Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19730 insertion NOD2, 1-BP INS, 3020C -1 - na -1 -1 na na 19731 single nucleotide variant NM_022162.2(NOD2):c.2722G>C (p.Gly908Arg) 2066845 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:CN169374 16 50756540 50756540 G C 19731 single nucleotide variant NM_022162.2(NOD2):c.2722G>C (p.Gly908Arg) 2066845 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:CN169374 16 50722629 50722629 G C 19732 single nucleotide variant NM_022162.2(NOD2):c.2104C>T (p.Arg702Trp) 2066844 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:CN169374 16 50745926 50745926 C T 19732 single nucleotide variant NM_022162.2(NOD2):c.2104C>T (p.Arg702Trp) 2066844 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:CN169374 16 50712015 50712015 C T 19733 single nucleotide variant NM_022162.2(NOD2):c.1001G>A (p.Arg334Gln) 104895461 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50744823 50744823 G A 19733 single nucleotide variant NM_022162.2(NOD2):c.1001G>A (p.Arg334Gln) 104895461 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50710912 50710912 G A 19734 single nucleotide variant NM_022162.2(NOD2):c.1405C>T (p.Leu469Phe) 104895460 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50745227 50745227 C T 19734 single nucleotide variant NM_022162.2(NOD2):c.1405C>T (p.Leu469Phe) 104895460 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50711316 50711316 C T 19735 single nucleotide variant NM_022162.2(NOD2):c.1000C>T (p.Arg334Trp) 104895462 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50744822 50744822 C T 19735 single nucleotide variant NM_022162.2(NOD2):c.1000C>T (p.Arg334Trp) 104895462 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50710911 50710911 C T 19736 single nucleotide variant NM_022162.2(NOD2):c.2798+158C>T 5743289 - 16 50756774 50756774 C T 19736 single nucleotide variant NM_022162.2(NOD2):c.2798+158C>T 5743289 - 16 50722863 50722863 C T 19737 single nucleotide variant NM_022162.2(NOD2):c.1487A>T (p.His496Leu) 104895472 MedGen:C1836122,OMIM:609464 16 50745309 50745309 A T 19737 single nucleotide variant NM_022162.2(NOD2):c.1487A>T (p.His496Leu) 104895472 MedGen:C1836122,OMIM:609464 16 50711398 50711398 A T 19738 single nucleotide variant NM_022162.2(NOD2):c.1146C>G (p.Asp382Glu) 104895476 MedGen:C1836122,OMIM:609464 16 50744968 50744968 C G 19738 single nucleotide variant NM_022162.2(NOD2):c.1146C>G (p.Asp382Glu) 104895476 MedGen:C1836122,OMIM:609464 16 50711057 50711057 C G 19739 single nucleotide variant NM_022162.2(NOD2):c.1834G>A (p.Ala612Thr) 104895438 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50745656 50745656 G A 19739 single nucleotide variant NM_022162.2(NOD2):c.1834G>A (p.Ala612Thr) 104895438 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50711745 50711745 G A 19740 single nucleotide variant NM_022162.2(NOD2):c.1147G>A (p.Glu383Lys) 104895477 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50744969 50744969 G A 19740 single nucleotide variant NM_022162.2(NOD2):c.1147G>A (p.Glu383Lys) 104895477 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464 16 50711058 50711058 G A 39505 duplication NM_022162.2(NOD2):c.3017dupC (p.Leu1007Profs) 2066847 - 16 50763779 50763779 C CC 39505 duplication NM_022162.2(NOD2):c.3017dupC (p.Leu1007Profs) 2066847 - 16 50729868 50729868 C CC 91052 single nucleotide variant NM_022162.2(NOD2):c.1366C>T (p.Leu456=) 104895433 MedGen:C1836122,OMIM:609464 16 50745188 50745188 C T 91052 single nucleotide variant NM_022162.2(NOD2):c.1366C>T (p.Leu456=) 104895433 MedGen:C1836122,OMIM:609464 16 50711277 50711277 C T 91052 single nucleotide variant NM_022162.2(NOD2):c.1366C>T (p.Leu456=) 104895433 MedGen:C1836122,OMIM:609464 16 49302689 49302689 C T 103708 single nucleotide variant NM_022162.2(NOD2):c.*9G>A 104895459 MedGen:C1836122,OMIM:609464 16 50765739 50765739 G A 103708 single nucleotide variant NM_022162.2(NOD2):c.*9G>A 104895459 MedGen:C1836122,OMIM:609464 16 50731828 50731828 G A 103709 single nucleotide variant NM_022162.2(NOD2):c.1042C>G (p.Leu348Val) 104895428 MedGen:C1836122,OMIM:609464 16 50744864 50744864 C G 103709 single nucleotide variant NM_022162.2(NOD2):c.1042C>G (p.Leu348Val) 104895428 MedGen:C1836122,OMIM:609464 16 50710953 50710953 C G 103710 single nucleotide variant NM_022162.2(NOD2):c.1065G>A (p.Trp355Ter) 104895488 MedGen:C1836122,OMIM:609464 16 50744887 50744887 G A 103710 single nucleotide variant NM_022162.2(NOD2):c.1065G>A (p.Trp355Ter) 104895488 MedGen:C1836122,OMIM:609464 16 50710976 50710976 G A 103711 single nucleotide variant NM_022162.2(NOD2):c.1070A>C (p.Asp357Ala) 104895469 MedGen:C1836122,OMIM:609464 16 50744892 50744892 A C 103711 single nucleotide variant NM_022162.2(NOD2):c.1070A>C (p.Asp357Ala) 104895469 MedGen:C1836122,OMIM:609464 16 50710981 50710981 A C 103712 single nucleotide variant NM_022162.2(NOD2):c.1087A>T (p.Ile363Phe) 104895470 MedGen:C1836122,OMIM:609464 16 50744909 50744909 A T 103712 single nucleotide variant NM_022162.2(NOD2):c.1087A>T (p.Ile363Phe) 104895470 MedGen:C1836122,OMIM:609464 16 50710998 50710998 A T 103713 single nucleotide variant NM_022162.2(NOD2):c.113G>T (p.Arg38Met) 104895487 MedGen:C1836122,OMIM:609464 16 50733438 50733438 G T 103713 single nucleotide variant NM_022162.2(NOD2):c.113G>T (p.Arg38Met) 104895487 MedGen:C1836122,OMIM:609464 16 50699527 50699527 G T 103714 single nucleotide variant NM_022162.2(NOD2):c.1148A>G (p.Glu383Gly) 104895493 MedGen:C1836122,OMIM:609464 16 50744970 50744970 A G 103714 single nucleotide variant NM_022162.2(NOD2):c.1148A>G (p.Glu383Gly) 104895493 MedGen:C1836122,OMIM:609464 16 50711059 50711059 A G 103715 single nucleotide variant NM_022162.2(NOD2):c.1171C>T (p.Arg391Cys) 104895481 MedGen:C1836122,OMIM:609464 16 50744993 50744993 C T 103715 single nucleotide variant NM_022162.2(NOD2):c.1171C>T (p.Arg391Cys) 104895481 MedGen:C1836122,OMIM:609464 16 50711082 50711082 C T 103716 single nucleotide variant NM_022162.2(NOD2):c.1241A>G (p.Asn414Ser) 104895429 MedGen:C1836122,OMIM:609464 16 50745063 50745063 A G 103716 single nucleotide variant NM_022162.2(NOD2):c.1241A>G (p.Asn414Ser) 104895429 MedGen:C1836122,OMIM:609464 16 50711152 50711152 A G 103717 single nucleotide variant NM_022162.2(NOD2):c.1281G>A (p.Pro427=) 104895430 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50745103 50745103 G A 103717 single nucleotide variant NM_022162.2(NOD2):c.1281G>A (p.Pro427=) 104895430 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50711192 50711192 G A 103718 single nucleotide variant NM_022162.2(NOD2):c.1292C>T (p.Ser431Leu) 104895431 MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50745114 50745114 C T 103718 single nucleotide variant NM_022162.2(NOD2):c.1292C>T (p.Ser431Leu) 104895431 MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50711203 50711203 C T 103719 single nucleotide variant NM_022162.2(NOD2):c.1321G>A (p.Glu441Lys) 104895432 MedGen:C1836122,OMIM:609464 16 50745143 50745143 G A 103719 single nucleotide variant NM_022162.2(NOD2):c.1321G>A (p.Glu441Lys) 104895432 MedGen:C1836122,OMIM:609464 16 50711232 50711232 G A 103720 single nucleotide variant NM_022162.2(NOD2):c.1387C>G (p.Pro463Ala) 104895482 MedGen:C1836122,OMIM:609464 16 50745209 50745209 C G 103720 single nucleotide variant NM_022162.2(NOD2):c.1387C>G (p.Pro463Ala) 104895482 MedGen:C1836122,OMIM:609464 16 50711298 50711298 C G 103721 single nucleotide variant NM_022162.2(NOD2):c.1390G>T (p.Gly464Trp) 104895492 MedGen:C1836122,OMIM:609464 16 50745212 50745212 G