Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27077 single nucleotide variant NM_001018115.2(FANCD2):c.3707G>A (p.Arg1236His) 121917786 MedGen:C3160738,OMIM:227646 3 10131999 10131999 G A 27077 single nucleotide variant NM_001018115.2(FANCD2):c.3707G>A (p.Arg1236His) 121917786 MedGen:C3160738,OMIM:227646 3 10090315 10090315 G A 27078 insertion FANCD2, 376A-G -1 MedGen:C3160738,OMIM:227646 na -1 -1 na na 27079 single nucleotide variant NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) 121917787 MedGen:C3160738,OMIM:227646 3 10084749 10084749 C T 27079 single nucleotide variant NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) 121917787 MedGen:C3160738,OMIM:227646 3 10043065 10043065 C T 27080 single nucleotide variant NM_001018115.2(FANCD2):c.958C>T (p.Gln320Ter) 121917788 MedGen:C3160738,OMIM:227646 3 10084803 10084803 C T 27080 single nucleotide variant NM_001018115.2(FANCD2):c.958C>T (p.Gln320Ter) 121917788 MedGen:C3160738,OMIM:227646 3 10043119 10043119 C T 27081 deletion FANCD2, EX17 DEL -1 MedGen:C3160738,OMIM:227646 na -1 -1 na na 138049 single nucleotide variant NM_033084.4(FANCD2):c.983G>A (p.Arg328Gln) 35625434 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10084828 10084828 G A 138049 single nucleotide variant NM_033084.4(FANCD2):c.983G>A (p.Arg328Gln) 35625434 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10043144 10043144 G A 138050 single nucleotide variant NM_001018115.2(FANCD2):c.1367T>G (p.Leu456Arg) 35782247 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10089689 10089689 T G 138050 single nucleotide variant NM_001018115.2(FANCD2):c.1367T>G (p.Leu456Arg) 35782247 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10048005 10048005 T G 138051 single nucleotide variant NM_001018115.2(FANCD2):c.1634A>G (p.Asn545Ser) 145522204 MedGen:CN169374 3 10094159 10094159 A G 138051 single nucleotide variant NM_001018115.2(FANCD2):c.1634A>G (p.Asn545Ser) 145522204 MedGen:CN169374 3 10052475 10052475 A G 138052 single nucleotide variant NM_001018115.2(FANCD2):c.1777C>T (p.Pro593Ser) 147523071 MedGen:CN169374 3 10103845 10103845 C T 138052 single nucleotide variant NM_001018115.2(FANCD2):c.1777C>T (p.Pro593Ser) 147523071 MedGen:CN169374 3 10062161 10062161 C T 138053 single nucleotide variant NM_033084.4(FANCD2):c.1868A>C (p.Gln623Pro) 36070315 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10105516 10105516 A C 138053 single nucleotide variant NM_033084.4(FANCD2):c.1868A>C (p.Gln623Pro) 36070315 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10063832 10063832 A C 138054 single nucleotide variant NM_001018115.2(FANCD2):c.2141C>T (p.Pro714Leu) 3864017 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10106532 10106532 C T 138054 single nucleotide variant NM_001018115.2(FANCD2):c.2141C>T (p.Pro714Leu) 3864017 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10064848 10064848 C T 138055 single nucleotide variant NM_001018115.2(FANCD2):c.2555C>T (p.Pro852Leu) 375827113 MedGen:CN169374 3 10114615 10114615 C T 138055 single nucleotide variant NM_001018115.2(FANCD2):c.2555C>T (p.Pro852Leu) 375827113 MedGen:CN169374 3 10072931 10072931 C T 138056 single nucleotide variant NM_001018115.2(FANCD2):c.2567C>G (p.Thr856Ser) 587778329 MedGen:CN169374 3 10114627 10114627 C G 138056 single nucleotide variant NM_001018115.2(FANCD2):c.2567C>G (p.Thr856Ser) 587778329 MedGen:CN169374 3 10072943 10072943 C G 138057 single nucleotide variant NM_033084.4(FANCD2):c.2702G>T (p.Gly901Val) 35495399 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10115033 10115033 G T 138057 single nucleotide variant NM_033084.4(FANCD2):c.2702G>T (p.Gly901Val) 35495399 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10073349 10073349 G T 138058 single nucleotide variant NM_033084.4(FANCD2):c.195G>C (p.Gln65His) 36084488 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10074646 10074646 G C 138058 single nucleotide variant NM_033084.4(FANCD2):c.195G>C (p.Gln65His) 36084488 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10032962 10032962 G C 138059 single nucleotide variant NM_001018115.2(FANCD2):c.2965C>G (p.Pro989Ala) 200568638 MedGen:CN169374 3 10119870 10119870 C G 138059 single nucleotide variant NM_001018115.2(FANCD2):c.2965C>G (p.Pro989Ala) 200568638 MedGen:CN169374 3 10078186 10078186 C G 138060 single nucleotide variant NM_001018115.2(FANCD2):c.2989C>T (p.Arg997Trp) 587778330 MedGen:CN169374 3 10122796 10122796 C T 138060 single nucleotide variant NM_001018115.2(FANCD2):c.2989C>T (p.Arg997Trp) 587778330 MedGen:CN169374 3 10081112 10081112 C T 138061 single nucleotide variant NM_001018115.2(FANCD2):c.2990G>A (p.Arg997Gln) 587778331 MedGen:CN169374 3 10122797 10122797 G A 138061 single nucleotide variant