NM_004360.4(CDH1):c.793G>C (p.Glu265Gln) 876659503 MedGen:C0027672,SNOMED CT:C0027672 16 68844205 68844205 G C 235381 single nucleotide variant NM_004360.4(CDH1):c.793G>C (p.Glu265Gln) 876659503 MedGen:C0027672,SNOMED CT:C0027672 16 68810302 68810302 G C 235382 single nucleotide variant NM_004360.4(CDH1):c.821G>A (p.Gly274Asp) 876660861 MedGen:C0027672,SNOMED CT:C0027672 16 68844233 68844233 G A 235382 single nucleotide variant NM_004360.4(CDH1):c.821G>A (p.Gly274Asp) 876660861 MedGen:C0027672,SNOMED CT:C0027672 16 68810330 68810330 G A 235383 single nucleotide variant NM_004360.4(CDH1):c.826C>G (p.Leu276Val) 750911401 MedGen:C0027672,SNOMED CT:C0027672 16 68844238 68844238 C G 235383 single nucleotide variant NM_004360.4(CDH1):c.826C>G (p.Leu276Val) 750911401 MedGen:C0027672,SNOMED CT:C0027672 16 68810335 68810335 C G 235384 single nucleotide variant NM_004360.4(CDH1):c.858C>A (p.Ala286=) 876660354 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845612 68845612 C A 235384 single nucleotide variant NM_004360.4(CDH1):c.858C>A (p.Ala286=) 876660354 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811709 68811709 C A 235385 single nucleotide variant NM_004360.4(CDH1):c.871G>A (p.Asp291Asn) 876660645 MedGen:C0027672,SNOMED CT:C0027672 16 68845625 68845625 G A 235385 single nucleotide variant NM_004360.4(CDH1):c.871G>A (p.Asp291Asn) 876660645 MedGen:C0027672,SNOMED CT:C0027672 16 68811722 68811722 G A 235386 single nucleotide variant NM_004360.4(CDH1):c.878T>C (p.Val293Ala) 876659186 MedGen:C0027672,SNOMED CT:C0027672 16 68845632 68845632 T C 235386 single nucleotide variant NM_004360.4(CDH1):c.878T>C (p.Val293Ala) 876659186 MedGen:C0027672,SNOMED CT:C0027672 16 68811729 68811729 T C 235387 single nucleotide variant NM_004360.4(CDH1):c.907A>T (p.Thr303Ser) 876660744 MedGen:C0027672,SNOMED CT:C0027672 16 68845661 68845661 A T 235387 single nucleotide variant NM_004360.4(CDH1):c.907A>T (p.Thr303Ser) 876660744 MedGen:C0027672,SNOMED CT:C0027672 16 68811758 68811758 A T 235388 single nucleotide variant NM_004360.4(CDH1):c.921A>G (p.Gln307=) 876660221 MedGen:C0027672,SNOMED CT:C0027672 16 68845675 68845675 A G 235388 single nucleotide variant NM_004360.4(CDH1):c.921A>G (p.Gln307=) 876660221 MedGen:C0027672,SNOMED CT:C0027672 16 68811772 68811772 A G 235389 single nucleotide variant NM_004360.4(CDH1):c.996G>A (p.Gly332=) 876658414 MedGen:C0027672,SNOMED CT:C0027672 16 68845750 68845750 G A 235389 single nucleotide variant NM_004360.4(CDH1):c.996G>A (p.Gly332=) 876658414 MedGen:C0027672,SNOMED CT:C0027672 16 68811847 68811847 G A 235390 single nucleotide variant NM_004360.4(CDH1):c.1008G>A (p.Glu336=) 267606712 MedGen:C0027672,SNOMED CT:C0027672 16 68845762 68845762 G A 235390 single nucleotide variant NM_004360.4(CDH1):c.1008G>A (p.Glu336=) 267606712 MedGen:C0027672,SNOMED CT:C0027672 16 68811859 68811859 G A 235391 single nucleotide variant NM_004360.4(CDH1):c.1056T>A (p.Gly352=) 876658922 MedGen:C0027672,SNOMED CT:C0027672 16 68846085 68846085 T A 235391 single nucleotide variant NM_004360.4(CDH1):c.1056T>A (p.Gly352=) 876658922 MedGen:C0027672,SNOMED CT:C0027672 16 68812182 68812182 T A 235392 single nucleotide variant NM_004360.4(CDH1):c.1090A>T (p.Thr364Ser) 778868539 MedGen:C0027672,SNOMED CT:C0027672 16 68846119 68846119 A T 235392 single nucleotide variant NM_004360.4(CDH1):c.1090A>T (p.Thr364Ser) 778868539 MedGen:C0027672,SNOMED CT:C0027672 16 68812216 68812216 A T 235393 single nucleotide variant NM_004360.4(CDH1):c.1091C>T (p.Thr364Ile) 876658376 MedGen:C0027672,SNOMED CT:C0027672 16 68846120 68846120 C T 235393 single nucleotide variant NM_004360.4(CDH1):c.1091C>T (p.Thr364Ile) 876658376 MedGen:C0027672,SNOMED CT:C0027672 16 68812217 68812217 C T 235394 single nucleotide variant NM_004360.4(CDH1):c.1097C>G (p.Thr366Ser) 876660260 MedGen:C0027672,SNOMED CT:C0027672 16 68846126 68846126 C G 235394 single nucleotide variant NM_004360.4(CDH1):c.1097C>G (p.Thr366Ser) 876660260 MedGen:C0027672,SNOMED CT:C0027672 16 68812223 68812223 C G 235395 single nucleotide variant NM_004360.4(CDH1):c.1137+1G>A 876660771 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846167 68846167 G A 235395 single nucleotide variant NM_004360.4(CDH1):c.1137+1G>A 876660771 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812264 68812264 G A 235396 deletion NM_004360.4(CDH1):c.1137+1delG 876659446 MedGen:C0027672,SNOMED CT:C0027672 16 68846167 68846167 G - 235396 deletion NM_004360.4(CDH1):c.1137+1delG 876659446 MedGen:C0027672,SNOMED CT:C0027672 16 68812264 68812264 G - 235397 single nucleotide variant NM_004360.4(CDH1):c.1183A>G (p.Thr395Ala) 201135424 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847261 68847261 A G 235397 single nucleotide variant NM_004360.4(CDH1):c.1183A>G (p.Thr395Ala) 201135424 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813358 68813358 A G 235398 single nucleotide variant NM_004360.4(CDH1):c.1218C>T (p.Thr406=) 876659476 MedGen:C0027672,SNOMED CT:C0027672 16 68847296 68847296 C T 235398 single nucleotide variant NM_004360.4(CDH1):c.1218C>T (p.Thr406=) 876659476 MedGen:C0027672,SNOMED CT:C0027672 16 68813393 68813393 C T 235399 single nucleotide variant NM_004360.4(CDH1):c.1230G>A (p.Glu410=) 876659952 MedGen:C0027672,SNOMED CT:C0027672 16 68847308 68847308 G A 235399 single nucleotide variant NM_004360.4(CDH1):c.1230G>A (p.Glu410=) 876659952 MedGen:C0027672,SNOMED CT:C0027672 16 68813405 68813405 G A 235400 single nucleotide variant NM_004360.4(CDH1):c.1257T>C (p.Asp419=) 876658765 MedGen:C0027672,SNOMED CT:C0027672 16 68847335 68847335 T C 235400 single nucleotide variant NM_004360.4(CDH1):c.1257T>C (p.Asp419=) 876658765 MedGen:C0027672,SNOMED CT:C0027672 16 68813432 68813432 T C 235401 single nucleotide variant NM_004360.4(CDH1):c.1286C>T (p.Pro429Leu) 876658766 MedGen:C0027672,SNOMED CT:C0027672 16 68847364 68847364 C T 235401 single nucleotide variant NM_004360.4(CDH1):c.1286C>T (p.Pro429Leu) 876658766 MedGen:C0027672,SNOMED CT:C0027672 16 68813461 68813461 C T 235402 single nucleotide variant NM_004360.4(CDH1):c.1313C>G (p.Thr438Arg) 876658218 MedGen:C0027672,SNOMED CT:C0027672 16 68847391 68847391 C G 235402 single nucleotide variant NM_004360.4(CDH1):c.1313C>G (p.Thr438Arg) 876658218 MedGen:C0027672,SNOMED CT:C0027672 16 68813488 68813488 C G 235403 single nucleotide variant NM_004360.4(CDH1):c.1318A>G (p.Lys440Glu) 778212100 MedGen:C0027672,SNOMED CT:C0027672 16 68847396 68847396 A G 235403 single nucleotide variant NM_004360.4(CDH1):c.1318A>G (p.Lys440Glu) 778212100 MedGen:C0027672,SNOMED CT:C0027672 16 68813493 68813493 A G 235404 single nucleotide variant NM_004360.4(CDH1):c.1325T>C (p.Leu442Ser) 752074266 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849422 68849422 T C 235404 single nucleotide variant NM_004360.4(CDH1):c.1325T>C (p.Leu442Ser) 752074266 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815519 68815519 T C 235405 single nucleotide variant NM_004360.4(CDH1):c.1363G>T (p.Ala455Ser) 876659762 MedGen:C0027672,SNOMED CT:C0027672 16 68849460 68849460 G T 235405 single nucleotide variant NM_004360.4(CDH1):c.1363G>T (p.Ala455Ser) 876659762 MedGen:C0027672,SNOMED CT:C0027672 16 68815557 68815557 G T 235406 single nucleotide variant