T 103721 single nucleotide variant NM_022162.2(NOD2):c.1390G>T (p.Gly464Trp) 104895492 MedGen:C1836122,OMIM:609464 16 50711301 50711301 G T 103722 single nucleotide variant NM_022162.2(NOD2):c.1442G>A (p.Gly481Asp) 104895494 MedGen:C1836122,OMIM:609464 16 50745264 50745264 G A 103722 single nucleotide variant NM_022162.2(NOD2):c.1442G>A (p.Gly481Asp) 104895494 MedGen:C1836122,OMIM:609464 16 50711353 50711353 G A 103723 single nucleotide variant NM_022162.2(NOD2):c.1469G>T (p.Trp490Leu) 104895480 MedGen:C1836122,OMIM:609464 16 50745291 50745291 G T 103723 single nucleotide variant NM_022162.2(NOD2):c.1469G>T (p.Trp490Leu) 104895480 MedGen:C1836122,OMIM:609464 16 50711380 50711380 G T 103724 single nucleotide variant NM_022162.2(NOD2):c.1484G>A (p.Cys495Tyr) 104895478 MedGen:C1836122,OMIM:609464 16 50745306 50745306 G A 103724 single nucleotide variant NM_022162.2(NOD2):c.1484G>A (p.Cys495Tyr) 104895478 MedGen:C1836122,OMIM:609464 16 50711395 50711395 G A 103725 single nucleotide variant NM_022162.2(NOD2):c.1509G>A (p.Glu503=) 104895434 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50745331 50745331 G A 103725 single nucleotide variant NM_022162.2(NOD2):c.1509G>A (p.Glu503=) 104895434 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50711420 50711420 G A 103726 single nucleotide variant NM_022162.2(NOD2):c.1538T>C (p.Met513Thr) 104895473 MedGen:C1836122,OMIM:609464 16 50745360 50745360 T C 103726 single nucleotide variant NM_022162.2(NOD2):c.1538T>C (p.Met513Thr) 104895473 MedGen:C1836122,OMIM:609464 16 50711449 50711449 T C 103727 single nucleotide variant NM_022162.2(NOD2):c.1581C>G (p.Pro527=) 104895435 MedGen:C1836122,OMIM:609464 16 50745403 50745403 C G 103727 single nucleotide variant NM_022162.2(NOD2):c.1581C>G (p.Pro527=) 104895435 MedGen:C1836122,OMIM:609464 16 50711492 50711492 C G 103728 single nucleotide variant NM_022162.2(NOD2):c.1648C>G (p.Leu550Val) 104895471 MedGen:C1836122,OMIM:609464 16 50745470 50745470 C G 103728 single nucleotide variant NM_022162.2(NOD2):c.1648C>G (p.Leu550Val) 104895471 MedGen:C1836122,OMIM:609464 16 50711559 50711559 C G 103729 deletion NM_022162.2(NOD2):c.1672_1677delCTGGGC (p.Leu558_Gly559del) 104895436 MedGen:C1836122,OMIM:609464 16 50745494 50745499 CTGGGC - 103729 deletion NM_022162.2(NOD2):c.1672_1677delCTGGGC (p.Leu558_Gly559del) 104895436 MedGen:C1836122,OMIM:609464 16 50711583 50711588 CTGGGC - 103730 single nucleotide variant NM_022162.2(NOD2):c.1759C>T (p.Arg587Cys) 104895479 MedGen:C1836122,OMIM:609464 16 50745581 50745581 C T 103730 single nucleotide variant NM_022162.2(NOD2):c.1759C>T (p.Arg587Cys) 104895479 MedGen:C1836122,OMIM:609464 16 50711670 50711670 C T 103731 single nucleotide variant NM_022162.2(NOD2):c.1788G>A (p.Thr596=) 104895437 MedGen:C1836122,OMIM:609464 16 50745610 50745610 G A 103731 single nucleotide variant NM_022162.2(NOD2):c.1788G>A (p.Thr596=) 104895437 MedGen:C1836122,OMIM:609464 16 50711699 50711699 G A 103732 single nucleotide variant NM_022162.2(NOD2):c.1813A>C (p.Thr605Pro) 104895474 MedGen:C1836122,OMIM:609464 16 50745635 50745635 A C 103732 single nucleotide variant NM_022162.2(NOD2):c.1813A>C (p.Thr605Pro) 104895474 MedGen:C1836122,OMIM:609464 16 50711724 50711724 A C 103733 single nucleotide variant NM_022162.2(NOD2):c.1835C>T (p.Ala612Val) 104895439 MedGen:C1836122,OMIM:609464 16 50745657 50745657 C T 103733 single nucleotide variant NM_022162.2(NOD2):c.1835C>T (p.Ala612Val) 104895439 MedGen:C1836122,OMIM:609464 16 50711746 50711746 C T 103734 single nucleotide variant NM_022162.2(NOD2):c.2010C>A (p.Asn670Lys) 104895475 MedGen:C1836122,OMIM:609464 16 50745832 50745832 C A 103734 single nucleotide variant NM_022162.2(NOD2):c.2010C>A (p.Asn670Lys) 104895475 MedGen:C1836122,OMIM:609464 16 50711921 50711921 C A 103735 single nucleotide variant NM_022162.2(NOD2):c.2137C>T (p.Arg713Cys) 104895440 MedGen:C1836122,OMIM:609464 16 50745959 50745959 C T 103735 single nucleotide variant NM_022162.2(NOD2):c.2137C>T (p.Arg713Cys) 104895440 MedGen:C1836122,OMIM:609464 16 50712048 50712048 C T 103736 single nucleotide variant NM_022162.2(NOD2):c.2138G>A (p.Arg713His) 104895483 MedGen:C1836122,OMIM:609464 16 50745960 50745960 G A 103736 single nucleotide variant NM_022162.2(NOD2):c.2138G>A (p.Arg713His) 104895483 MedGen:C1836122,OMIM:609464 16 50712049 50712049 G A 103737 single nucleotide variant NM_022162.2(NOD2):c.2180C>T (p.Pro727Leu) 104895489 MedGen:C1836122,OMIM:609464 16 50746002 50746002 C T 103737 single nucleotide variant NM_022162.2(NOD2):c.2180C>T (p.Pro727Leu) 104895489 MedGen:C1836122,OMIM:609464 16 50712091 50712091 C T 103738 single nucleotide variant NM_022162.2(NOD2):c.2220C>T (p.Ile740=) 104895441 MedGen:C1836122,OMIM:609464 16 50746042 50746042 C T 103738 single nucleotide variant NM_022162.2(NOD2):c.2220C>T (p.Ile740=) 104895441 MedGen:C1836122,OMIM:609464 16 50712131 50712131 C T 103739 single nucleotide variant NM_022162.2(NOD2):c.2273C>T (p.Ala758Val) 104895442 MedGen:C1836122,OMIM:609464 16 50746095 50746095 C T 103739 single nucleotide variant NM_022162.2(NOD2):c.2273C>T (p.Ala758Val) 104895442 MedGen:C1836122,OMIM:609464 16 50712184 50712184 C T 103740 single nucleotide variant NM_022162.2(NOD2):c.2332G>A (p.Glu778Lys) 104895443 MedGen:C1836122,OMIM:609464 16 50746154 50746154 G A 103740 single nucleotide variant NM_022162.2(NOD2):c.2332G>A (p.Glu778Lys) 104895443 MedGen:C1836122,OMIM:609464 16 50712243 50712243 G A 103741 single nucleotide variant NM_022162.2(NOD2):c.2371C>T (p.Arg791Trp) 104895484 MedGen:C1836122,OMIM:609464 16 50746193 50746193 C T 103741 single nucleotide variant NM_022162.2(NOD2):c.2371C>T (p.Arg791Trp) 104895484 MedGen:C1836122,OMIM:609464 16 50712282 50712282 C T 103742 single nucleotide variant NM_022162.2(NOD2):c.2372G>A (p.Arg791Gln) 104895464 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50746194 50746194 G A 103742 single nucleotide variant NM_022162.2(NOD2):c.2372G>A (p.Arg791Gln) 104895464 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50712283 50712283 G A 103743 single nucleotide variant NM_022162.2(NOD2):c.2377G>A (p.Val793Met) 104895444 MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50746199 50746199 G A 103743 single nucleotide variant NM_022162.2(NOD2):c.2377G>A (p.Val793Met) 104895444 MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50712288 50712288 G A 103744 single nucleotide variant NM_022162.2(NOD2):c.2406G>T (p.Val802=) 104895495 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50746228 50746228 G T 103744 single nucleotide variant NM_022162.2(NOD2):c.2406G>T (p.Val802=) 104895495 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50712317 50712317 G T 103745 single nucleotide variant NM_022162.2(NOD2):c.2475C>G (p.Asn825Lys) 104895485 MedGen:C1836122,OMIM:609464 16 50750510 50750510 C G 103745 single nucleotide variant NM_022162.2(NOD2):c.2475C>G (p.Asn825Lys) 104895485 MedGen:C1836122,OMIM:609464 16 50716599 50716599 C G 103746 single nucleotide variant NM_022162.2(NOD2):c.2527G>A (p.Glu843Lys) 104895445 MedGen:C1836122,OMIM:609464 16 50750562 50750562 G A 103746 single nucleotide variant NM_022162.2(NOD2):c.2527G>A (p.Glu843Lys) 104895445 MedGen:C1836122,OMIM:609464 16 50716651 50716651 G A 103747 single nucleotide variant NM_022162.2(NOD2):c.2546C>T (p.Ala849Val) 104895486 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50750581 50750581 C T 103747 single nucleotide variant NM_022162.2(NOD2):c.2546C>T (p.Ala849Val) 104895486 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50716670 