List of variants reported as pathogenic for Alagille syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 207

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)	rs769531968	0.00001
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)	rs1570660422	0.00001
GRCh37/hg19 20p12.2(chr20:10124855-11479105)
JAG1, 1329, T-G, +2
NC_000020.10:g.(?_10653329)_(10654278_?)del
NC_000020.11:g.(?_10253609)_(10673550_?)del
NC_000020.11:g.10641783dup	rs2122597170
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del
NM_000214.3(JAG1):c.1007-2A>G	rs2122613705
NM_000214.3(JAG1):c.1013del (p.His338fs)	rs2067347502
NM_000214.3(JAG1):c.1025_1026del (p.Leu341_Ser342insTer)	rs2067347395
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)	rs1600185499
NM_000214.3(JAG1):c.107del (p.Glu36fs)
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs)	rs2067346904
NM_000214.3(JAG1):c.1101dup (p.Gly368fs)	rs2122613554
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser)	rs121918352
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs)	rs2067337118
NM_000214.3(JAG1):c.1139del (p.Pro380fs)	rs2122611660
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)	rs863223650
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter)
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs)	rs1555828843
NM_000214.3(JAG1):c.1205del (p.Pro402fs)	rs35615084
NM_000214.3(JAG1):c.1205dup (p.Gln403fs)	rs35615084
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter)	rs2067336398
NM_000214.3(JAG1):c.123del (p.Met42fs)
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter)	rs764485729
NM_000214.3(JAG1):c.1312dup (p.Cys438fs)	rs2122610459
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter)	rs1568796883
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter)	rs1060501347
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)
NM_000214.3(JAG1):c.1363del (p.Gly456fs)	rs2122609680
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)	rs1289016419
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer)	rs2067328461
NM_000214.3(JAG1):c.1395+3A>G	rs886044220
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)	rs1600196580
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs)	rs1568796241
NM_000214.3(JAG1):c.1448_1449del (p.His483fs)	rs2122608890
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)	rs1568796236
NM_000214.3(JAG1):c.1470_1472dup (p.Cys491Ter)
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)	rs876660981
NM_000214.3(JAG1):c.1485del (p.Cys496fs)	rs2122608799
NM_000214.3(JAG1):c.1489_1490dup (p.Leu497fs)	rs2122608790
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs)	rs2067324506
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)
NM_000214.3(JAG1):c.1601del (p.Cys534fs)	rs2067321711
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter)	rs2122607772
NM_000214.3(JAG1):c.1656del (p.Glu553fs)	rs1568795820
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter)	rs759763539
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter)	rs2122607723
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer)	rs2122607689
NM_000214.3(JAG1):c.1713del (p.Cys572fs)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs)	rs1555828546
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu)	rs2067320699
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)	rs2067320699
NM_000214.3(JAG1):c.1764dup (p.Glu589Ter)
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter)	rs2122606277
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)
NM_000214.3(JAG1):c.1829del (p.Gly610fs)	rs2122606192
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs)	rs1600182812
NM_000214.3(JAG1):c.1868dup (p.Thr624fs)	rs2122606128
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter)	rs2122606113
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)	rs1555828321
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)	rs1600182107
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
NM_000214.3(JAG1):c.2026del (p.Cys676fs)
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)	rs2067301859
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)	rs886039393
NM_000214.3(JAG1):c.2113+1G>T	rs1294950721
NM_000214.3(JAG1):c.2113+5G>C	rs886044704
NM_000214.3(JAG1):c.2113del (p.Arg705fs)
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter)	rs886044136
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000214.3(JAG1):c.2123_2124del (p.Gln708fs)	rs2122603085
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs)	rs1568794128
NM_000214.3(JAG1):c.2173dup (p.Asp725fs)	rs1568794128
NM_000214.3(JAG1):c.217dup (p.Thr73fs)
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter)	rs2122602893
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)	rs755427292
NM_000214.3(JAG1):c.2318del (p.Gly773fs)	rs2122602312
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter)	rs1555828173