NM_004360.4(CDH1):c.1382C>T (p.Pro461Leu) 876659268 MedGen:C0027672,SNOMED CT:C0027672 16 68849479 68849479 C T 235406 single nucleotide variant NM_004360.4(CDH1):c.1382C>T (p.Pro461Leu) 876659268 MedGen:C0027672,SNOMED CT:C0027672 16 68815576 68815576 C T 235407 single nucleotide variant NM_004360.4(CDH1):c.1403C>T (p.Thr468Ile) 876659141 MedGen:C0027672,SNOMED CT:C0027672 16 68849500 68849500 C T 235407 single nucleotide variant NM_004360.4(CDH1):c.1403C>T (p.Thr468Ile) 876659141 MedGen:C0027672,SNOMED CT:C0027672 16 68815597 68815597 C T 235408 single nucleotide variant NM_004360.4(CDH1):c.1443T>C (p.Asn481=) 876658750 MedGen:C0027672,SNOMED CT:C0027672 16 68849540 68849540 T C 235408 single nucleotide variant NM_004360.4(CDH1):c.1443T>C (p.Asn481=) 876658750 MedGen:C0027672,SNOMED CT:C0027672 16 68815637 68815637 T C 235409 single nucleotide variant NM_004360.4(CDH1):c.1464T>A (p.Pro488=) 876658378 MedGen:C0027672,SNOMED CT:C0027672 16 68849561 68849561 T A 235409 single nucleotide variant NM_004360.4(CDH1):c.1464T>A (p.Pro488=) 876658378 MedGen:C0027672,SNOMED CT:C0027672 16 68815658 68815658 T A 235410 deletion NM_004360.4(CDH1):c.1476_1477delAG (p.Arg492Serfs) 876659208 MedGen:C0027672,SNOMED CT:C0027672 16 68849573 68849574 AG - 235410 deletion NM_004360.4(CDH1):c.1476_1477delAG (p.Arg492Serfs) 876659208 MedGen:C0027672,SNOMED CT:C0027672 16 68815670 68815671 AG - 235411 deletion NM_004360.4(CDH1):c.1488_1494delCGAGGAC (p.Glu497Leufs) 876658261 MedGen:C0027672,SNOMED CT:C0027672 16 68849585 68849591 CGAGGAC - 235411 deletion NM_004360.4(CDH1):c.1488_1494delCGAGGAC (p.Glu497Leufs) 876658261 MedGen:C0027672,SNOMED CT:C0027672 16 68815682 68815688 CGAGGAC - 235412 single nucleotide variant NM_004360.4(CDH1):c.1509G>C (p.Gln503His) 876659548 MedGen:C0027672,SNOMED CT:C0027672 16 68849606 68849606 G C 235412 single nucleotide variant NM_004360.4(CDH1):c.1509G>C (p.Gln503His) 876659548 MedGen:C0027672,SNOMED CT:C0027672 16 68815703 68815703 G C 235413 single nucleotide variant NM_004360.4(CDH1):c.1516A>G (p.Thr506Ala) 114885938 MedGen:C0027672,SNOMED CT:C0027672 16 68849613 68849613 A G 235413 single nucleotide variant NM_004360.4(CDH1):c.1516A>G (p.Thr506Ala) 114885938 MedGen:C0027672,SNOMED CT:C0027672 16 68815710 68815710 A G 235414 single nucleotide variant NM_004360.4(CDH1):c.1526C>G (p.Thr509Ser) 771551231 MedGen:C0027672,SNOMED CT:C0027672 16 68849623 68849623 C G 235414 single nucleotide variant NM_004360.4(CDH1):c.1526C>G (p.Thr509Ser) 771551231 MedGen:C0027672,SNOMED CT:C0027672 16 68815720 68815720 C G 235415 single nucleotide variant NM_004360.4(CDH1):c.1533G>T (p.Gln511His) 876658342 MedGen:C0027672,SNOMED CT:C0027672 16 68849630 68849630 G T 235415 single nucleotide variant NM_004360.4(CDH1):c.1533G>T (p.Gln511His) 876658342 MedGen:C0027672,SNOMED CT:C0027672 16 68815727 68815727 G T 235416 single nucleotide variant NM_004360.4(CDH1):c.1534G>A (p.Glu512Lys) 876659244 MedGen:C0027672,SNOMED CT:C0027672 16 68849631 68849631 G A 235416 single nucleotide variant NM_004360.4(CDH1):c.1534G>A (p.Glu512Lys) 876659244 MedGen:C0027672,SNOMED CT:C0027672 16 68815728 68815728 G A 235417 single nucleotide variant NM_004360.4(CDH1):c.1549A>G (p.Met517Val) 876658146 MedGen:C0027672,SNOMED CT:C0027672 16 68849646 68849646 A G 235417 single nucleotide variant NM_004360.4(CDH1):c.1549A>G (p.Met517Val) 876658146 MedGen:C0027672,SNOMED CT:C0027672 16 68815743 68815743 A G 235418 single nucleotide variant NM_004360.4(CDH1):c.1550T>C (p.Met517Thr) 786203656 MedGen:C0027672,SNOMED CT:C0027672 16 68849647 68849647 T C 235418 single nucleotide variant NM_004360.4(CDH1):c.1550T>C (p.Met517Thr) 786203656 MedGen:C0027672,SNOMED CT:C0027672 16 68815744 68815744 T C 235419 single nucleotide variant NM_004360.4(CDH1):c.1550T>G (p.Met517Arg) 786203656 MedGen:C0027672,SNOMED CT:C0027672 16 68849647 68849647 T G 235419 single nucleotide variant NM_004360.4(CDH1):c.1550T>G (p.Met517Arg) 786203656 MedGen:C0027672,SNOMED CT:C0027672 16 68815744 68815744 T G 235420 single nucleotide variant NM_004360.4(CDH1):c.1569T>C (p.Tyr523=) 876659716 MedGen:C0027672,SNOMED CT:C0027672 16 68853186 68853186 T C 235420 single nucleotide variant NM_004360.4(CDH1):c.1569T>C (p.Tyr523=) 876659716 MedGen:C0027672,SNOMED CT:C0027672 16 68819283 68819283 T C 235421 single nucleotide variant NM_004360.4(CDH1):c.1570C>T (p.Arg524Trp) 373605261 MedGen:C0027672,SNOMED CT:C0027672 16 68853187 68853187 C T 235421 single nucleotide variant NM_004360.4(CDH1):c.1570C>T (p.Arg524Trp) 373605261 MedGen:C0027672,SNOMED CT:C0027672 16 68819284 68819284 C T 235422 single nucleotide variant NM_004360.4(CDH1):c.1571G>A (p.Arg524Gln) 761180883 MedGen:C0027672,SNOMED CT:C0027672 16 68853188 68853188 G A 235422 single nucleotide variant NM_004360.4(CDH1):c.1571G>A (p.Arg524Gln) 761180883 MedGen:C0027672,SNOMED CT:C0027672 16 68819285 68819285 G A 235423 single nucleotide variant NM_004360.4(CDH1):c.1636G>A (p.Ala546Thr) 876658877 MedGen:C0027672,SNOMED CT:C0027672 16 68853253 68853253 G A 235423 single nucleotide variant NM_004360.4(CDH1):c.1636G>A (p.Ala546Thr) 876658877 MedGen:C0027672,SNOMED CT:C0027672 16 68819350 68819350 G A 235424 single nucleotide variant NM_004360.4(CDH1):c.1645G>A (p.Asp549Asn) 876659525 MedGen:C0027672,SNOMED CT:C0027672 16 68853262 68853262 G A 235424 single nucleotide variant NM_004360.4(CDH1):c.1645G>A (p.Asp549Asn) 876659525 MedGen:C0027672,SNOMED CT:C0027672 16 68819359 68819359 G A 235425 single nucleotide variant NM_004360.4(CDH1):c.1696A>C (p.Ile566Leu) 775941240 MedGen:C0027672,SNOMED CT:C0027672 16 68853313 68853313 A C 235425 single nucleotide variant NM_004360.4(CDH1):c.1696A>C (p.Ile566Leu) 775941240 MedGen:C0027672,SNOMED CT:C0027672 16 68819410 68819410 A C 235426 single nucleotide variant NM_004360.4(CDH1):c.1707C>A (p.Asp569Glu) 876660905 MedGen:C0027672,SNOMED CT:C0027672 16 68819421 68819421 C A 235426 single nucleotide variant NM_004360.4(CDH1):c.1707C>A (p.Asp569Glu) 876660905 MedGen:C0027672,SNOMED CT:C0027672 16 68853324 68853324 C A 235427 single nucleotide variant NM_004360.4(CDH1):c.1716T>C (p.Ser572=) 876660176 MedGen:C0027672,SNOMED CT:C0027672 16 68855908 68855908 T C 235427 single nucleotide variant NM_004360.4(CDH1):c.1716T>C (p.Ser572=) 876660176 MedGen:C0027672,SNOMED CT:C0027672 16 68822005 68822005 T C 235428 single nucleotide variant NM_004360.4(CDH1):c.1720G>A (p.Val574Ile) 115934514 MedGen:C0027672,SNOMED CT:C0027672 16 68855912 68855912 G A 235428 single nucleotide variant NM_004360.4(CDH1):c.1720G>A (p.Val574Ile) 115934514 MedGen:C0027672,SNOMED CT:C0027672 16 68822009 68822009 G A 235429 single nucleotide variant NM_004360.4(CDH1):c.1773C>T (p.Asn591=) 373719554 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855965 68855965 C T 235429 single nucleotide variant NM_004360.4(CDH1):c.1773C>T (p.Asn591=) 373719554 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822062 68822062 C T 235430 single nucleotide variant NM_004360.4(CDH1):c.1776C>T (p.Ala592=) 876660329 MedGen:C0027672,SNOMED CT:C0027672 16 68822065 68822065 C T 235430 single nucleotide variant NM_004360.4(CDH1):c.1776C>T (p.Ala592=) 876660329 MedGen:C0027672,SNOMED CT:C0027672 16 68855968 68855968 C T 235431 single