50716670 C T 103748 single nucleotide variant NM_022162.2(NOD2):c.2555A>G (p.Asn852Ser) 104895467 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464;MedGen:CN169374 16 50750810 50750810 A G 103748 single nucleotide variant NM_022162.2(NOD2):c.2555A>G (p.Asn852Ser) 104895467 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464;MedGen:CN169374 16 50716899 50716899 A G 103749 single nucleotide variant NM_022162.2(NOD2):c.2558A>G (p.Asn853Ser) 104895446 MedGen:C1836122,OMIM:609464 16 50750813 50750813 A G 103749 single nucleotide variant NM_022162.2(NOD2):c.2558A>G (p.Asn853Ser) 104895446 MedGen:C1836122,OMIM:609464 16 50716902 50716902 A G 103750 single nucleotide variant NM_022162.2(NOD2):c.2587A>G (p.Met863Val) 104895447 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50750842 50750842 A G 103750 single nucleotide variant NM_022162.2(NOD2):c.2587A>G (p.Met863Val) 104895447 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50716931 50716931 A G 103751 single nucleotide variant NM_022162.2(NOD2):c.2619C>T (p.Phe873=) 104895448 MedGen:C1836122,OMIM:609464 16 50750874 50750874 C T 103751 single nucleotide variant NM_022162.2(NOD2):c.2619C>T (p.Phe873=) 104895448 MedGen:C1836122,OMIM:609464 16 50716963 50716963 C T 103752 single nucleotide variant NM_022162.2(NOD2):c.2630+35T>A 104895449 MedGen:C1836122,OMIM:609464 16 50750920 50750920 T A 103752 single nucleotide variant NM_022162.2(NOD2):c.2630+35T>A 104895449 MedGen:C1836122,OMIM:609464 16 50717009 50717009 T A 103753 single nucleotide variant NM_022162.2(NOD2):c.2631-5T>C 104895450 MedGen:C1836122,OMIM:609464 16 50753831 50753831 T C 103753 single nucleotide variant NM_022162.2(NOD2):c.2631-5T>C 104895450 MedGen:C1836122,OMIM:609464 16 50719920 50719920 T C 103754 single nucleotide variant NM_022162.2(NOD2):c.2715-75G>A 104895466 MedGen:C1836122,OMIM:609464 16 50756458 50756458 G A 103754 single nucleotide variant NM_022162.2(NOD2):c.2715-75G>A 104895466 MedGen:C1836122,OMIM:609464 16 50722547 50722547 G A 103755 single nucleotide variant NM_022162.2(NOD2):c.2715-81G>A 104895465 MedGen:C1836122,OMIM:609464 16 50756452 50756452 G A 103755 single nucleotide variant NM_022162.2(NOD2):c.2715-81G>A 104895465 MedGen:C1836122,OMIM:609464 16 50722541 50722541 G A 103756 single nucleotide variant NM_022162.2(NOD2):c.2719T>C (p.Trp907Arg) 104895490 MedGen:C1836122,OMIM:609464 16 50756537 50756537 T C 103756 single nucleotide variant NM_022162.2(NOD2):c.2719T>C (p.Trp907Arg) 104895490 MedGen:C1836122,OMIM:609464 16 50722626 50722626 T C 103757 single nucleotide variant NM_022162.2(NOD2):c.2739C>T (p.Asp913=) 104895451 MedGen:C1836122,OMIM:609464 16 50756557 50756557 C T 103757 single nucleotide variant NM_022162.2(NOD2):c.2739C>T (p.Asp913=) 104895451 MedGen:C1836122,OMIM:609464 16 50722646 50722646 C T 103758 single nucleotide variant NM_022162.2(NOD2):c.2753C>A (p.Ala918Asp) 104895452 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50756571 50756571 C A 103758 single nucleotide variant NM_022162.2(NOD2):c.2753C>A (p.Ala918Asp) 104895452 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50722660 50722660 C A 103759 single nucleotide variant NM_022162.2(NOD2):c.2771G>A (p.Gly924Asp) 104895453 MedGen:C1836122,OMIM:609464 16 50756589 50756589 G A 103759 single nucleotide variant NM_022162.2(NOD2):c.2771G>A (p.Gly924Asp) 104895453 MedGen:C1836122,OMIM:609464 16 50722678 50722678 G A 103760 single nucleotide variant NM_022162.2(NOD2):c.2817T>C (p.Ile939=) 104895454 MedGen:C1836122,OMIM:609464 16 50757230 50757230 T C 103760 single nucleotide variant NM_022162.2(NOD2):c.2817T>C (p.Ile939=) 104895454 MedGen:C1836122,OMIM:609464 16 50723319 50723319 T C 103761 single nucleotide variant NM_022162.2(NOD2):c.2863G>A (p.Val955Ile) 5743291 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50757276 50757276 G A 103761 single nucleotide variant NM_022162.2(NOD2):c.2863G>A (p.Val955Ile) 5743291 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50723365 50723365 G A 103762 single nucleotide variant NM_022162.2(NOD2):c.2914G>A (p.Val972Ile) 104895455 MedGen:C1836122,OMIM:609464 16 50759431 50759431 G A 103762 single nucleotide variant NM_022162.2(NOD2):c.2914G>A (p.Val972Ile) 104895455 MedGen:C1836122,OMIM:609464 16 50725520 50725520 G A 103763 single nucleotide variant NM_022162.2(NOD2):c.2925C>T (p.Leu975=) 104895463 MedGen:C1836122,OMIM:609464 16 50759442 50759442 C T 103763 single nucleotide variant NM_022162.2(NOD2):c.2925C>T (p.Leu975=) 104895463 MedGen:C1836122,OMIM:609464 16 50725531 50725531 C T 103764 single nucleotide variant NM_022162.2(NOD2):c.2933G>A (p.Gly978Glu) 104895457 MedGen:C1836122,OMIM:609464 16 50759450 50759450 G A 103764 single nucleotide variant NM_022162.2(NOD2):c.2933G>A (p.Gly978Glu) 104895457 MedGen:C1836122,OMIM:609464 16 50725539 50725539 G A 103765 single nucleotide variant NM_022162.2(NOD2):c.3051-102C>G 104895458 MedGen:C1836122,OMIM:609464 16 50765556 50765556 C G 103765 single nucleotide variant NM_022162.2(NOD2):c.3051-102C>G 104895458 MedGen:C1836122,OMIM:609464 16 50731645 50731645 C G 103766 single nucleotide variant NM_022162.2(NOD2):c.3055C>T (p.Arg1019Ter) 104895491 MedGen:C1836122,OMIM:609464 16 50765662 50765662 C T 103766 single nucleotide variant NM_022162.2(NOD2):c.3055C>T (p.Arg1019Ter) 104895491 MedGen:C1836122,OMIM:609464 16 50731751 50731751 C T 103767 single nucleotide variant NM_022162.2(NOD2):c.315G>A (p.Ala105=) 104895419 MedGen:C1836122,OMIM:609464 16 50733640 50733640 G A 103767 single nucleotide variant NM_022162.2(NOD2):c.315G>A (p.Ala105=) 104895419 MedGen:C1836122,OMIM:609464 16 50699729 50699729 G A 103768 single nucleotide variant NM_022162.2(NOD2):c.337G>A (p.Asp113Asn) 104895468 MedGen:C1836122,OMIM:609464 16 50733662 50733662 G A 103768 single nucleotide variant NM_022162.2(NOD2):c.337G>A (p.Asp113Asn) 104895468 MedGen:C1836122,OMIM:609464 16 50699751 50699751 G A 103769 single nucleotide variant NM_022162.2(NOD2):c.413G>A (p.Arg138Gln) 104895456 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50733738 50733738 G A 103769 single nucleotide variant NM_022162.2(NOD2):c.413G>A (p.Arg138Gln) 104895456 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50699827 50699827 G A 103770 single nucleotide variant NM_022162.2(NOD2):c.469T>C (p.Trp157Arg) 104895420 MedGen:C1836122,OMIM:609464 16 50733794 50733794 T C 103770 single nucleotide variant NM_022162.2(NOD2):c.469T>C (p.Trp157Arg) 104895420 MedGen:C1836122,OMIM:609464 16 50699883 50699883 T C 103771 single nucleotide variant NM_022162.2(NOD2):c.703C>T (p.Arg235Cys) 104895422 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50744525 50744525 C T 103771 single nucleotide variant NM_022162.2(NOD2):c.703C>T (p.Arg235Cys) 104895422 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50710614 50710614 C T 103772 single nucleotide variant NM_022162.2(NOD2):c.74-7T>A 104895421 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464;MedGen:CN169374 16 50733392 50733392 T A 103772 single nucleotide variant NM_022162.2(NOD2):c.74-7T>A 104895421 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464;MedGen:CN169374 16 50699481 50699481 T A 103773 single nucleotide variant NM_022162.2(NOD2):c.743T>G (p.Leu248Arg) 104895423 MedGen:C1836122,OMIM:609464 16 50744565 50744565 T G 103773 single nucleotide variant NM_022162.2(NOD2):c.743T>G (p.Leu248Arg) 104895423 MedGen:C1836122,OMIM:609464 16 50710654 50710654 T G 103774 single nucleotide variant NM_022162.2(NOD2):c.871G>A (p.Asp291Asn) 104895424 