NM_001018115.2(FANCD2):c.2990G>A (p.Arg997Gln) 587778331 MedGen:CN169374 3 10081113 10081113 G A 138063 single nucleotide variant NM_033084.4(FANCD2):c.3446C>T (p.Ala1149Val) 147675860 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10128928 10128928 C T 138063 single nucleotide variant NM_033084.4(FANCD2):c.3446C>T (p.Ala1149Val) 147675860 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10087244 10087244 C T 138066 single nucleotide variant NM_033084.4(FANCD2):c.516A>G (p.Ile172Met) 35173688 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10080987 10080987 A G 138066 single nucleotide variant NM_033084.4(FANCD2):c.516A>G (p.Ile172Met) 35173688 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10039303 10039303 A G 138067 single nucleotide variant NM_033084.4(FANCD2):c.577A>G (p.Thr193Ala) 34936017 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN221809;MedGen:CN169374 3 10081411 10081411 A G 138067 single nucleotide variant NM_033084.4(FANCD2):c.577A>G (p.Thr193Ala) 34936017 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN221809;MedGen:CN169374 3 10039727 10039727 A G 207030 deletion NM_033084.4(FANCD2):c.1947+69del 797045572 MedGen:CN169374 3 10063980 10063980 T - 207030 deletion NM_033084.4(FANCD2):c.1947+69del 797045572 MedGen:CN169374 3 10105664 10105664 T - 207031 single nucleotide variant NM_033084.4(FANCD2):c.2021+31C>T 3864015 MedGen:CN169374 3 10064460 10064460 C T 207031 single nucleotide variant NM_033084.4(FANCD2):c.2021+31C>T 3864015 MedGen:CN169374 3 10106144 10106144 C T 207032 single nucleotide variant NM_033084.4(FANCD2):c.2801C>G (p.Ser934Cys) 200971205 MedGen:CN169374 3 10074615 10074615 C G 207032 single nucleotide variant NM_033084.4(FANCD2):c.2801C>G (p.Ser934Cys) 200971205 MedGen:CN169374 3 10116299 10116299 C G 215264 deletion NM_033084.4(FANCD2):c.1278_1278+3delAGTA 369823368 MedGen:CN169374 3 10088407 10088410 AGTA - 215264 deletion NM_033084.4(FANCD2):c.1278_1278+3delAGTA 369823368 MedGen:CN169374 3 10046723 10046726 AGTA - 215265 single nucleotide variant NM_033084.4(FANCD2):c.2022-5C>T 4019784 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10106408 10106408 C T 215265 single nucleotide variant NM_033084.4(FANCD2):c.2022-5C>T 4019784 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10064724 10064724 C T 226494 deletion NM_033084.4(FANCD2):c.2097_2099delCCT (p.Leu700del) 869312805 MedGen:C3160738,OMIM:227646 3 10106488 10106490 CCT - 226494 deletion NM_033084.4(FANCD2):c.2097_2099delCCT (p.Leu700del) 869312805 MedGen:C3160738,OMIM:227646 3 10064804 10064806 CCT - 239031 single nucleotide variant NM_033084.4(FANCD2):c.311T>C (p.Ile104Thr) 143936557 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10076416 10076416 T C 239031 single nucleotide variant NM_033084.4(FANCD2):c.311T>C (p.Ile104Thr) 143936557 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10034732 10034732 T C 239032 single nucleotide variant NM_033084.4(FANCD2):c.986C>G (p.Ala329Gly) 116736407 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10043147 10043147 C G 239032 single nucleotide variant NM_033084.4(FANCD2):c.986C>G (p.Ala329Gly) 116736407 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10084831 10084831 C G 239033 single nucleotide variant NM_033084.4(FANCD2):c.1156T>G (p.Phe386Val) 149125003 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046601 10046601 T G 239033 single nucleotide variant NM_033084.4(FANCD2):c.1156T>G (p.Phe386Val) 149125003 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088285 10088285 T G 239034 single nucleotide variant NM_033084.4(FANCD2):c.1311G>A (p.Ser437=) 564577177 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10047949 10047949 G A 239034 single nucleotide variant NM_033084.4(FANCD2):c.1311G>A (p.Ser437=) 564577177 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10089633 10089633 G A 239035 single nucleotide variant NM_033084.4(FANCD2):c.1414-9C>T 35557429 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10049365 10049365 C T 239035 single nucleotide variant NM_033084.4(FANCD2):c.1414-9C>T 35557429 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10091049 10091049 C T 239036 single nucleotide variant NM_033084.4(FANCD2):c.1440T>C (p.His480=) 375412395 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10091084 10091084 T C 239036 single nucleotide variant NM_033084.4(FANCD2):c.1440T>C (p.His480=) 375412395 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10049400 10049400 T C 239037 single nucleotide variant NM_033084.4(FANCD2):c.1810G>A (p.Asp604Asn) 145170666 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10103878 10103878 G A 239037 single nucleotide variant NM_033084.4(FANCD2):c.1810G>A (p.Asp604Asn) 145170666 