nucleotide variant NM_004360.4(CDH1):c.1796C>T (p.Thr599Ile) 377302798 MedGen:C0027672,SNOMED CT:C0027672 16 68855988 68855988 C T 235431 single nucleotide variant NM_004360.4(CDH1):c.1796C>T (p.Thr599Ile) 377302798 MedGen:C0027672,SNOMED CT:C0027672 16 68822085 68822085 C T 235432 single nucleotide variant NM_004360.4(CDH1):c.1824G>A (p.Lys608=) 373987896 MedGen:C0027672,SNOMED CT:C0027672 16 68856016 68856016 G A 235432 single nucleotide variant NM_004360.4(CDH1):c.1824G>A (p.Lys608=) 373987896 MedGen:C0027672,SNOMED CT:C0027672 16 68822113 68822113 G A 235433 single nucleotide variant NM_004360.4(CDH1):c.1832T>A (p.Val611Asp) 779351070 MedGen:C0027672,SNOMED CT:C0027672 16 68856024 68856024 T A 235433 single nucleotide variant NM_004360.4(CDH1):c.1832T>A (p.Val611Asp) 779351070 MedGen:C0027672,SNOMED CT:C0027672 16 68822121 68822121 T A 235434 single nucleotide variant NM_004360.4(CDH1):c.1844T>C (p.Ile615Thr) 760707493 MedGen:C0027672,SNOMED CT:C0027672 16 68856036 68856036 T C 235434 single nucleotide variant NM_004360.4(CDH1):c.1844T>C (p.Ile615Thr) 760707493 MedGen:C0027672,SNOMED CT:C0027672 16 68822133 68822133 T C 235435 single nucleotide variant NM_004360.4(CDH1):c.1855C>T (p.Leu619Phe) 876659221 MedGen:C0027672,SNOMED CT:C0027672 16 68856047 68856047 C T 235435 single nucleotide variant NM_004360.4(CDH1):c.1855C>T (p.Leu619Phe) 876659221 MedGen:C0027672,SNOMED CT:C0027672 16 68822144 68822144 C T 235436 single nucleotide variant NM_004360.4(CDH1):c.1872T>C (p.Ser624=) 876659970 MedGen:C0027672,SNOMED CT:C0027672 16 68856064 68856064 T C 235436 single nucleotide variant NM_004360.4(CDH1):c.1872T>C (p.Ser624=) 876659970 MedGen:C0027672,SNOMED CT:C0027672 16 68822161 68822161 T C 235437 single nucleotide variant NM_004360.4(CDH1):c.1876T>G (p.Phe626Val) 876660603 MedGen:C0027672,SNOMED CT:C0027672 16 68822165 68822165 T G 235437 single nucleotide variant NM_004360.4(CDH1):c.1876T>G (p.Phe626Val) 876660603 MedGen:C0027672,SNOMED CT:C0027672 16 68856068 68856068 T G 235438 single nucleotide variant NM_004360.4(CDH1):c.1893A>T (p.Thr631=) 786201452 MedGen:C0027672,SNOMED CT:C0027672 16 68856085 68856085 A T 235438 single nucleotide variant NM_004360.4(CDH1):c.1893A>T (p.Thr631=) 786201452 MedGen:C0027672,SNOMED CT:C0027672 16 68822182 68822182 A T 235439 single nucleotide variant NM_004360.4(CDH1):c.1906G>A (p.Ala636Thr) 876658950 MedGen:C0027672,SNOMED CT:C0027672 16 68856098 68856098 G A 235439 single nucleotide variant NM_004360.4(CDH1):c.1906G>A (p.Ala636Thr) 876658950 MedGen:C0027672,SNOMED CT:C0027672 16 68822195 68822195 G A 235440 single nucleotide variant NM_004360.4(CDH1):c.1922A>G (p.Gln641Arg) 876660113 MedGen:C0027672,SNOMED CT:C0027672 16 68822211 68822211 A G 235440 single nucleotide variant NM_004360.4(CDH1):c.1922A>G (p.Gln641Arg) 876660113 MedGen:C0027672,SNOMED CT:C0027672 16 68856114 68856114 A G 235441 single nucleotide variant NM_004360.4(CDH1):c.1951A>G (p.Ile651Val) 876660503 MedGen:C0027672,SNOMED CT:C0027672 16 68857316 68857316 A G 235441 single nucleotide variant NM_004360.4(CDH1):c.1951A>G (p.Ile651Val) 876660503 MedGen:C0027672,SNOMED CT:C0027672 16 68823413 68823413 A G 235442 single nucleotide variant NM_004360.4(CDH1):c.1977G>T (p.Glu659Asp) 368243190 MedGen:C0027672,SNOMED CT:C0027672 16 68857342 68857342 G T 235442 single nucleotide variant NM_004360.4(CDH1):c.1977G>T (p.Glu659Asp) 368243190 MedGen:C0027672,SNOMED CT:C0027672 16 68823439 68823439 G T 235443 single nucleotide variant NM_004360.4(CDH1):c.1983T>C (p.Gly661=) 748114797 MedGen:C0027672,SNOMED CT:C0027672 16 68823445 68823445 T C 235443 single nucleotide variant NM_004360.4(CDH1):c.1983T>C (p.Gly661=) 748114797 MedGen:C0027672,SNOMED CT:C0027672 16 68857348 68857348 T C 235444 single nucleotide variant NM_004360.4(CDH1):c.2008A>G (p.Met670Val) 876660107 MedGen:C0027672,SNOMED CT:C0027672 16 68857373 68857373 A G 235444 single nucleotide variant NM_004360.4(CDH1):c.2008A>G (p.Met670Val) 876660107 MedGen:C0027672,SNOMED CT:C0027672 16 68823470 68823470 A G 235445 single nucleotide variant NM_004360.4(CDH1):c.2009T>C (p.Met670Thr) 773006015 MedGen:C0027672,SNOMED CT:C0027672 16 68857374 68857374 T C 235445 single nucleotide variant NM_004360.4(CDH1):c.2009T>C (p.Met670Thr) 773006015 MedGen:C0027672,SNOMED CT:C0027672 16 68823471 68823471 T C 235446 single nucleotide variant NM_004360.4(CDH1):c.2024A>G (p.Lys675Arg) 876660230 MedGen:C0027672,SNOMED CT:C0027672 16 68823486 68823486 A G 235446 single nucleotide variant NM_004360.4(CDH1):c.2024A>G (p.Lys675Arg) 876660230 MedGen:C0027672,SNOMED CT:C0027672 16 68857389 68857389 A G 235447 single nucleotide variant NM_004360.4(CDH1):c.2033T>C (p.Val678Ala) 876659352 MedGen:C0027672,SNOMED CT:C0027672 16 68857398 68857398 T C 235447 single nucleotide variant NM_004360.4(CDH1):c.2033T>C (p.Val678Ala) 876659352 MedGen:C0027672,SNOMED CT:C0027672 16 68823495 68823495 T C 235448 single nucleotide variant NM_004360.4(CDH1):c.2038A>G (p.Thr680Ala) 876658936 MedGen:C0027672,SNOMED CT:C0027672 16 68857403 68857403 A G 235448 single nucleotide variant NM_004360.4(CDH1):c.2038A>G (p.Thr680Ala) 876658936 MedGen:C0027672,SNOMED CT:C0027672 16 68823500 68823500 A G 235449 single nucleotide variant NM_004360.4(CDH1):c.2053G>C (p.Val685Leu) 550612843 MedGen:C0027672,SNOMED CT:C0027672 16 68857418 68857418 G C 235449 single nucleotide variant NM_004360.4(CDH1):c.2053G>C (p.Val685Leu) 550612843 MedGen:C0027672,SNOMED CT:C0027672 16 68823515 68823515 G C 235450 single nucleotide variant NM_004360.4(CDH1):c.2071G>A (p.Ala691Thr) 876660560 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823533 68823533 G A 235450 single nucleotide variant NM_004360.4(CDH1):c.2071G>A (p.Ala691Thr) 876660560 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857436 68857436 G A 235451 single nucleotide variant NM_004360.4(CDH1):c.2108C>T (p.Ala703Val) 876658987 MedGen:C0027672,SNOMED CT:C0027672 16 68857473 68857473 C T 235451 single nucleotide variant NM_004360.4(CDH1):c.2108C>T (p.Ala703Val) 876658987 MedGen:C0027672,SNOMED CT:C0027672 16 68823570 68823570 C T 235452 single nucleotide variant NM_004360.4(CDH1):c.2128A>C (p.Ile710Leu) 876660625 MedGen:C0027672,SNOMED CT:C0027672 16 68857493 68857493 A C 235452 single nucleotide variant NM_004360.4(CDH1):c.2128A>C (p.Ile710Leu) 876660625 MedGen:C0027672,SNOMED CT:C0027672 16 68823590 68823590 A C 235453 single nucleotide variant NM_004360.4(CDH1):c.2152C>G (p.Leu718Val) 876658591 MedGen:C0027672,SNOMED CT:C0027672 16 68857517 68857517 C G 235453 single nucleotide variant NM_004360.4(CDH1):c.2152C>G (p.Leu718Val) 876658591 MedGen:C0027672,SNOMED CT:C0027672 16 68823614 68823614 C G 235454 single nucleotide variant NM_004360.4(CDH1):c.2178G>A (p.Leu726=) 751544748 MedGen:C0027672,SNOMED CT:C0027672 16 68862090 68862090 G A 235454 single nucleotide variant NM_004360.4(CDH1):c.2178G>A (p.Leu726=) 751544748 MedGen:C0027672,SNOMED CT:C0027672 16 68828187 68828187 G A 235455 single nucleotide variant NM_004360.4(CDH1):c.2227C>G (p.Pro743Ala) 786203005 MedGen:C0027672,SNOMED CT:C0027672 16 68862139 68862139 C G 235455 single nucleotide variant NM_004360.4(CDH1):c.2227C>G (p.Pro743Ala) 786203005 MedGen:C0027672,SNOMED CT:C0027672 16 68828236 