MedGen:C1836122,OMIM:609464 16 50744693 50744693 G A 103774 single nucleotide variant NM_022162.2(NOD2):c.871G>A (p.Asp291Asn) 104895424 MedGen:C1836122,OMIM:609464 16 50710782 50710782 G A 103775 single nucleotide variant NM_022162.2(NOD2):c.881C>G (p.Thr294Ser) 104895425 MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50744703 50744703 C G 103775 single nucleotide variant NM_022162.2(NOD2):c.881C>G (p.Thr294Ser) 104895425 MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464 16 50710792 50710792 C G 103776 single nucleotide variant NM_022162.2(NOD2):c.902C>T (p.Ala301Val) 104895426 MedGen:C1836122,OMIM:609464 16 50744724 50744724 C T 103776 single nucleotide variant NM_022162.2(NOD2):c.902C>T (p.Ala301Val) 104895426 MedGen:C1836122,OMIM:609464 16 50710813 50710813 C T 103777 single nucleotide variant NM_022162.2(NOD2):c.931C>T (p.Arg311Trp) 104895427 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464;MedGen:CN169374 16 50744753 50744753 C T 103777 single nucleotide variant NM_022162.2(NOD2):c.931C>T (p.Arg311Trp) 104895427 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:C1836122,OMIM:609464;MedGen:CN169374 16 50710842 50710842 C T 103794 single nucleotide variant NM_022162.2(NOD2):c.1117C>T (p.Arg373Cys) 145293873 MedGen:C1836122,OMIM:609464 16 50744939 50744939 C T 103794 single nucleotide variant NM_022162.2(NOD2):c.1117C>T (p.Arg373Cys) 145293873 MedGen:C1836122,OMIM:609464 16 50711028 50711028 C T 103795 single nucleotide variant NM_022162.2(NOD2):c.357G>T (p.Leu119=) 672601267 MedGen:C1836122,OMIM:609464 16 50733682 50733682 G T 103795 single nucleotide variant NM_022162.2(NOD2):c.357G>T (p.Leu119=) 672601267 MedGen:C1836122,OMIM:609464 16 50699771 50699771 G T 108704 single nucleotide variant NM_022162.2(NOD2):c.-824A>G 199475906 MedGen:CN221809 16 50730331 50730331 A G 108704 single nucleotide variant NM_022162.2(NOD2):c.-824A>G 199475906 MedGen:CN221809 16 50696420 50696420 A G 108705 single nucleotide variant NM_022162.2(NOD2):c.-375C>A 199475907 MedGen:CN221809 16 50730780 50730780 C A 108705 single nucleotide variant NM_022162.2(NOD2):c.-375C>A 199475907 MedGen:CN221809 16 50696869 50696869 C A 108706 single nucleotide variant NM_022162.2(NOD2):c.-162T>C 199475908 MedGen:CN221809 16 50730993 50730993 T C 108706 single nucleotide variant NM_022162.2(NOD2):c.-162T>C 199475908 MedGen:CN221809 16 50697082 50697082 T C 108707 single nucleotide variant NM_022162.2(NOD2):c.-144C>T 199475909 MedGen:CN221809 16 50731011 50731011 C T 108707 single nucleotide variant NM_022162.2(NOD2):c.-144C>T 199475909 MedGen:CN221809 16 50697100 50697100 C T 108846 single nucleotide variant NM_022162.2(NOD2):c.*192T>C 199475925 MedGen:CN221809 16 50765922 50765922 T C 108846 single nucleotide variant NM_022162.2(NOD2):c.*192T>C 199475925 MedGen:CN221809 16 50732011 50732011 T C 108847 single nucleotide variant NM_022162.2(NOD2):c.*214T>C 199475926 MedGen:CN221809 16 50765944 50765944 T C 108847 single nucleotide variant NM_022162.2(NOD2):c.*214T>C 199475926 MedGen:CN221809 16 50732033 50732033 T C 108848 single nucleotide variant NM_022162.2(NOD2):c.*80T>C 199475924 MedGen:CN221809 16 50765810 50765810 T C 108848 single nucleotide variant NM_022162.2(NOD2):c.*80T>C 199475924 MedGen:CN221809 16 50731899 50731899 T C 108849 single nucleotide variant NM_022162.2(NOD2):c.*8G>A 199475923 MedGen:CN221809 16 50765738 50765738 G A 108849 single nucleotide variant NM_022162.2(NOD2):c.*8G>A 199475923 MedGen:CN221809 16 50731827 50731827 G A 108850 single nucleotide variant NM_022162.2(NOD2):c.-91G>C 199475910 MedGen:CN221809 16 50731064 50731064 G C 108850 single nucleotide variant NM_022162.2(NOD2):c.-91G>C 199475910 MedGen:CN221809 16 50697153 50697153 G C 108851 single nucleotide variant NM_022162.2(NOD2):c.1031C>T (p.Ser344Phe) 199475912 MedGen:CN221809 16 50744853 50744853 C T 108851 single nucleotide variant NM_022162.2(NOD2):c.1031C>T (p.Ser344Phe) 199475912 MedGen:CN221809 16 50710942 50710942 C T 108852 single nucleotide variant NM_022162.2(NOD2):c.1259G>A (p.Arg420His) 199475913 MedGen:CN221809 16 50745081 50745081 G A 108852 single nucleotide variant NM_022162.2(NOD2):c.1259G>A (p.Arg420His) 199475913 MedGen:CN221809 16 50711170 50711170 G A 108853 single nucleotide variant NM_022162.2(NOD2):c.2004G>A (p.Pro668=) 199475914 MedGen:CN221809 16 50745826 50745826 G A 108853 single nucleotide variant NM_022162.2(NOD2):c.2004G>A (p.Pro668=) 199475914 MedGen:CN221809 16 50711915 50711915 G A 108854 single nucleotide variant NM_022162.2(NOD2):c.2262G>A (p.Leu754=) 199475915 MedGen:CN221809 16 50746084 50746084 G A 108854 single nucleotide variant NM_022162.2(NOD2):c.2262G>A (p.Leu754=) 199475915 MedGen:CN221809 16 50712173 50712173 G A 108855 single nucleotide variant NM_022162.2(NOD2):c.2418C>G (p.Gly806=) 199475916 MedGen:CN221809 16 50746240 50746240 C G 108855 single nucleotide variant NM_022162.2(NOD2):c.2418C>G (p.Gly806=) 199475916 MedGen:CN221809 16 50712329 50712329 C G 108856 single nucleotide variant NM_022162.2(NOD2):c.2462+199A>G 199475917 MedGen:CN221809 16 50746483 50746483 A G 108856 single nucleotide variant NM_022162.2(NOD2):c.2462+199A>G 199475917 MedGen:CN221809 16 50712572 50712572 A G 108857 single nucleotide variant NM_022162.2(NOD2):c.2462+218A>G 199475918 MedGen:CN221809 16 50746502 50746502 A G 108857 single nucleotide variant NM_022162.2(NOD2):c.2462+218A>G 199475918 MedGen:CN221809 16 50712591 50712591 A G 108858 single nucleotide variant NM_022162.2(NOD2):c.2546+28G>A 199475919 MedGen:CN221809 16 50750609 50750609 G A 108858 single nucleotide variant NM_022162.2(NOD2):c.2546+28G>A 199475919 MedGen:CN221809 16 50716698 50716698 G A 108859 single nucleotide variant NM_022162.2(NOD2):c.2547-41G>A 199475920 MedGen:CN221809 16 50750761 50750761 G A 108859 single nucleotide variant NM_022162.2(NOD2):c.2547-41G>A 199475920 MedGen:CN221809 16 50716850 50716850 G A 108860 single nucleotide variant NM_022162.2(NOD2):c.2631-316A>G 199475921 MedGen:CN221809 16 50753520 50753520 A G 108860 single nucleotide variant NM_022162.2(NOD2):c.2631-316A>G 199475921 MedGen:CN221809 16 50719609 50719609 A G 108861 single nucleotide variant NM_022162.2(NOD2):c.2798+148A>G 199475922 MedGen:CN221809 16 50756764 50756764 A G 108861 single nucleotide variant NM_022162.2(NOD2):c.2798+148A>G 199475922 MedGen:CN221809 16 50722853 50722853 A G 108862 single nucleotide variant NM_022162.2(NOD2):c.73+151T>C 199475911 MedGen:CN221809 16 50731378 50731378 T C 108862 single nucleotide variant NM_022162.2(NOD2):c.73+151T>C 199475911 MedGen:CN221809 16 50697467 50697467 T C 194494 single nucleotide variant NM_022162.2(NOD2):c.2107C>T (p.Arg703Cys) 5743277 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:CN169374 16 50745929 50745929 C T 194494 single nucleotide variant NM_022162.2(NOD2):c.2107C>T (p.Arg703Cys) 5743277 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071;MedGen:CN169374 16 50712018 50712018 C T 262392 single nucleotide variant NM_022162.2(NOD2):c.2446G>A 886040969 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50746268 50746268 G A 262392 single nucleotide variant NM_022162.2(NOD2):c.2446G>A 886040969 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50712357 50712357 G A 262394 single nucleotide variant NM_022162.2(NOD2):c.2197G>T 746055479 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50712108 50712108 G T 262394 single nucleotide variant NM_022162.2(NOD2):c.2197G>T 746055479 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50746019 50746019 G T 262395 single nucleotide variant NM_022162.2(NOD2):c.241C>G 34936594 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50733566 50733566 C G 262395 single nucleotide variant NM_022162.2(NOD2):c.241C>G 34936594 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50699655 50699655 C G 263761 single nucleotide variant NM_022162.2(NOD2):c.1045C>T (p.Leu349Phe) 752615209 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50710956 50710956 C T 263761 single nucleotide variant NM_022162.2(NOD2):c.1045C>T (p.Leu349Phe) 752615209 MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:C0004943 16 50744867 50744867 C T 325494 single nucleotide variant NM_022162.2(NOD2):c.