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10062194 10062194 G A 239038 single nucleotide variant NM_033084.4(FANCD2):c.2148C>G (p.Thr716=) 55856815 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10064855 10064855 C G 239038 single nucleotide variant NM_033084.4(FANCD2):c.2148C>G (p.Thr716=) 55856815 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10106539 10106539 C G 239039 single nucleotide variant NM_033084.4(FANCD2):c.2444G>A (p.Arg815Gln) 766567785 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10067267 10067267 G A 239039 single nucleotide variant NM_033084.4(FANCD2):c.2444G>A (p.Arg815Gln) 766567785 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10108951 10108951 G A 239040 single nucleotide variant NM_033084.4(FANCD2):c.2555C>G (p.Pro852Arg) 375827113 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10114615 10114615 C G 239040 single nucleotide variant NM_033084.4(FANCD2):c.2555C>G (p.Pro852Arg) 375827113 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10072931 10072931 C G 239041 single nucleotide variant NM_033084.4(FANCD2):c.2937G>A (p.Met979Ile) 779245007 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10078158 10078158 G A 239041 single nucleotide variant NM_033084.4(FANCD2):c.2937G>A (p.Met979Ile) 779245007 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10119842 10119842 G A 239042 deletion NM_033084.4(FANCD2):c.4303_4310delGAGTCTGG (p.Glu1435Hisfs) 878855172 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140521 10140528 GAGTCTGG - 239042 deletion NM_033084.4(FANCD2):c.4303_4310delGAGTCTGG (p.Glu1435Hisfs) 878855172 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10098837 10098844 GAGTCTGG - 248486 deletion NM_033084.4(FANCD2):c.-33-?_1098+?del -1 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 na -1 -1 na na 250824 single nucleotide variant NM_001018115.2(FANCD2):c.64+12G>C 9833228 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10070417 10070417 G C 250824 single nucleotide variant NM_001018115.2(FANCD2):c.64+12G>C 9833228 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10028733 10028733 G C 250825 single nucleotide variant NM_001018115.2(FANCD2):c.439-16A>G 17032278 MedGen:CN169374 3 10077955 10077955 A G 250825 single nucleotide variant NM_001018115.2(FANCD2):c.439-16A>G 17032278 MedGen:CN169374 3 10036271 10036271 A G 250826 single nucleotide variant NM_001018115.2(FANCD2):c.571-31G>A 35749514 MedGen:CN169374 3 10081374 10081374 G A 250826 single nucleotide variant NM_001018115.2(FANCD2):c.571-31G>A 35749514 MedGen:CN169374 3 10039690 10039690 G A 250827 single nucleotide variant NM_001018115.2(FANCD2):c.695+16G>C 17032283 MedGen:CN169374 3 10081545 10081545 G C 250827 single nucleotide variant NM_001018115.2(FANCD2):c.695+16G>C 17032283 MedGen:CN169374 3 10039861 10039861 G C 250828 single nucleotide variant NM_001018115.2(FANCD2):c.784-19C>T 9879080 MedGen:CN169374 3 10084224 10084224 C T 250828 single nucleotide variant NM_001018115.2(FANCD2):c.784-19C>T 9879080 MedGen:CN169374 3 10042540 10042540 C T 250829 single nucleotide variant NM_001018115.2(FANCD2):c.990-38C>G 9809061 MedGen:CN169374 3 10085130 10085130 C G 250829 single nucleotide variant NM_001018115.2(FANCD2):c.990-38C>G 9809061 MedGen:CN169374 3 10043446 10043446 C G 250830 single nucleotide variant NM_001018115.2(FANCD2):c.1098+27A>G 189978498 MedGen:CN169374 3 10085303 10085303 A G 250830 single nucleotide variant NM_001018115.2(FANCD2):c.1098+27A>G 189978498 MedGen:CN169374 3 10043619 10043619 A G 250831 single nucleotide variant NM_001018115.2(FANCD2):c.1122A>G (p.Val374=) 34046352 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10085536 10085536 A G 250831 single nucleotide variant NM_001018115.2(FANCD2):c.1122A>G (p.Val374=) 34046352 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10043852 10043852 A G 250832 single nucleotide variant NM_001018115.2(FANCD2):c.1336C>G (p.Leu446Val) 34557223 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10047974 10047974 C G 250832 single nucleotide variant NM_001018115.2(FANCD2):c.1336C>G (p.Leu446Val) 34557223 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10089658 10089658 C G 250833 single nucleotide variant NM_001018115.2(FANCD2):c.1413+38A>C 7615646 MedGen:CN169374 3 10089773 10089773 A C 250833 single nucleotide variant NM_001018115.2(FANCD2):c.1413+38A>C 7615646 MedGen:CN169374 3 10048089 10048089 A C 250834 single nucleotide variant NM_001018115.2(FANCD2):c.1414-23T>C 10222446 MedGen:CN169374 3 10091035 10091035 T C 250834 single nucleotide variant NM_001018115.2(FANCD2):c.1414-23T>C 10222446 MedGen:CN169374 3 10049351 10049351 T C 250835 single nucleotide variant NM_001018115.2(FANCD2):c.1414-8C>G 886038373 MedGen:CN169374 3 10049366 10049366 C G 