68828236 C G 235456 single nucleotide variant NM_004360.4(CDH1):c.2249A>G (p.Asp750Gly) 759608783 MedGen:C0027672,SNOMED CT:C0027672 16 68862161 68862161 A G 235456 single nucleotide variant NM_004360.4(CDH1):c.2249A>G (p.Asp750Gly) 759608783 MedGen:C0027672,SNOMED CT:C0027672 16 68828258 68828258 A G 235457 single nucleotide variant NM_004360.4(CDH1):c.2265T>C (p.Tyr755=) 876658944 MedGen:C0027672,SNOMED CT:C0027672 16 68862177 68862177 T C 235457 single nucleotide variant NM_004360.4(CDH1):c.2265T>C (p.Tyr755=) 876658944 MedGen:C0027672,SNOMED CT:C0027672 16 68828274 68828274 T C 235458 single nucleotide variant NM_004360.4(CDH1):c.2282G>C (p.Gly761Ala) 876659664 MedGen:C0027672,SNOMED CT:C0027672 16 68862194 68862194 G C 235458 single nucleotide variant NM_004360.4(CDH1):c.2282G>C (p.Gly761Ala) 876659664 MedGen:C0027672,SNOMED CT:C0027672 16 68828291 68828291 G C 235459 single nucleotide variant NM_004360.4(CDH1):c.2292C>A (p.Asp764Glu) 61747636 MedGen:C0027672,SNOMED CT:C0027672 16 68862204 68862204 C A 235459 single nucleotide variant NM_004360.4(CDH1):c.2292C>A (p.Asp764Glu) 61747636 MedGen:C0027672,SNOMED CT:C0027672 16 68828301 68828301 C A 235460 single nucleotide variant NM_004360.4(CDH1):c.2293C>T (p.Gln765Ter) 876658575 MedGen:C0027672,SNOMED CT:C0027672 16 68862205 68862205 C T 235460 single nucleotide variant NM_004360.4(CDH1):c.2293C>T (p.Gln765Ter) 876658575 MedGen:C0027672,SNOMED CT:C0027672 16 68828302 68828302 C T 235461 single nucleotide variant NM_004360.4(CDH1):c.2296-2A>G 876660393 MedGen:C0027672,SNOMED CT:C0027672 16 68863555 68863555 A G 235461 single nucleotide variant NM_004360.4(CDH1):c.2296-2A>G 876660393 MedGen:C0027672,SNOMED CT:C0027672 16 68829652 68829652 A G 235462 single nucleotide variant NM_004360.4(CDH1):c.2333C>T (p.Ala778Val) 876659951 MedGen:C0027672,SNOMED CT:C0027672 16 68863594 68863594 C T 235462 single nucleotide variant NM_004360.4(CDH1):c.2333C>T (p.Ala778Val) 876659951 MedGen:C0027672,SNOMED CT:C0027672 16 68829691 68829691 C T 235463 single nucleotide variant NM_004360.4(CDH1):c.2335C>T (p.Arg779Trp) 876660183 MedGen:C0027672,SNOMED CT:C0027672 16 68863596 68863596 C T 235463 single nucleotide variant NM_004360.4(CDH1):c.2335C>T (p.Arg779Trp) 876660183 MedGen:C0027672,SNOMED CT:C0027672 16 68829693 68829693 C T 235464 single nucleotide variant NM_004360.4(CDH1):c.2348C>T (p.Thr783Ile) 876658467 MedGen:C0027672,SNOMED CT:C0027672 16 68863609 68863609 C T 235464 single nucleotide variant NM_004360.4(CDH1):c.2348C>T (p.Thr783Ile) 876658467 MedGen:C0027672,SNOMED CT:C0027672 16 68829706 68829706 C T 235465 single nucleotide variant NM_004360.4(CDH1):c.2350C>T (p.Arg784Cys) 775922721 MedGen:C0027672,SNOMED CT:C0027672 16 68863611 68863611 C T 235465 single nucleotide variant NM_004360.4(CDH1):c.2350C>T (p.Arg784Cys) 775922721 MedGen:C0027672,SNOMED CT:C0027672 16 68829708 68829708 C T 235466 single nucleotide variant NM_004360.4(CDH1):c.2356G>A (p.Asp786Asn) 876659218 MedGen:C0027672,SNOMED CT:C0027672 16 68863617 68863617 G A 235466 single nucleotide variant NM_004360.4(CDH1):c.2356G>A (p.Asp786Asn) 876659218 MedGen:C0027672,SNOMED CT:C0027672 16 68829714 68829714 G A 235467 single nucleotide variant NM_004360.4(CDH1):c.2401C>G (p.Pro801Ala) 876660704 MedGen:C0027672,SNOMED CT:C0027672 16 68863662 68863662 C G 235467 single nucleotide variant NM_004360.4(CDH1):c.2401C>G (p.Pro801Ala) 876660704 MedGen:C0027672,SNOMED CT:C0027672 16 68829759 68829759 C G 235468 single nucleotide variant NM_004360.4(CDH1):c.2464C>T (p.Pro822Ser) 876660086 MedGen:C0027672,SNOMED CT:C0027672 16 68867217 68867217 C T 235468 single nucleotide variant NM_004360.4(CDH1):c.2464C>T (p.Pro822Ser) 876660086 MedGen:C0027672,SNOMED CT:C0027672 16 68833314 68833314 C T 235469 single nucleotide variant NM_004360.4(CDH1):c.2475G>A (p.Pro825=) 755658014 MedGen:C0027672,SNOMED CT:C0027672 16 68867228 68867228 G A 235469 single nucleotide variant NM_004360.4(CDH1):c.2475G>A (p.Pro825=) 755658014 MedGen:C0027672,SNOMED CT:C0027672 16 68833325 68833325 G A 235470 single nucleotide variant NM_004360.4(CDH1):c.2521G>A (p.Glu841Lys) 377489352 MedGen:C0027672,SNOMED CT:C0027672 16 68867274 68867274 G A 235470 single nucleotide variant NM_004360.4(CDH1):c.2521G>A (p.Glu841Lys) 377489352 MedGen:C0027672,SNOMED CT:C0027672 16 68833371 68833371 G A 235471 single nucleotide variant NM_004360.4(CDH1):c.2545A>G (p.Asn849Asp) 876660881 MedGen:C0027672,SNOMED CT:C0027672 16 68867298 68867298 A G 235471 single nucleotide variant NM_004360.4(CDH1):c.2545A>G (p.Asn849Asp) 876660881 MedGen:C0027672,SNOMED CT:C0027672 16 68833395 68833395 A G 235472 single nucleotide variant NM_004360.4(CDH1):c.2603G>A (p.Arg868His) 369126891 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867356 68867356 G A 235472 single nucleotide variant NM_004360.4(CDH1):c.2603G>A (p.Arg868His) 369126891 MedGen:C0027672,SNOMED CT:C0027672;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833453 68833453 G A 235473 single nucleotide variant NM_004360.4(CDH1):c.*5C>G 876658326 MedGen:C0027672,SNOMED CT:C0027672 16 68867407 68867407 C G 235473 single nucleotide variant NM_004360.4(CDH1):c.*5C>G 876658326 MedGen:C0027672,SNOMED CT:C0027672 16 68833504 68833504 C G 242187 duplication NM_004360.4(CDH1):c.-124-?_*2042+?dup4815 -1 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 na -1 -1 na na 242462 single nucleotide variant NM_004360.4(CDH1):c.653A>G (p.Glu218Gly) 878854693 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842717 68842717 A G 242447 single nucleotide variant NM_004360.4(CDH1):c.-49G>T 564350060 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771270 68771270 G T 242447 single nucleotide variant NM_004360.4(CDH1):c.-49G>T 564350060 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737367 68737367 G T 242448 single nucleotide variant NM_004360.4(CDH1):c.3G>A (p.Met1Ile) 878854691 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771321 68771321 G A 242448 single nucleotide variant NM_004360.4(CDH1):c.3G>A (p.Met1Ile) 878854691 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737418 68737418 G A 242449 single nucleotide variant NM_004360.4(CDH1):c.5G>T (p.Gly2Val) 878854692 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771323 68771323 G T 242449 single nucleotide variant NM_004360.4(CDH1):c.5G>T (p.Gly2Val) 878854692 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737420 68737420 G T 242450 single nucleotide variant NM_004360.4(CDH1):c.79C>T (p.Pro27Ser) 878854696 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738327 68738327 C T 242450 single nucleotide variant NM_004360.4(CDH1):c.79C>T (p.Pro27Ser) 878854696 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772230 68772230 C T 242451 single nucleotide variant NM_004360.4(CDH1):c.150C>A (p.Arg50=) 786201262 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738398 68738398 C A 242451 single nucleotide variant NM_004360.4(CDH1):c.150C>A (p.Arg50=) 786201262 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772301 68772301 C A 242452 duplication NM_004360.4(CDH1):c.163+10_163+17dupCGCTGCCG 878854679 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772324 68772331 CGCTGCCG CGCTGCCGCGCTGCCG 242452 duplication