-59G>A 2076752 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50697185 50697185 G A 325494 single nucleotide variant NM_022162.2(NOD2):c.-59G>A 2076752 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731096 50731096 G A 325497 single nucleotide variant NM_022162.2(NOD2):c.484G>A (p.Val162Ile) 139571975 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50699898 50699898 G A 325497 single nucleotide variant NM_022162.2(NOD2):c.484G>A (p.Val162Ile) 139571975 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733809 50733809 G A 325504 single nucleotide variant NM_022162.2(NOD2):c.633C>T (p.Ala211=) 5743269 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50707947 50707947 C T 325504 single nucleotide variant NM_022162.2(NOD2):c.633C>T (p.Ala211=) 5743269 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50741858 50741858 C T 325505 single nucleotide variant NM_022162.2(NOD2):c.807G>A (p.Pro269=) 369766454 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744629 50744629 G A 325505 single nucleotide variant NM_022162.2(NOD2):c.807G>A (p.Pro269=) 369766454 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710718 50710718 G A 325507 single nucleotide variant NM_022162.2(NOD2):c.1981G>C (p.Ala661Pro) 369957746 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711892 50711892 G C 325507 single nucleotide variant NM_022162.2(NOD2):c.1981G>C (p.Ala661Pro) 369957746 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745803 50745803 G C 325509 single nucleotide variant NM_022162.2(NOD2):c.2489G>A (p.Arg830Gln) 770915641 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50716613 50716613 G A 325509 single nucleotide variant NM_022162.2(NOD2):c.2489G>A (p.Arg830Gln) 770915641 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50750524 50750524 G A 325517 single nucleotide variant NM_022162.2(NOD2):c.*325G>A 886052046 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732144 50732144 G A 325517 single nucleotide variant NM_022162.2(NOD2):c.*325G>A 886052046 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766055 50766055 G A 325518 single nucleotide variant NM_022162.2(NOD2):c.*394C>T 886052048 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766124 50766124 C T 325518 single nucleotide variant NM_022162.2(NOD2):c.*394C>T 886052048 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732213 50732213 C T 325520 single nucleotide variant NM_022162.2(NOD2):c.*397A>C 3135499 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766127 50766127 A C 325520 single nucleotide variant NM_022162.2(NOD2):c.*397A>C 3135499 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732216 50732216 A C 325521 single nucleotide variant NM_022162.2(NOD2):c.*462C>A 562972090 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766192 50766192 C A 325521 single nucleotide variant NM_022162.2(NOD2):c.*462C>A 562972090 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732281 50732281 C A 325522 single nucleotide variant NM_022162.2(NOD2):c.*620G>A 116213743 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766350 50766350 G A 325522 single nucleotide variant NM_022162.2(NOD2):c.*620G>A 116213743 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732439 50732439 G A 335144 single nucleotide variant NM_022162.2(NOD2):c.-53C>T 188341692 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50697191 50697191 C T 335144 single nucleotide variant NM_022162.2(NOD2):c.-53C>T 188341692 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731102 50731102 C T 335145 single nucleotide variant NM_022162.2(NOD2):c.-14C>T 117611225 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50697230 50697230 C T 335145 single nucleotide variant NM_022162.2(NOD2):c.-14C>T 117611225 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731141 50731141 C T 335151 single nucleotide variant NM_022162.2(NOD2):c.52G>A (p.Val18Ile) 886052043 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50697295 50697295 G A 335151 single nucleotide variant NM_022162.2(NOD2):c.52G>A (p.Val18Ile) 886052043 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731206 50731206 G A 335154 single nucleotide variant NM_022162.2(NOD2):c.274G>A (p.Val92Ile) 187264529 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50699688 50699688 G A 335154 single nucleotide variant NM_022162.2(NOD2):c.274G>A (p.Val92Ile) 187264529 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733599 50733599 G A 335158 single nucleotide variant NM_022162.2(NOD2):c.460G>A (p.Asp154Asn) 146054564 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50699874 50699874 G A 335158 single nucleotide variant NM_022162.2(NOD2):c.460G>A (p.Asp154Asn) 146054564 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733785 50733785 G A 335159 single nucleotide variant NM_022162.2(NOD2):c.531G>A (p.Pro177=) 775281342 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50699945 50699945 G A 335159 single nucleotide variant NM_022162.2(NOD2):c.531G>A (p.Pro177=) 775281342 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733856 50733856 G A 335161 single nucleotide variant NM_022162.2(NOD2):c.646+15T>C 765487015 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50707975 50707975 T C 335161 single nucleotide variant NM_022162.2(NOD2):c.646+15T>C 765487015 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50741886 50741886 T C 335167 single nucleotide variant NM_022162.2(NOD2):c.859C>T (p.His287Tyr) 560242309 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744681 50744681 C T 335167 single nucleotide variant NM_022162.2(NOD2):c.859C>T (p.His287Tyr) 560242309 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710770 50710770 C T 335170 single nucleotide variant NM_022162.2(NOD2):c.875C>T (p.Ala292Val) 149338478 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744697 50744697 C T 335170 single nucleotide variant NM_022162.2(NOD2):c.875C>T (p.Ala292Val) 149338478 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710786 50710786 C T 335175 single nucleotide variant NM_022162.2(NOD2):c.1833C>T (p.Ala611=) 61736932 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745655 50745655 C T 335175 single nucleotide variant NM_022162.2(NOD2):c.1833C>T (p.Ala611=) 61736932 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711744 50711744 C T 335176 single nucleotide variant NM_022162.2(NOD2):c.2123G>A (p.Arg708His) 35285618 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712034 50712034 G A 335176 single nucleotide variant NM_022162.2(NOD2):c.2123G>A (p.Arg708His) 35285618 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745945 50745945 G A 335177 single nucleotide variant NM_022162.2(NOD2):c.2147G>A (p.Arg716His) 200035357 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712058 50712058 G A 335177 single nucleotide variant NM_022162.2(NOD2):c.2147G>A (p.Arg716His) 200035357 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745969 50745969 G A 335179 single nucleotide variant NM_022162.2(NOD2):c.2174C>G (p.Ala725Gly) 5743278 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712085 50712085 C G 335179 single nucleotide variant NM_022162.2(NOD2):c.2174C>G (p.Ala725Gly) 5743278 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745996 50745996 C G 335184 single nucleotide variant NM_022162.2(NOD2):c.2264C>T (p.Ala755Val) 61747625 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712175 50712175 C T 335184 single nucleotide variant NM_022162.2(NOD2):c.2264C>T (p.Ala755Val) 61747625 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50746086 50746086 C T 335185 single nucleotide variant NM_022162.2(NOD2):c.2463-9T>A 201759367 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50716578 50716578 T A 335185 single nucleotide variant NM_022162.2(NOD2):c.2463-9T>A 201759367 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50750489 50750489 T A 335187 single nucleotide variant NM_022162.2(NOD2):c.2704C>A (p.Gln902Lys) 201035873 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50719998 50719998 C A 335187 single nucleotide variant NM_022162.2(NOD2):c.2704C>A (p.Gln902Lys) 201035873 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50753909 50753909 C A 335191 duplication NM_022162.2(NOD2):c.3019dupC (p.Leu1007Profs) 5743293 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50729870 50729870 C CC 335191 duplication NM_022162.2(NOD2):c.3019dupC (p.Leu1007Profs) 5743293 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50763781 50763781 C CC 335194 single nucleotide variant NM_022162.2(NOD2):c.*89C>T 184545855 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731908 50731908 C T 335194 single nucleotide variant NM_022162.2(NOD2):c.*89C>T 184545855 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50765819 50765819 C T 335199 duplication NM_022162.2(NOD2):c.*329_*334dupCCCATG 886052047 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732148 50732153 CCCATG CCCATGCCCATG 335199 duplication NM_022162.2(NOD2):c.*329_*334dupCCCATG 886052047 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766059 50766064 CCCATG CCCATGCCCATG 335200 single nucleotide variant NM_022162.2(NOD2):c.*470C>T 770461687 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766200 50766200 C T 335200 single nucleotide variant NM_022162.2(NOD2):c.*470C>T 770461687 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732289 50732289 C T 335201 single nucleotide variant NM_022162.2(NOD2):c.*1156G>A 3135500 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766886 50766886 G A 335201 single nucleotide variant NM_022162.2(NOD2):c.*1156G>A 3135500 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732975 50732975 G A 341611 deletion NM_022162.2(NOD2):c.-96delT 5743265 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50697148 50697148 T - 341611 deletion NM_022162.2(NOD2):c.-96delT 5743265 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731059 50731059 T - 341616 single nucleotide variant NM_022162.2(NOD2):c.534C>G (p.Ser178=) 2067085 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50699948 50699948 C G 341616 single nucleotide variant NM_022162.2(NOD2):c.534C>G (p.Ser178=) 2067085 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733859 50733859 C G 341618 single nucleotide variant NM_022162.2(NOD2):c.566C>T (p.Thr189Met) 61755182 MedGen:CN043071,SNOMED CT:CN043071 16 50741791 50741791 C T 341618 single nucleotide variant NM_022162.2(NOD2):c.566C>T (p.Thr189Met) 61755182 MedGen:CN043071,SNOMED CT:CN043071 16 50707880 50707880 C T 341619 single nucleotide variant NM_022162.2(NOD2):c.734C>T (p.Thr245Met) 148516118 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710645 50710645 C T 341619 single nucleotide variant NM_022162.2(NOD2):c.734C>T (p.Thr245Met) 148516118 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744556 50744556 C T 341620 single nucleotide variant NM_022162.2(NOD2):c.802C>T (p.Pro268Ser) 2066842 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744624 50744624 C T 341620 single nucleotide variant NM_022162.2(NOD2):c.802C>T (p.Pro268Ser) 2066842 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710713 50710713 C T 341623 single nucleotide variant NM_022162.2(NOD2):c.1269G>T (p.Val423=) 77966199 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745091 50745091 G T 341623 single nucleotide variant NM_022162.2(NOD2):c.1269G>T (p.Val423=) 77966199 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711180 50711180 G T 341629 single nucleotide variant NM_022162.2(NOD2):c.1377C>T (p.Arg459=) 2066843 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745199 50745199 C T 341629 single nucleotide variant NM_022162.2(NOD2):c.1377C>T (p.Arg459=) 2066843 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711288 50711288 C T 341630 single nucleotide variant NM_022162.2(NOD2):c.1634C>T (p.Pro545Leu) 777949388 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745456 50745456 C T 341630 single nucleotide variant NM_022162.2(NOD2):c.1634C>T (p.Pro545Leu) 777949388 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711545 50711545 C T 341631 single nucleotide variant NM_022162.2(NOD2):c.1689C>T (p.Tyr563=) 111608429 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745511 50745511 C T 341631 single nucleotide variant NM_022162.2(NOD2):c.1689C>T (p.Tyr563=) 111608429 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711600 50711600 C T 341634 single nucleotide variant NM_022162.2(NOD2):c.1761T>G (p.Arg587=) 1861759 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745583 50745583 T G 341634 single nucleotide variant NM_022162.2(NOD2):c.1761T>G (p.Arg587=) 1861759 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711672 50711672 T G 341640 single nucleotide variant NM_022162.2(NOD2):c.1839C>T (p.Phe613=) 149870902 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745661 50745661 C T 341640 single nucleotide variant NM_022162.2(NOD2):c.1839C>T (p.Phe613=) 149870902 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711750 50711750 C T 341642 single nucleotide variant NM_022162.2(NOD2):c.1856C>T (p.Ala619Val) 867131858 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711767 50711767 C T 341642 single nucleotide variant NM_022162.2(NOD2):c.1856C>T (p.Ala619Val) 867131858 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745678 50745678 C T 341646 single nucleotide variant NM_022162.2(NOD2):c.2003C>T (p.Pro668Leu) 5743275 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711914 50711914 C T 341646 single nucleotide variant NM_022162.2(NOD2):c.2003C>T (p.Pro668Leu) 5743275 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745825 50745825 C T 341657 single nucleotide variant NM_022162.2(NOD2):c.2046G>T (p.Leu682Phe) 149002807 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711957 50711957 G T 341657 single nucleotide variant NM_022162.2(NOD2):c.2046G>T (p.Leu682Phe) 149002807 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745868 50745868 G T 341658 single nucleotide variant NM_022162.2(NOD2):c.3094G>A (p.Gly1032Ser) 147874812 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731790 50731790 G A 341658 single nucleotide variant NM_022162.2(NOD2):c.3094G>A (p.Gly1032Ser) 147874812 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50765701 50765701 G A 341660 single nucleotide variant NM_022162.2(NOD2):c.