250835 single nucleotide variant NM_001018115.2(FANCD2):c.1414-8C>G 886038373 MedGen:CN169374 3 10091050 10091050 C G 250836 single nucleotide variant NM_001018115.2(FANCD2):c.1509C>T (p.Asn503=) 6785756 MedGen:CN169374 3 10091153 10091153 C T 250836 single nucleotide variant NM_001018115.2(FANCD2):c.1509C>T (p.Asn503=) 6785756 MedGen:CN169374 3 10049469 10049469 C T 250837 single nucleotide variant NM_001018115.2(FANCD2):c.1656+14T>A 200473919 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10052511 10052511 T A 250837 single nucleotide variant NM_001018115.2(FANCD2):c.1656+14T>A 200473919 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10094195 10094195 T A 250838 single nucleotide variant NM_001018115.2(FANCD2):c.2124T>C (p.Phe708=) 9809716 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10064831 10064831 T C 250838 single nucleotide variant NM_001018115.2(FANCD2):c.2124T>C (p.Phe708=) 9809716 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10106515 10106515 T C 250839 single nucleotide variant NM_001018115.2(FANCD2):c.2269+37A>G 34323624 MedGen:CN169374 3 10107215 10107215 A G 250839 single nucleotide variant NM_001018115.2(FANCD2):c.2269+37A>G 34323624 MedGen:CN169374 3 10065531 10065531 A G 250840 single nucleotide variant NM_001018115.2(FANCD2):c.2270-28G>T 34608006 MedGen:CN169374 3 10065836 10065836 G T 250840 single nucleotide variant NM_001018115.2(FANCD2):c.2270-28G>T 34608006 MedGen:CN169374 3 10107520 10107520 G T 250841 single nucleotide variant NM_001018115.2(FANCD2):c.2712C>T (p.Asn904=) 35594075 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10115043 10115043 C T 250841 single nucleotide variant NM_001018115.2(FANCD2):c.2712C>T (p.Asn904=) 35594075 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10073359 10073359 C T 250842 single nucleotide variant NM_001018115.2(FANCD2):c.2877A>G (p.Gln959=) 145953386 MedGen:CN169374 3 10078098 10078098 A G 250842 single nucleotide variant NM_001018115.2(FANCD2):c.2877A>G (p.Gln959=) 145953386 MedGen:CN169374 3 10119782 10119782 A G 250843 single nucleotide variant NM_001018115.2(FANCD2):c.2976+36T>C 6805869 MedGen:CN169374 3 10078233 10078233 T C 250843 single nucleotide variant NM_001018115.2(FANCD2):c.2976+36T>C 6805869 MedGen:CN169374 3 10119917 10119917 T C 250844 duplication NM_001018115.2(FANCD2):c.3560+42dupT 886038374 MedGen:CN169374 3 10088584 10088584 T TT 250844 duplication NM_001018115.2(FANCD2):c.3560+42dupT 886038374 MedGen:CN169374 3 10130268 10130268 T TT 250845 single nucleotide variant NM_001018115.2(FANCD2):c.3849+13A>G 9811771 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10092265 10092265 A G 250845 single nucleotide variant NM_001018115.2(FANCD2):c.3849+13A>G 9811771 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10133949 10133949 A G 250846 single nucleotide variant NM_001018115.2(FANCD2):c.3850-17G>T 369702202 MedGen:CN169374 3 10134952 10134952 G T 250846 single nucleotide variant NM_001018115.2(FANCD2):c.3850-17G>T 369702202 MedGen:CN169374 3 10093268 10093268 G T 250847 single nucleotide variant NM_001018115.2(FANCD2):c.4098T>G (p.Leu1366=) 2272125 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10096385 10096385 T G 250847 single nucleotide variant NM_001018115.2(FANCD2):c.4098T>G (p.Leu1366=) 2272125 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN169374 3 10138069 10138069 T G 250848 single nucleotide variant NM_001018115.2(FANCD2):c.4185+33T>C 2272124 MedGen:CN169374 3 10096505 10096505 T C 250848 single nucleotide variant NM_001018115.2(FANCD2):c.4185+33T>C 2272124 MedGen:CN169374 3 10138189 10138189 T C 250849 single nucleotide variant NM_001018115.2(FANCD2):c.*3C>T 3172417 MedGen:CN169374 3 10142949 10142949 C T 250849 single nucleotide variant NM_001018115.2(FANCD2):c.*3C>T 3172417 MedGen:CN169374 3 10101265 10101265 C T 259748 single nucleotide variant NM_033084.4(FANCD2):c.2605+1G>A 142365855 MedGen:CN221809 3 10114666 10114666 G A 259748 single nucleotide variant NM_033084.4(FANCD2):c.2605+1G>A 142365855 MedGen:CN221809 3 10072982 10072982 G A 287798 deletion NM_033084.4(FANCD2):c.378-6_378-5delTT 55973240 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN221809 3 10035167 10035168 TT - 287798 deletion NM_033084.4(FANCD2):c.378-6_378-5delTT 55973240 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625;MedGen:CN221809 3 10076851 10076852 TT - 287808 single nucleotide variant NM_033084.4(FANCD2):c.1134+8T>G 373232961 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10085556 10085556 T G 287808 single nucleotide variant NM_033084.4(FANCD2):c.1134+8T>G 373232961 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10043872 10043872 T G 287811 single nucleotide variant NM_033084.4(FANCD2):c.1401G>A (p.Thr467=) 