NM_004360.4(CDH1):c.163+10_163+17dupCGCTGCCG 878854679 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738421 68738428 CGCTGCCG CGCTGCCGCGCTGCCG 242453 single nucleotide variant NM_004360.4(CDH1):c.220C>T (p.Arg74Ter) 876658932 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835629 68835629 C T 242453 single nucleotide variant NM_004360.4(CDH1):c.220C>T (p.Arg74Ter) 876658932 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801726 68801726 C T 242454 single nucleotide variant NM_004360.4(CDH1):c.249T>C (p.Ile83=) 878854687 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835658 68835658 T C 242454 single nucleotide variant NM_004360.4(CDH1):c.249T>C (p.Ile83=) 878854687 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801755 68801755 T C 242455 single nucleotide variant NM_004360.4(CDH1):c.254T>C (p.Val85Ala) 878854688 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801760 68801760 T C 242455 single nucleotide variant NM_004360.4(CDH1):c.254T>C (p.Val85Ala) 878854688 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835663 68835663 T C 242456 single nucleotide variant NM_004360.4(CDH1):c.261G>C (p.Arg87Ser) 878854689 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801767 68801767 G C 242456 single nucleotide variant NM_004360.4(CDH1):c.261G>C (p.Arg87Ser) 878854689 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835670 68835670 G C 242457 duplication NM_004360.4(CDH1):c.360dupG (p.His121Alafs) 878854690 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835769 68835769 G GG 242457 duplication NM_004360.4(CDH1):c.360dupG (p.His121Alafs) 878854690 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801866 68801866 G GG 242458 single nucleotide variant NM_004360.4(CDH1):c.370C>T (p.Arg124Cys) 748086082 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68801876 68801876 C T 242458 single nucleotide variant NM_004360.4(CDH1):c.370C>T (p.Arg124Cys) 748086082 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835779 68835779 C T 242459 single nucleotide variant NM_004360.4(CDH1):c.388-4T>C 750722169 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808420 68808420 T C 242459 single nucleotide variant NM_004360.4(CDH1):c.388-4T>C 750722169 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842323 68842323 T C 242460 single nucleotide variant NM_004360.4(CDH1):c.488G>C (p.Cys163Ser) 748783182 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808524 68808524 G C 242460 single nucleotide variant NM_004360.4(CDH1):c.488G>C (p.Cys163Ser) 748783182 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842427 68842427 G C 242461 single nucleotide variant NM_004360.4(CDH1):c.570C>T (p.Tyr190=) 761753486 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842634 68842634 C T 242461 single nucleotide variant NM_004360.4(CDH1):c.570C>T (p.Tyr190=) 761753486 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808731 68808731 C T 242462 single nucleotide variant NM_004360.4(CDH1):c.653A>G (p.Glu218Gly) 878854693 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808814 68808814 A G 242463 single nucleotide variant NM_004360.4(CDH1):c.700G>A (p.Ala234Thr) 878854694 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844112 68844112 G A 242463 single nucleotide variant NM_004360.4(CDH1):c.700G>A (p.Ala234Thr) 878854694 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810209 68810209 G A 242464 single nucleotide variant NM_004360.4(CDH1):c.795G>A (p.Glu265=) 878854695 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810304 68810304 G A 242464 single nucleotide variant NM_004360.4(CDH1):c.795G>A (p.Glu265=) 878854695 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844207 68844207 G A 242465 single nucleotide variant NM_004360.4(CDH1):c.832+1G>T 878854697 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810342 68810342 G T 242465 single nucleotide variant NM_004360.4(CDH1):c.832+1G>T 878854697 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844245 68844245 G T 242466 single nucleotide variant NM_004360.4(CDH1):c.833-9C>G 878854698 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845578 68845578 C G 242466 single nucleotide variant NM_004360.4(CDH1):c.833-9C>G 878854698 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811675 68811675 C G 242467 single nucleotide variant NM_004360.4(CDH1):c.896C>G (p.Ala299Gly) 745807727 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68811747 68811747 C G 242467 single nucleotide variant NM_004360.4(CDH1):c.896C>G (p.Ala299Gly) 745807727 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68845650 68845650 C G 242468 single nucleotide variant NM_004360.4(CDH1):c.1009-6C>T 771652165 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846032 68846032 C T 242468 single nucleotide variant NM_004360.4(CDH1):c.1009-6C>T 771652165 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812129 68812129 C T 242469 single nucleotide variant NM_004360.4(CDH1):c.1023T>C (p.Tyr341=) 587776398 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846052 68846052 T C 242469 single nucleotide variant NM_004360.4(CDH1):c.1023T>C (p.Tyr341=) 587776398 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812149 68812149 T C 242470 single nucleotide variant NM_004360.4(CDH1):c.1036C>G (p.Gln346Glu) 878854676 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812162 68812162 C G 242470 single nucleotide variant NM_004360.4(CDH1):c.1036C>G (p.Gln346Glu) 878854676 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846065 68846065 C G 242471 single nucleotide variant NM_004360.4(CDH1):c.1228G>C (p.Glu410Gln) 187906987 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813403 68813403 G C 242471 single nucleotide variant NM_004360.4(CDH1):c.1228G>C (p.Glu410Gln) 187906987 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847306 68847306 G C 242472 single nucleotide variant NM_004360.4(CDH1):c.1233T>C (p.Ala411=) 779630879 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847311 68847311 T C 242472 single nucleotide variant NM_004360.4(CDH1):c.1233T>C (p.Ala411=) 779630879 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813408 68813408 T C 242473 single nucleotide variant NM_004360.4(CDH1):c.1259G>A (p.Gly420Asp) 878854677 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68847337 68847337 G A 242473 single nucleotide variant NM_004360.4(CDH1):c.1259G>A (p.Gly420Asp) 878854677 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68813434 68813434 G A 242474 single nucleotide variant NM_004360.4(CDH1):c.1416C>A (p.Thr472=) 139937234 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849513 68849513 C A 242474 single nucleotide variant NM_004360.4(CDH1):c.1416C>A (p.Thr472=) 139937234 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815610 68815610 C A 242475 single nucleotide variant NM_004360.4(CDH1):c.1466C>T (p.Pro489Leu) 766713582 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815660 68815660 C T 242475 single nucleotide variant NM_004360.4(CDH1):c.1466C>T (p.Pro489Leu) 766713582 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849563 68849563 C T 242476 single nucleotide variant NM_004360.4(CDH1):c.1479G>A (p.Val493=) 755157715 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815673 