ClinVar Miner

List of variants in gene JAG1 reported as pathogenic

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Total variants: 157
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HGVS dbSNP
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
JAG1, 1-BP INS, 684G
JAG1, 1329, T-G, +2
NC_000020.10:g.(?_10620126)_(10620623_?)del
NM_000214.2(JAG1):c.1720+1delG rs886044349
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) rs1555830922
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs) rs886043451
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1192_1193TG[5] (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter) rs794727953
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs) rs886044604
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter) rs1568796883
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter) rs794726974
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) rs1555828770
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) rs1060501347
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1396-2A>G rs1568796298
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) rs1568796241
NM_000214.3(JAG1):c.1450_1451TG[1] (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs) rs1555828652
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs) rs1555828646
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) rs886039696
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) rs1555828640
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter) rs1568796158
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1714_1715TG[1] (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) rs886043130
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs)
NM_000214.3(JAG1):c.1897_1898TG[1] (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)
NM_000214.3(JAG1):c.2039dup (p.Thr681fs) rs1555828250
NM_000214.3(JAG1):c.203dup (p.Asp69fs) rs1568807044
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2096_2100del rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
NM_000214.3(JAG1):c.2113+1G>T rs1294950721
NM_000214.3(JAG1):c.2113+5G>C rs886044704
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs) rs1568794159
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter) rs886044136
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) rs1555828209
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) rs886043605
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter) rs886043904
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2342dup (p.Asn782fs) rs886039887
NM_000214.3(JAG1):c.2345-1G>A rs1568793670
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2418del (p.Cys806fs) rs876661165
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter) rs1568793265
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.2503_2504TG[2] (p.Val836fs)
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs)
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) rs1568792344
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) rs1085307595
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter) rs1060501350
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs) rs1555827790
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) rs863223667
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter) rs886043869
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs) rs1568792147
NM_000214.3(JAG1):c.2728dup (p.Glu910fs) rs886042155
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter) rs1568792125
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) rs1555827760
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) rs863223675
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) rs876661182
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) rs1568791692
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs)
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) rs1555827717
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3062del (p.Ile1021fs) rs876661095
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.30del (p.Arg12fs) rs1568807483
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs) rs1568791393
NM_000214.3(JAG1):c.3166_3167AG[1] (p.Arg1056fs) rs1555827650
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) rs1568791022
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.350del (p.Arg117fs) rs1555830929
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.387+2T>C rs1555830919
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.41del (p.Leu14fs) rs1568807463
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) rs1568801096
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter) rs1568801068
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) rs1060501351
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.693_694del (p.Arg231Serfs) rs876660978
NM_000214.3(JAG1):c.694+1G>A rs876660979
NM_000214.3(JAG1):c.694+1G>T
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.756-1G>T rs1568798388
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.797del (p.Ile266fs) rs863223668
NM_000214.3(JAG1):c.7dup (p.Ser3fs) rs863223662
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.850_851TG[1] (p.Cys284_Glu285delinsTer) rs1568798289
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.929del (p.Gly310fs) rs1555829039
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) rs863223669
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter) rs1568798024

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