12330369 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10089723 10089723 G A 287811 single nucleotide variant NM_033084.4(FANCD2):c.1401G>A (p.Thr467=) 12330369 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10048039 10048039 G A 287815 single nucleotide variant NM_033084.4(FANCD2):c.1546-8T>C 530202330 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10094063 10094063 T C 287815 single nucleotide variant NM_033084.4(FANCD2):c.1546-8T>C 530202330 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10052379 10052379 T C 287822 single nucleotide variant NM_033084.4(FANCD2):c.1874C>T (p.Pro625Leu) 886057690 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10105522 10105522 C T 287822 single nucleotide variant NM_033084.4(FANCD2):c.1874C>T (p.Pro625Leu) 886057690 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10063838 10063838 C T 287823 single nucleotide variant NM_033084.4(FANCD2):c.2067C>T (p.Tyr689=) 763189891 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10106458 10106458 C T 287823 single nucleotide variant NM_033084.4(FANCD2):c.2067C>T (p.Tyr689=) 763189891 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10064774 10064774 C T 287834 single nucleotide variant NM_033084.4(FANCD2):c.2480A>C (p.Glu827Ala) 145099733 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10067303 10067303 A C 287834 single nucleotide variant NM_033084.4(FANCD2):c.2480A>C (p.Glu827Ala) 145099733 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10108987 10108987 A C 287837 single nucleotide variant NM_033084.4(FANCD2):c.2613A>C (p.Lys871Asn) 56041034 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10073260 10073260 A C 287837 single nucleotide variant NM_033084.4(FANCD2):c.2613A>C (p.Lys871Asn) 56041034 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10114944 10114944 A C 287839 single nucleotide variant NM_033084.4(FANCD2):c.4186-13C>T 755767180 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10098707 10098707 C T 287839 single nucleotide variant NM_033084.4(FANCD2):c.4186-13C>T 755767180 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140391 10140391 C T 287840 deletion NM_033084.4(FANCD2):c.4234_4239delAGTGAG (p.Ser1412_Glu1413del) 886057693 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10098768 10098773 AGTGAG - 287840 deletion NM_033084.4(FANCD2):c.4234_4239delAGTGAG (p.Ser1412_Glu1413del) 886057693 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140452 10140457 AGTGAG - 287841 single nucleotide variant NM_033084.4(FANCD2):c.*122C>T 886057694 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099072 10099072 C T 287841 single nucleotide variant NM_033084.4(FANCD2):c.*122C>T 886057694 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140756 10140756 C T 287845 single nucleotide variant NM_033084.4(FANCD2):c.*462C>T 548255173 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099412 10099412 C T 287845 single nucleotide variant NM_033084.4(FANCD2):c.*462C>T 548255173 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141096 10141096 C T 288498 single nucleotide variant NM_033084.4(FANCD2):c.1137G>T (p.Val379=) 72492997 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088266 10088266 G T 288498 single nucleotide variant NM_033084.4(FANCD2):c.1137G>T (p.Val379=) 72492997 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046582 10046582 G T 288502 single nucleotide variant NM_033084.4(FANCD2):c.1413+14T>C 12330599 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10089749 10089749 T C 288502 single nucleotide variant NM_033084.4(FANCD2):c.1413+14T>C 12330599 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10048065 10048065 T C 288503 single nucleotide variant NM_033084.4(FANCD2):c.2181G>A (p.Pro727=) 560600678 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10065406 10065406 G A 288503 single nucleotide variant NM_033084.4(FANCD2):c.2181G>A (p.Pro727=) 560600678 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10107090 10107090 G A 288504 single nucleotide variant NM_033084.4(FANCD2):c.3105+15C>T 460965 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10081243 10081243 C T 288504 single nucleotide variant NM_033084.4(FANCD2):c.3105+15C>T 460965 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10122927 10122927 C T 288506 single nucleotide variant NM_033084.4(FANCD2):c.3646A>G (p.Lys1216Glu) 367552677 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088913 10088913 A G 288506 single nucleotide variant NM_033084.4(FANCD2):c.3646A>G (p.Lys1216Glu) 367552677 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10130597 10130597 A G 288508 single nucleotide variant NM_033084.4(FANCD2):c.4186-5T>C 763801603 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10098715 10098715 T C 288508 single nucleotide variant NM_033084.4(FANCD2):c.4186-5T>C 763801603 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140399 10140399 T C 288509 single nucleotide variant NM_033084.4(FANCD2):c.