68815673 G A 242476 single nucleotide variant NM_004360.4(CDH1):c.1479G>A (p.Val493=) 755157715 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849576 68849576 G A 242477 single nucleotide variant NM_004360.4(CDH1):c.1497T>C (p.Phe499=) 878854678 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815691 68815691 T C 242477 single nucleotide variant NM_004360.4(CDH1):c.1497T>C (p.Phe499=) 878854678 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849594 68849594 T C 242478 single nucleotide variant NM_004360.4(CDH1):c.1526C>A (p.Thr509Asn) 771551231 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68815720 68815720 C A 242478 single nucleotide variant NM_004360.4(CDH1):c.1526C>A (p.Thr509Asn) 771551231 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68849623 68849623 C A 242479 single nucleotide variant NM_004360.4(CDH1):c.1566-7C>T 747783435 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68853176 68853176 C T 242479 single nucleotide variant NM_004360.4(CDH1):c.1566-7C>T 747783435 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68819273 68819273 C T 242480 single nucleotide variant NM_004360.4(CDH1):c.1726A>T (p.Thr576Ser) 759536558 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855918 68855918 A T 242480 single nucleotide variant NM_004360.4(CDH1):c.1726A>T (p.Thr576Ser) 759536558 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822015 68822015 A T 242481 single nucleotide variant NM_004360.4(CDH1):c.1800A>G (p.Ile600Met) 878854680 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68855992 68855992 A G 242481 single nucleotide variant NM_004360.4(CDH1):c.1800A>G (p.Ile600Met) 878854680 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822089 68822089 A G 242482 single nucleotide variant NM_004360.4(CDH1):c.2098C>G (p.Pro700Ala) 878854681 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68857463 68857463 C G 242482 single nucleotide variant NM_004360.4(CDH1):c.2098C>G (p.Pro700Ala) 878854681 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68823560 68823560 C G 242483 single nucleotide variant NM_004360.4(CDH1):c.2165T>C (p.Ile722Thr) 878854682 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68828174 68828174 T C 242483 single nucleotide variant NM_004360.4(CDH1):c.2165T>C (p.Ile722Thr) 878854682 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68862077 68862077 T C 242484 deletion NM_004360.4(CDH1):c.2282_2284delGAG (p.Gly761del) 878854683 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68862194 68862196 GAG - 242484 deletion NM_004360.4(CDH1):c.2282_2284delGAG (p.Gly761del) 878854683 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68828291 68828293 GAG - 242485 single nucleotide variant NM_004360.4(CDH1):c.2332G>A (p.Ala778Thr) 777078601 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829690 68829690 G A 242485 single nucleotide variant NM_004360.4(CDH1):c.2332G>A (p.Ala778Thr) 777078601 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863593 68863593 G A 242486 single nucleotide variant NM_004360.4(CDH1):c.2435A>G (p.Asp812Gly) 878854684 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829793 68829793 A G 242486 single nucleotide variant NM_004360.4(CDH1):c.2435A>G (p.Asp812Gly) 878854684 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863696 68863696 A G 242487 single nucleotide variant NM_004360.4(CDH1):c.2454T>C (p.Ala818=) 761471987 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867207 68867207 T C 242487 single nucleotide variant NM_004360.4(CDH1):c.2454T>C (p.Ala818=) 761471987 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833304 68833304 T C 242488 single nucleotide variant NM_004360.4(CDH1):c.2458A>G (p.Thr820Ala) 878854685 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833308 68833308 A G 242488 single nucleotide variant NM_004360.4(CDH1):c.2458A>G (p.Thr820Ala) 878854685 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867211 68867211 A G 242489 single nucleotide variant NM_004360.4(CDH1):c.2467A>G (p.Thr823Ala) 878854686 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867220 68867220 A G 242489 single nucleotide variant NM_004360.4(CDH1):c.2467A>G (p.Thr823Ala) 878854686 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833317 68833317 A G 242490 single nucleotide variant NM_004360.4(CDH1):c.2490G>A (p.Leu830=) 754360330 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867243 68867243 G A 242490 single nucleotide variant NM_004360.4(CDH1):c.2490G>A (p.Leu830=) 754360330 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833340 68833340 G A 242491 single nucleotide variant NM_004360.4(CDH1):c.2535G>A (p.Leu845=) 144902472 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833385 68833385 G A 242491 single nucleotide variant NM_004360.4(CDH1):c.2535G>A (p.Leu845=) 144902472 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867288 68867288 G A 255855 duplication NM_004360.4(CDH1):c.2164+17dupA 34939176 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68823643 68823643 A AA 255855 duplication NM_004360.4(CDH1):c.2164+17dupA 34939176 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN169374 16 68857546 68857546 A AA 255856 single nucleotide variant NM_004360.4(CDH1):c.2439+22C>T 34751606 MedGen:CN169374 16 68863722 68863722 C T 255856 single nucleotide variant NM_004360.4(CDH1):c.2439+22C>T 34751606 MedGen:CN169374 16 68829819 68829819 C T 260122 single nucleotide variant NM_004360.4(CDH1):c.1320+1G>C 886039685 MedGen:CN221809 16 68847399 68847399 G C 260122 single nucleotide variant NM_004360.4(CDH1):c.1320+1G>C 886039685 MedGen:CN221809 16 68813496 68813496 G C 260123 deletion NM_004360.4(CDH1):c.1354_1357delCTAC (p.Leu452Thrfs) 886039612 MedGen:CN221809 16 68849451 68849454 CTAC - 260123 deletion NM_004360.4(CDH1):c.1354_1357delCTAC (p.Leu452Thrfs) 886039612 MedGen:CN221809 16 68815548 68815551 CTAC - 260124 single nucleotide variant NM_004360.4(CDH1):c.1578G>A (p.Trp526Ter) 886039590 MedGen:CN221809 16 68853195 68853195 G A 260124 single nucleotide variant NM_004360.4(CDH1):c.1578G>A (p.Trp526Ter) 886039590 MedGen:CN221809 16 68819292 68819292 G A 264638 deletion NM_004360.4(CDH1):c.1008+4delA 746392709 MedGen:CN169374 16 68845766 68845766 A - 264638 deletion NM_004360.4(CDH1):c.1008+4delA 746392709 MedGen:CN169374 16 68811863 68811863 A - 264640 single nucleotide variant NM_004360.4(CDH1):c.1700C>T (p.Ala567Val) 886041160 MedGen:CN169374 16 68853317 68853317 C T 264640 single nucleotide variant NM_004360.4(CDH1):c.1700C>T (p.Ala567Val) 886041160 MedGen:CN169374 16 68819414 68819414 C T 264966 single nucleotide variant NM_004360.4(CDH1):c.-44G>A 886041159 MedGen:CN169374 16 68771275 68771275 G A 264966 single nucleotide variant NM_004360.4(CDH1):c.-44G>A 886041159 MedGen:CN169374 16 68737372 68737372 G A 264968 single nucleotide variant NM_004360.4(CDH1):c.1711+1G>C 886041161 MedGen:CN221809 16 68853329 68853329 G C 264968 single nucleotide variant NM_004360.4(CDH1):c.1711+1G>C 886041161 MedGen:CN221809 16 68819426 68819426 G C 264974 single nucleotide variant NM_004360.4(CDH1):c.2296-3A>G 113067020 MedGen:CN169374 16 68863554 68863554 A G 264974 single nucleotide variant NM_004360.4(CDH1):c.2296-3A>G 113067020 MedGen:CN169374 16 68829651 68829651 A G 326160 single nucleotide variant NM_004360.4(CDH1):c.1137+9A>T 780705655 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812272 68812272 A T 326160 single nucleotide variant NM_004360.4(CDH1):c.1137+9A>T 780705655 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846175 68846175 A T 326162 single nucleotide variant NM_004360.4(CDH1):c.