*382C>T 535063121 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766112 50766112 C T 341660 single nucleotide variant NM_022162.2(NOD2):c.*382C>T 535063121 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732201 50732201 C T 341661 single nucleotide variant NM_022162.2(NOD2):c.*1023C>T 5743299 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766753 50766753 C T 341661 single nucleotide variant NM_022162.2(NOD2):c.*1023C>T 5743299 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732842 50732842 C T 341664 single nucleotide variant NM_022162.2(NOD2):c.*1201T>A 751525993 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766931 50766931 T A 341664 single nucleotide variant NM_022162.2(NOD2):c.*1201T>A 751525993 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733020 50733020 T A 343077 single nucleotide variant NM_022162.2(NOD2):c.-58T>C 139485985 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50697186 50697186 T C 343077 single nucleotide variant NM_022162.2(NOD2):c.-58T>C 139485985 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50731097 50731097 T C 343081 single nucleotide variant NM_022162.2(NOD2):c.140C>T (p.Ser47Leu) 201586544 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50733465 50733465 C T 343081 single nucleotide variant NM_022162.2(NOD2):c.140C>T (p.Ser47Leu) 201586544 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50699554 50699554 C T 343083 single nucleotide variant NM_022162.2(NOD2):c.541-3T>C 141833420 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50707852 50707852 T C 343083 single nucleotide variant NM_022162.2(NOD2):c.541-3T>C 141833420 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50741763 50741763 T C 343085 single nucleotide variant NM_022162.2(NOD2):c.828G>A (p.Leu276=) 763504952 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744650 50744650 G A 343085 single nucleotide variant NM_022162.2(NOD2):c.828G>A (p.Leu276=) 763504952 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710739 50710739 G A 343091 single nucleotide variant NM_022162.2(NOD2):c.841C>T (p.Leu281Phe) 756943416 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744663 50744663 C T 343091 single nucleotide variant NM_022162.2(NOD2):c.841C>T (p.Leu281Phe) 756943416 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50710752 50710752 C T 343092 single nucleotide variant NM_022162.2(NOD2):c.866A>G (p.Asn289Ser) 5743271 MedGen:CN043071,SNOMED CT:CN043071 16 50744688 50744688 A G 343092 single nucleotide variant NM_022162.2(NOD2):c.866A>G (p.Asn289Ser) 5743271 MedGen:CN043071,SNOMED CT:CN043071 16 50710777 50710777 A G 343094 single nucleotide variant NM_022162.2(NOD2):c.1172G>A (p.Arg391His) 554887705 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50744994 50744994 G A 343094 single nucleotide variant NM_022162.2(NOD2):c.1172G>A (p.Arg391His) 554887705 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711083 50711083 G A 343096 single nucleotide variant NM_022162.2(NOD2):c.1316G>A (p.Arg439His) 143110172 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745138 50745138 G A 343096 single nucleotide variant NM_022162.2(NOD2):c.1316G>A (p.Arg439His) 143110172 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711227 50711227 G A 343097 single nucleotide variant NM_022162.2(NOD2):c.1411C>T (p.Arg471Cys) 1078327 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745233 50745233 C T 343097 single nucleotide variant NM_022162.2(NOD2):c.1411C>T (p.Arg471Cys) 1078327 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711322 50711322 C T 343098 single nucleotide variant NM_022162.2(NOD2):c.1603C>T (p.Leu535=) 145190613 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711514 50711514 C T 343098 single nucleotide variant NM_022162.2(NOD2):c.1603C>T (p.Leu535=) 145190613 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745425 50745425 C T 343103 single nucleotide variant NM_022162.2(NOD2):c.1834G>T (p.Ala612Ser) 104895438 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745656 50745656 G T 343103 single nucleotide variant NM_022162.2(NOD2):c.1834G>T (p.Ala612Ser) 104895438 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711745 50711745 G T 343104 single nucleotide variant NM_022162.2(NOD2):c.2050C>T (p.Arg684Trp) 5743276 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50711961 50711961 C T 343104 single nucleotide variant NM_022162.2(NOD2):c.2050C>T (p.Arg684Trp) 5743276 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50745872 50745872 C T 343107 single nucleotide variant NM_022162.2(NOD2):c.2330C>A (p.Thr777Asn) 756184386 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712241 50712241 C A 343107 single nucleotide variant NM_022162.2(NOD2):c.2330C>A (p.Thr777Asn) 756184386 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50746152 50746152 C A 343115 single nucleotide variant NM_022162.2(NOD2):c.2365C>T (p.Leu789Phe) 773758818 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712276 50712276 C T 343115 single nucleotide variant NM_022162.2(NOD2):c.2365C>T (p.Leu789Phe) 773758818 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50746187 50746187 C T 343117 single nucleotide variant NM_022162.2(NOD2):c.2462+10A>C 72796353 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50712383 50712383 A C 343117 single nucleotide variant NM_022162.2(NOD2):c.2462+10A>C 72796353 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50746294 50746294 A C 343118 single nucleotide variant NM_022162.2(NOD2):c.2494A>G (p.Ile832Val) 765335094 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50716618 50716618 A G 343118 single nucleotide variant NM_022162.2(NOD2):c.2494A>G (p.Ile832Val) 765335094 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50750529 50750529 A G 343120 single nucleotide variant NM_022162.2(NOD2):c.2547-11G>T 5743285 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50716880 50716880 G T 343120 single nucleotide variant NM_022162.2(NOD2):c.2547-11G>T 5743285 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50750791 50750791 G T 343121 single nucleotide variant NM_022162.2(NOD2):c.2632C>T (p.Leu878=) 886052044 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50719926 50719926 C T 343121 single nucleotide variant NM_022162.2(NOD2):c.2632C>T (p.Leu878=) 886052044 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50753837 50753837 C T 343126 single nucleotide variant NM_022162.2(NOD2):c.2712G>A (p.Leu904=) 142559533 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50720006 50720006 G A 343126 single nucleotide variant NM_022162.2(NOD2):c.2712G>A (p.Leu904=) 142559533 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50753917 50753917 G A 343129 single nucleotide variant NM_022162.2(NOD2):c.2740G>A (p.Glu914Lys) 758913334 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50722647 50722647 G A 343129 single nucleotide variant NM_022162.2(NOD2):c.2740G>A (p.Glu914Lys) 758913334 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50756558 50756558 G A 343136 single nucleotide variant NM_022162.2(NOD2):c.*186C>G 886052045 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732005 50732005 C G 343136 single nucleotide variant NM_022162.2(NOD2):c.*186C>G 886052045 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50765916 50765916 C G 343140 single nucleotide variant NM_022162.2(NOD2):c.*422C>G 886052049 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766152 50766152 C G 343140 single nucleotide variant NM_022162.2(NOD2):c.