*44C>T 370459744 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10098994 10098994 C T 288509 single nucleotide variant NM_033084.4(FANCD2):c.*44C>T 370459744 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140678 10140678 C T 288510 single nucleotide variant NM_033084.4(FANCD2):c.*135A>G 17032386 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140769 10140769 A G 288510 single nucleotide variant NM_033084.4(FANCD2):c.*135A>G 17032386 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099085 10099085 A G 288512 single nucleotide variant NM_033084.4(FANCD2):c.*431T>G 3826 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099381 10099381 T G 288512 single nucleotide variant NM_033084.4(FANCD2):c.*431T>G 3826 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141065 10141065 T G 288515 single nucleotide variant NM_033084.4(FANCD2):c.*688A>G 886057697 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141322 10141322 A G 288515 single nucleotide variant NM_033084.4(FANCD2):c.*688A>G 886057697 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099638 10099638 A G 291416 single nucleotide variant NM_033084.4(FANCD2):c.-33-13G>A 113338938 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10028612 10028612 G A 291416 single nucleotide variant NM_033084.4(FANCD2):c.-33-13G>A 113338938 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10070296 10070296 G A 291421 single nucleotide variant NM_033084.4(FANCD2):c.382G>T (p.Gly128Cys) 772201181 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10035177 10035177 G T 291421 single nucleotide variant NM_033084.4(FANCD2):c.382G>T (p.Gly128Cys) 772201181 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10076861 10076861 G T 291422 single nucleotide variant NM_033084.4(FANCD2):c.491+10G>A 17032279 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10036349 10036349 G A 291422 single nucleotide variant NM_033084.4(FANCD2):c.491+10G>A 17032279 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10078033 10078033 G A 291427 single nucleotide variant NM_033084.4(FANCD2):c.1214A>G (p.Asn405Ser) 73126218 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088343 10088343 A G 291427 single nucleotide variant NM_033084.4(FANCD2):c.1214A>G (p.Asn405Ser) 73126218 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046659 10046659 A G 291434 single nucleotide variant NM_033084.4(FANCD2):c.1232G>T (p.Cys411Phe) 886057663 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088361 10088361 G T 291434 single nucleotide variant NM_033084.4(FANCD2):c.1232G>T (p.Cys411Phe) 886057663 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046677 10046677 G T 291439 single nucleotide variant NM_033084.4(FANCD2):c.1545+9T>C 769459614 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10091198 10091198 T C 291439 single nucleotide variant NM_033084.4(FANCD2):c.1545+9T>C 769459614 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10049514 10049514 T C 291440 single nucleotide variant NM_033084.4(FANCD2):c.1948-7C>T 757782326 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10106033 10106033 C T 291440 single nucleotide variant NM_033084.4(FANCD2):c.1948-7C>T 757782326 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10064349 10064349 C T 291441 single nucleotide variant NM_033084.4(FANCD2):c.2469A>G (p.Gln823=) 574054963 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10067292 10067292 A G 291441 single nucleotide variant NM_033084.4(FANCD2):c.2469A>G (p.Gln823=) 574054963 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10108976 10108976 A G 291450 single nucleotide variant NM_033084.4(FANCD2):c.2826G>A (p.Thr942=) 200118565 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10074640 10074640 G A 291450 single nucleotide variant NM_033084.4(FANCD2):c.2826G>A (p.Thr942=) 200118565 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10116324 10116324 G A 291451 single nucleotide variant NM_033084.4(FANCD2):c.2826G>C (p.Thr942=) 200118565 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10074640 10074640 G C 291451 single nucleotide variant NM_033084.4(FANCD2):c.2826G>C (p.Thr942=) 200118565 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10116324 10116324 G C 291452 single nucleotide variant NM_033084.4(FANCD2):c.*390A>G 886057695 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099340 10099340 A G 291452 single nucleotide variant NM_033084.4(FANCD2):c.*390A>G 886057695 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141024 10141024 A G 291456 single nucleotide variant NM_033084.4(FANCD2):c.