*172A>C 886052237 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833671 68833671 A C 326162 single nucleotide variant NM_004360.4(CDH1):c.*172A>C 886052237 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867574 68867574 A C 326171 single nucleotide variant NM_004360.4(CDH1):c.*774A>G 549231645 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868176 68868176 A G 326164 single nucleotide variant NM_004360.4(CDH1):c.*209C>T 35942505 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833708 68833708 C T 326164 single nucleotide variant NM_004360.4(CDH1):c.*209C>T 35942505 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867611 68867611 C T 326166 single nucleotide variant NM_004360.4(CDH1):c.*309C>T 562205897 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833808 68833808 C T 326166 single nucleotide variant NM_004360.4(CDH1):c.*309C>T 562205897 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867711 68867711 C T 326168 single nucleotide variant NM_004360.4(CDH1):c.*589C>T 8049282 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834088 68834088 C T 326168 single nucleotide variant NM_004360.4(CDH1):c.*589C>T 8049282 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867991 68867991 C T 326171 single nucleotide variant NM_004360.4(CDH1):c.*774A>G 549231645 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834273 68834273 A G 326172 single nucleotide variant NM_004360.4(CDH1):c.*959C>A 886052243 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834458 68834458 C A 326172 single nucleotide variant NM_004360.4(CDH1):c.*959C>A 886052243 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868361 68868361 C A 326174 single nucleotide variant NM_004360.4(CDH1):c.*988G>A 9282653 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834487 68834487 G A 326174 single nucleotide variant NM_004360.4(CDH1):c.*988G>A 9282653 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868390 68868390 G A 326175 deletion NM_004360.4(CDH1):c.*1974_*1978delTTCAA 886052247 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835473 68835477 TTCAA - 326175 deletion NM_004360.4(CDH1):c.*1974_*1978delTTCAA 886052247 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869376 68869380 TTCAA - 335828 single nucleotide variant NM_004360.4(CDH1):c.1887A>G (p.Glu629=) 886052236 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822176 68822176 A G 335828 single nucleotide variant NM_004360.4(CDH1):c.1887A>G (p.Glu629=) 886052236 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856079 68856079 A G 335836 single nucleotide variant NM_004360.4(CDH1):c.*193G>C 886052238 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833692 68833692 G C 335836 single nucleotide variant NM_004360.4(CDH1):c.*193G>C 886052238 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867595 68867595 G C 335837 single nucleotide variant NM_004360.4(CDH1):c.*346A>T 754600872 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833845 68833845 A T 335837 single nucleotide variant NM_004360.4(CDH1):c.*346A>T 754600872 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867748 68867748 A T 335840 single nucleotide variant NM_004360.4(CDH1):c.*410A>T 33956133 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833909 68833909 A T 335840 single nucleotide variant NM_004360.4(CDH1):c.*410A>T 33956133 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867812 68867812 A T 335843 duplication NM_004360.4(CDH1):c.*474_*475dupTT 886052240 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833973 68833974 TT TTTT 335843 duplication NM_004360.4(CDH1):c.*474_*475dupTT 886052240 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867876 68867877 TT TTTT 335853 single nucleotide variant NM_004360.4(CDH1):c.*1662G>C 33967108 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835161 68835161 G C 335853 single nucleotide variant NM_004360.4(CDH1):c.*1662G>C 33967108 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869064 68869064 G C 335854 single nucleotide variant NM_004360.4(CDH1):c.*1693G>T 138279201 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835192 68835192 G T 335854 single nucleotide variant NM_004360.4(CDH1):c.*1693G>T 138279201 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869095 68869095 G T 342198 single nucleotide variant NM_004360.4(CDH1):c.*54C>T 1801026 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833553 68833553 C T 342198 single nucleotide variant NM_004360.4(CDH1):c.*54C>T 1801026 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867456 68867456 C T 342199 single nucleotide variant NM_004360.4(CDH1):c.*192C>T 576309125 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833691 68833691 C T 342199 single nucleotide variant NM_004360.4(CDH1):c.*192C>T 576309125 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867594 68867594 C T 342203 single nucleotide variant NM_004360.4(CDH1):c.*409T>A 778711236 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833908 68833908 T A 342203 single nucleotide variant NM_004360.4(CDH1):c.*409T>A 778711236 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867811 68867811 T A 342205 single nucleotide variant NM_004360.4(CDH1):c.*1076T>C 541517386 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834575 68834575 T C 342205 single nucleotide variant NM_004360.4(CDH1):c.*1076T>C 541517386 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868478 68868478 T C 342207 single nucleotide variant NM_004360.4(CDH1):c.*1120T>C 13689 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868522 68868522 T C 342207 single nucleotide variant NM_004360.4(CDH1):c.*1120T>C 13689 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834619 68834619 T C 342220 single nucleotide variant NM_004360.4(CDH1):c.*1591T>C 886052246 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835090 68835090 T C 342220 single nucleotide variant NM_004360.4(CDH1):c.*1591T>C 886052246 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868993 68868993 T C 343740 single nucleotide variant NM_004360.4(CDH1):c.1936A>G (p.Thr646Ala) 771064558 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68822225 68822225 A G 343740 single nucleotide variant NM_004360.4(CDH1):c.1936A>G (p.Thr646Ala) 771064558 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68856128 68856128 A G 343741 deletion NM_004360.4(CDH1):c.*221delT 886052239 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833720 68833720 T - 343741 deletion NM_004360.4(CDH1):c.*221delT 886052239 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867623 68867623 T - 343744 duplication NM_004360.4(CDH1):c.*221dupT 145920869 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833720 68833720 T TT 343744 duplication NM_004360.4(CDH1):c.*221dupT 145920869 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867623 68867623 T TT 343748 deletion NM_004360.4(CDH1):c.