*422C>G 886052049 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732241 50732241 C G 343142 single nucleotide variant NM_022162.2(NOD2):c.*521C>T 5743297 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766251 50766251 C T 343142 single nucleotide variant NM_022162.2(NOD2):c.*521C>T 5743297 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732340 50732340 C T 343143 single nucleotide variant NM_022162.2(NOD2):c.*873C>T 373812846 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766603 50766603 C T 343143 single nucleotide variant NM_022162.2(NOD2):c.*873C>T 373812846 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732692 50732692 C T 343144 single nucleotide variant NM_022162.2(NOD2):c.*877C>A 140643942 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766607 50766607 C A 343144 single nucleotide variant NM_022162.2(NOD2):c.*877C>A 140643942 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732696 50732696 C A 343145 single nucleotide variant NM_022162.2(NOD2):c.*990T>C 192842874 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50766720 50766720 T C 343145 single nucleotide variant NM_022162.2(NOD2):c.*990T>C 192842874 MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:CN043071,SNOMED CT:CN043071 16 50732809 50732809 T C

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 50730446 rs4785224 G A rs4785224 1.01E-06 Crohn's disease HPOID:0100280 DOID:8778 G nearGene-5 GWASdb_trait 16 50733374 rs2076753 G T rs2076753 8.63E-23 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 16 50733969 rs2111235 A G rs2111235 4.16E-06 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50737980 rs8057341 A G rs8057341 2.14E-09 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 16 50737980 rs8057341 A G rs8057341 5.53E-05 Leprosy HPOID:0002955 DOID:1024 G intron GWASdb_trait 16 50739582 rs17221417 C G rs17221417 4.00E-11 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50739582 rs17221417 C G rs17221417 4.11E-25 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50741462 rs17312836 A C rs17312836 8.90E-07 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 16 50741462 rs17312836 A C rs17312836 4.00E-07 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50743331 rs11647841 G A rs11647841 1.55E-06 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 16 50744624 rs2066842 C T rs2066842 3.49E-07 Crohn's disease HPOID:0100280 DOID:8778 C missense GWASdb_trait 16 50745199 rs2066843 C T rs2066843 2.86E-09 Crohn's disease HPOID:0100280 DOID:8778 C cds-synon GWASdb_trait 16 50745199 rs2066843 C T rs2066843 8.00E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C cds-synon GWASdb_trait 16 50745199 rs2066843 C T rs2066843 1.16E-12 Multiple complex diseases HPOID:0000118 NA C cds-synon GWASdb_trait 16 50745583 rs1861759 T G rs1861759 7.62E-07 Multiple complex diseases HPOID:0000118 NA A cds-synon GWASdb_trait 16 50745926 rs2066844 C T rs2066844 1.29E-18 Crohn's disease HPOID:0100280 DOID:8778 C missense GWASdb_trait 16 50745926 rs2066844 C T rs2066844 2.61E-10 Crohn's disease HPOID:0100280 DOID:8778 C missense GWASdb_trait 16 50747704 rs17313265 C T rs17313265 7.31E-29 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50751175 rs751271 T G rs751271 2.92E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 16 50751175 rs751271 T G rs751271 5.26E-11 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50751398 rs748855 A G rs748855 2.63E-07 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 16 50751787 rs1861758 G A rs1861758 5.31E-07 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 16 50753424 rs7203691 G A rs7203691 1.37E-06 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 16 50755709 rs10521209 T G rs10521209 8.65E-05 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait 16 50756540 rs2066845 G C,T rs2066845 7.44E-10 Crohn's disease HPOID:0100280 DOID:8778 G missense GWASdb_trait 16 50756540 rs2066845 G C,T rs2066845 1.00E-45 Crohn's disease HPOID:0100280 DOID:8778 G missense GWASdb_trait 16 50756540 rs2066845 G C,T rs2066845 4.62E-08 Crohn's disease HPOID:0100280 DOID:8778 G missense GWASdb_trait 16 50756774 rs5743289 C G,T rs5743289 1.00E-06 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait 16 50756774 rs5743289 C G,T rs5743289 6.00E-17 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait 16 50756774 rs5743289 C G,T rs5743289 4.00E-10 Inflammatory bowel disease HPOID:0004386 DOID:0050589 T intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 5.00E-10 Inflammatory bowel disease HPOID:0004386 DOID:0050589 A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 7.00E-14 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 4.60E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 1.00E-21 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 1.00E-09 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 4.00E-69 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 1.00E-37 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50756881 rs2076756 A G rs2076756 3.00E-10 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50757276 rs5743291 G A rs5743291 1.00E-20 Crohn's disease HPOID:0100280 DOID:8778 G missense GWASdb_trait 16 50758849 rs749910 G A rs749910 1.84E-31 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 16 50759547 rs1077861 A T rs1077861 9.00E-04 Gamma gluatamyl transferase levels (interaction with age) HPOID:0002664|HPOID:0005978|HPOID:0001626 DOID:1574|DOID:409 T intron GWASdb_trait 16 50763778 rs199883290 G C rs2066847 2.51E-49 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs199883290 G C rs2066847 3.00E-24 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs199883290 G C rs2066847 2.00E-15 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs199883290 G C rs2066847 3.00E-24 Asthma HPOID:0002099 DOID:2841 G frameshift GWASdb_trait 16 50763778 rs199883290 G C rs2066847 6.00E-209 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs2066847 G GC rs2066847 2.51E-49 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs2066847 G GC rs2066847 3.00E-24 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs2066847 G GC rs2066847 2.00E-15 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs2066847 G GC rs2066847 3.00E-24 Asthma HPOID:0002099 DOID:2841 G frameshift GWASdb_trait 16 50763778 rs2066847 G GC rs2066847 6.00E-209 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs540973741 G GC rs2066847 2.51E-49 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs540973741 G GC rs2066847 3.00E-24 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs540973741 G GC rs2066847 2.00E-15 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs540973741 G GC rs2066847 3.00E-24 Asthma HPOID:0002099 DOID:2841 G frameshift GWASdb_trait 16 50763778 rs540973741 G GC rs2066847 6.00E-209 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs5743293 G GC rs2066847 2.51E-49 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs5743293 G GC rs2066847 3.00E-24 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs5743293 G GC rs2066847 2.00E-15 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50763778 rs5743293 G GC rs2066847 3.00E-24 Asthma HPOID:0002099 DOID:2841 G frameshift GWASdb_trait 16 50763778 rs5743293 G GC rs2066847 6.00E-209 Crohn's disease HPOID:0100280 DOID:8778 G frameshift GWASdb_trait 16 50766127 rs3135499 A C rs3135499 1.11E-08 Multiple complex diseases HPOID:0000118 NA C UTR-3 GWASdb_trait 16 50766127 rs3135499 A C rs3135499 1.62E-08 Crohn's disease HPOID:0100280 DOID:8778 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000167207.11 NOD2 605956