*399G>A 886057696 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099349 10099349 G A 291456 single nucleotide variant NM_033084.4(FANCD2):c.*399G>A 886057696 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141033 10141033 G A 291526 single nucleotide variant NM_033084.4(FANCD2):c.-6G>C 3732974 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10028652 10028652 G C 291526 single nucleotide variant NM_033084.4(FANCD2):c.-6G>C 3732974 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10070336 10070336 G C 291533 single nucleotide variant NM_033084.4(FANCD2):c.33G>A (p.Glu11=) 147426418 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10028690 10028690 G A 291533 single nucleotide variant NM_033084.4(FANCD2):c.33G>A (p.Glu11=) 147426418 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10070374 10070374 G A 291534 single nucleotide variant NM_033084.4(FANCD2):c.1116C>T (p.Ala372=) 370078641 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10085530 10085530 C T 291534 single nucleotide variant NM_033084.4(FANCD2):c.1116C>T (p.Ala372=) 370078641 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10043846 10043846 C T 291535 single nucleotide variant NM_033084.4(FANCD2):c.1170C>T (p.Ser390=) 112887807 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088299 10088299 C T 291535 single nucleotide variant NM_033084.4(FANCD2):c.1170C>T (p.Ser390=) 112887807 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046615 10046615 C T 291537 single nucleotide variant NM_033084.4(FANCD2):c.1179T>C (p.Thr393=) 72492998 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088308 10088308 T C 291537 single nucleotide variant NM_033084.4(FANCD2):c.1179T>C (p.Thr393=) 72492998 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046624 10046624 T C 291541 single nucleotide variant NM_033084.4(FANCD2):c.1265C>G (p.Ser422Cys) 765378218 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10088394 10088394 C G 291541 single nucleotide variant NM_033084.4(FANCD2):c.1265C>G (p.Ser422Cys) 765378218 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10046710 10046710 C G 291542 single nucleotide variant NM_033084.4(FANCD2):c.1400C>T (p.Thr467Met) 760246372 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10089722 10089722 C T 291542 single nucleotide variant NM_033084.4(FANCD2):c.1400C>T (p.Thr467Met) 760246372 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10048038 10048038 C T 291549 single nucleotide variant NM_033084.4(FANCD2):c.1413+3A>G 62245508 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10089738 10089738 A G 291549 single nucleotide variant NM_033084.4(FANCD2):c.1413+3A>G 62245508 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10048054 10048054 A G 291552 single nucleotide variant NM_033084.4(FANCD2):c.2581A>G (p.Lys861Glu) 886057691 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10072957 10072957 A G 291552 single nucleotide variant NM_033084.4(FANCD2):c.2581A>G (p.Lys861Glu) 886057691 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10114641 10114641 A G 291562 single nucleotide variant NM_033084.4(FANCD2):c.3351C>T (p.Tyr1117=) 566518051 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10087149 10087149 C T 291562 single nucleotide variant NM_033084.4(FANCD2):c.3351C>T (p.Tyr1117=) 566518051 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10128833 10128833 C T 291563 single nucleotide variant NM_033084.4(FANCD2):c.3734C>T (p.Thr1245Met) 764775864 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10090342 10090342 C T 291563 single nucleotide variant NM_033084.4(FANCD2):c.3734C>T (p.Thr1245Met) 764775864 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10132026 10132026 C T 291571 single nucleotide variant NM_033084.4(FANCD2):c.3788A>G (p.Glu1263Gly) 886057692 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10092191 10092191 A G 291571 single nucleotide variant NM_033084.4(FANCD2):c.3788A>G (p.Glu1263Gly) 886057692 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10133875 10133875 A G 291578 single nucleotide variant NM_033084.4(FANCD2):c.*37G>A 7626117 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10098987 10098987 G A 291578 single nucleotide variant NM_033084.4(FANCD2):c.*37G>A 7626117 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140671 10140671 G A 291579 single nucleotide variant NM_033084.4(FANCD2):c.*62A>G 7647987 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099012 10099012 A G 291579 single nucleotide variant NM_033084.4(FANCD2):c.*62A>G 7647987 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140696 10140696 A G 291580 single nucleotide variant NM_033084.4(FANCD2):c.