*475delT 886052241 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68833974 68833974 T - 343748 deletion NM_004360.4(CDH1):c.*475delT 886052241 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867877 68867877 T - 343749 single nucleotide variant NM_004360.4(CDH1):c.*575A>C 886052242 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834074 68834074 A C 343749 single nucleotide variant NM_004360.4(CDH1):c.*575A>C 886052242 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68867977 68867977 A C 343750 single nucleotide variant NM_004360.4(CDH1):c.*615G>A 148655354 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834114 68834114 G A 343750 single nucleotide variant NM_004360.4(CDH1):c.*615G>A 148655354 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868017 68868017 G A 343752 single nucleotide variant NM_004360.4(CDH1):c.*621C>T 33956791 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834120 68834120 C T 343752 single nucleotide variant NM_004360.4(CDH1):c.*621C>T 33956791 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868023 68868023 C T 343753 single nucleotide variant NM_004360.4(CDH1):c.*623A>G 142125691 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834122 68834122 A G 343753 single nucleotide variant NM_004360.4(CDH1):c.*623A>G 142125691 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868025 68868025 A G 343754 single nucleotide variant NM_004360.4(CDH1):c.*746C>A 140240766 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834245 68834245 C A 343754 single nucleotide variant NM_004360.4(CDH1):c.*746C>A 140240766 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868148 68868148 C A 343755 single nucleotide variant NM_004360.4(CDH1):c.*1049A>C 886052244 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834548 68834548 A C 343755 single nucleotide variant NM_004360.4(CDH1):c.*1049A>C 886052244 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868451 68868451 A C 343756 single nucleotide variant NM_004360.4(CDH1):c.*1176T>G 9282654 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834675 68834675 T G 343756 single nucleotide variant NM_004360.4(CDH1):c.*1176T>G 9282654 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868578 68868578 T G 343757 single nucleotide variant NM_004360.4(CDH1):c.*1285T>C 369689471 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834784 68834784 T C 343757 single nucleotide variant NM_004360.4(CDH1):c.*1285T>C 369689471 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868687 68868687 T C 343759 single nucleotide variant NM_004360.4(CDH1):c.*1435A>T 886052245 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68834934 68834934 A T 343759 single nucleotide variant NM_004360.4(CDH1):c.*1435A>T 886052245 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68868837 68868837 A T 343762 single nucleotide variant NM_004360.4(CDH1):c.*1691G>T 373181046 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869093 68869093 G T 343762 single nucleotide variant NM_004360.4(CDH1):c.*1691G>T 373181046 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835190 68835190 G T 343763 single nucleotide variant NM_004360.4(CDH1):c.*1835T>C 13339481 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835334 68835334 T C 343763 single nucleotide variant NM_004360.4(CDH1):c.*1835T>C 13339481 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869237 68869237 T C 343767 single nucleotide variant NM_004360.4(CDH1):c.*1872C>T 545034372 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835371 68835371 C T 343767 single nucleotide variant NM_004360.4(CDH1):c.*1872C>T 545034372 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869274 68869274 C T 343769 single nucleotide variant NM_004360.4(CDH1):c.*1873G>A 35779350 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835372 68835372 G A 343769 single nucleotide variant NM_004360.4(CDH1):c.*1873G>A 35779350 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869275 68869275 G A 353351 single nucleotide variant NM_004360.4(CDH1):c.*2047A>G 8045438 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869449 68869449 A G 353351 single nucleotide variant NM_004360.4(CDH1):c.*2047A>G 8045438 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835546 68835546 A G 353352 single nucleotide variant NM_004360.4(CDH1):c.*2050T>A 181705992 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68835549 68835549 T A 353352 single nucleotide variant NM_004360.4(CDH1):c.*2050T>A 181705992 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68869452 68869452 T A 358912 deletion NM_004360.4(CDH1):c.-124-164delT 5030658 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68771031 68771031 T - 358912 deletion NM_004360.4(CDH1):c.-124-164delT 5030658 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68737128 68737128 T - 358913 single nucleotide variant NM_004360.4(CDH1):c.49-16C>G 1057517618 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68772184 68772184 C G 358913 single nucleotide variant NM_004360.4(CDH1):c.49-16C>G 1057517618 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68738281 68738281 C G 358914 deletion NM_004360.4(CDH1):c.687+21delT 1057517616 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68808869 68808869 T - 358914 deletion NM_004360.4(CDH1):c.687+21delT 1057517616 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68842772 68842772 T - 358915 single nucleotide variant NM_004360.4(CDH1):c.832+17G>A 373179391 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68810358 68810358 G A 358915 single nucleotide variant NM_004360.4(CDH1):c.832+17G>A 373179391 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68844261 68844261 G A 358916 single nucleotide variant NM_004360.4(CDH1):c.1009-14C>T 368293695 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68846024 68846024 C T 358916 single nucleotide variant NM_004360.4(CDH1):c.1009-14C>T 368293695 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68812121 68812121 C T 358917 single nucleotide variant NM_004360.4(CDH1):c.2296-1G>A 1057517542 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829653 68829653 G A 358917 single nucleotide variant NM_004360.4(CDH1):c.2296-1G>A 1057517542 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863556 68863556 G A 358918 single nucleotide variant NM_004360.4(CDH1):c.2439+14G>A 752439219 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68829811 68829811 G A 358918 single nucleotide variant NM_004360.4(CDH1):c.2439+14G>A 752439219 MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106 16 68863714 68863714 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 16 68820946 rs9929218 G A rs9929218 1.00E-08 Colorectal cancer HPOID:0100834 DOID:9256 G,A intron GWASdb_trait 16 68820946 rs9929218 G A rs9929218 1.00E-08 Nasopharyngeal carcinoma HPOID:0100630 DOID:9261 G,A intron GWASdb_trait 16 68832943 rs1862748 C T rs1862748 2.60E-06 Colorectal cancer HPOID:0100834 DOID:9256 C intron GWASdb_trait 16 68839263 rs10431923 G T rs10431923 1.47E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 16 68850783 rs3785076 A G rs3785076 3.87E-06 Corneal structure HPOID:0000481 DOID:10124 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000105325.13 FZR1 603619