*220A>G 770674504 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099170 10099170 A G 291580 single nucleotide variant NM_033084.4(FANCD2):c.*220A>G 770674504 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10140854 10140854 A G 291587 single nucleotide variant NM_033084.4(FANCD2):c.*408C>T 540249462 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099358 10099358 C T 291587 single nucleotide variant NM_033084.4(FANCD2):c.*408C>T 540249462 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141042 10141042 C T 291588 single nucleotide variant NM_033084.4(FANCD2):c.*427C>A 550613588 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099377 10099377 C A 291588 single nucleotide variant NM_033084.4(FANCD2):c.*427C>A 550613588 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141061 10141061 C A 291596 single nucleotide variant NM_033084.4(FANCD2):c.*538G>A 9862958 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099488 10099488 G A 291596 single nucleotide variant NM_033084.4(FANCD2):c.*538G>A 9862958 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141172 10141172 G A 291624 single nucleotide variant NM_033084.4(FANCD2):c.*550C>T 11716842 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10141184 10141184 C T 291624 single nucleotide variant NM_033084.4(FANCD2):c.*550C>T 11716842 MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:C0015625 3 10099500 10099500 C T

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 3 10068572 rs3846177 G T rs3846177 6.03E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10073311 rs7648104 C A rs7648104 6.41E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 3 10077955 rs17032278 A G rs17032278 6.41E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10078247 rs6442147 A G rs6442147 4.73E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10078816 rs7631678 T G rs7631678 6.61E-06 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 3 10080722 rs7637888 T C rs7637888 6.61E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C,T intron GWASdb_trait 3 10081545 rs17032283 G C rs17032283 7.51E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10083935 rs9875081 G A rs9875081 2.96E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10083935 rs9875081 G A rs9875081 1.03E-05 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10084828 rs35625434 G A rs35625434 0.00036 Prostate cancer HPOID:0012125 DOID:10283 G missense GWASdb_trait 3 10086680 rs17032295 G A rs17032295 1.81E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10086680 rs17032295 G A rs17032295 7.24E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10087638 rs17032299 C T rs17032299 7.03E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 3 10089689 rs35782247 T G rs35782247 2.39E-09 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 T missense GWASdb_trait 3 10089773 rs7615646 A C,G rs7615646 3.18E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10089773 rs7615646 A C,G rs7615646 7.08E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10121922 rs6781811 C T rs6781811 4.62E-06 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 3 10122575 rs6442150 T C rs6442150 5.40E-06 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 3 10124120 rs6789156 G A rs6789156 5.77E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 10124444 rs6791810 C T rs6791810 5.18E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 3 10126312 rs13319597 G T rs13319597 5.42E-06 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 3 10133478 rs34632086 T C rs34632086 3.00E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 NA intron GWASdb_trait 3 10133478 rs34632086 T C rs34632086 1.95E-06 Alzheimer's disease HPOID:0002511 DOID:10652 NA intron GWASdb_trait 3 10133710 rs9849434 G A rs9849434 1.88E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A,G intron GWASdb_trait 3 10133949 rs9811771 A G rs9811771 1.88E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10134766 rs12374115 C T rs12374115 2.22E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 3 10135577 rs1552244 A G rs1552244 4.37E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10135577 rs1552244 A G rs1552244 2.00E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10138069 rs2272125 T G rs2272125 4.44E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C cds-synon GWASdb_trait 3 10138189 rs2272124 T C rs2272124 4.44E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 10140115 rs2272123 G A rs2272123 4.35E-06 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 3 10140671 rs7626117 G A rs7626117 7.17E-05 Alzheimer's disease HPOID:0002511 DOID:10652 A UTR-3 GWASdb_trait 3 10140696 rs7647987 A G rs7647987 4.60E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000144554.10 FANCD2 613984