NM_000214.3(JAG1):c.2323del (p.Glu775fs)	rs2067296758
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)
NM_000214.3(JAG1):c.2342dup (p.Asn782fs)	rs886039887
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter)	rs1189479619
NM_000214.3(JAG1):c.2372+1G>T	rs2067293664
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)	rs1600196443
NM_000214.3(JAG1):c.2406del (p.Trp803fs)
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter)	rs2122600550
NM_000214.3(JAG1):c.2415del (p.Cys806fs)
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)	rs533306015
NM_000214.3(JAG1):c.2458+1G>A	rs2122600431
NM_000214.3(JAG1):c.2458+2_2458+4del
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter)	rs1437309558
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs)	rs1600179892
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)	rs1600179855
NM_000214.3(JAG1):c.2572+1G>C
NM_000214.3(JAG1):c.2572+1G>T
NM_000214.3(JAG1):c.2575dup (p.Ser859fs)
NM_000214.3(JAG1):c.2595dup (p.Met866fs)
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter)	rs2122597347
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter)	rs2122597289
NM_000214.3(JAG1):c.2629dup (p.Asp877fs)	rs2067274453
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer)	rs1568792286
NM_000214.3(JAG1):c.2640dup (p.Asn881Ter)
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter)	rs2122597239
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter)	rs1060501350
NM_000214.3(JAG1):c.2690dup (p.Cys897fs)	rs2067273607
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)	rs1555827789
NM_000214.3(JAG1):c.270dup (p.Pro91fs)	rs863223667
NM_000214.3(JAG1):c.273del (p.Cys92fs)	rs2122644538
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs)
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs)	rs1555827769
NM_000214.3(JAG1):c.2840del (p.Lys947fs)	rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter)	rs1060501352
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter)	rs2122596452
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter)	rs878853752
NM_000214.3(JAG1):c.2916+1G>C	rs1568791920
NM_000214.3(JAG1):c.2917-1G>T	rs2122595945
NM_000214.3(JAG1):c.2919del (p.Thr975fs)
NM_000214.3(JAG1):c.2966dup (p.Leu989fs)	rs1555827729
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter)	rs2067268487
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter)	rs372984801
NM_000214.3(JAG1):c.3006_3024dup (p.Asn1009fs)	rs2122595693
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter)	rs781509375
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs)	rs1600178720
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs)	rs1600178730
NM_000214.3(JAG1):c.3039dup (p.Val1014fs)	rs2122595645
NM_000214.3(JAG1):c.3049-2A>G	rs2122595262
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs)
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter)	rs2122595154
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)	rs1555827653
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs)	rs2122595010
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs)	rs1555827650
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs)	rs2067265104
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs)
NM_000214.3(JAG1):c.3203del (p.Phe1068fs)	rs2122593684
NM_000214.3(JAG1):c.341del (p.Gly114fs)
NM_000214.3(JAG1):c.3452del (p.Thr1151fs)
NM_000214.3(JAG1):c.349del (p.Arg117fs)
NM_000214.3(JAG1):c.350del (p.Arg117fs)	rs1555830929
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)	rs886039724
NM_000214.3(JAG1):c.388-2A>C	rs2067434947
NM_000214.3(JAG1):c.390dup (p.Ser131fs)	rs886044111
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)	rs1555831014
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs)	rs2067434779
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly)
NM_000214.3(JAG1):c.439+1G>A	rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)	rs886043606
NM_000214.3(JAG1):c.443del (p.Pro148fs)
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
NM_000214.3(JAG1):c.532del (p.His178fs)	rs2067394045
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)	rs1060501351
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.558_567del (p.Cys187fs)	rs2067393679
NM_000214.3(JAG1):c.578del (p.Gly193fs)	rs2067393549
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter)	rs2122623590
NM_000214.3(JAG1):c.655dup (p.Thr219fs)	rs2122623531
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe)
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter)	rs1286744339
NM_000214.3(JAG1):c.693_694del (p.Arg231fs)	rs876660978
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)	rs876660980
NM_000214.3(JAG1):c.715dup (p.Ser239fs)
NM_000214.3(JAG1):c.734dup (p.Cys245fs)	rs2122620277
NM_000214.3(JAG1):c.73_74del (p.Arg25fs)	rs2067513100
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter)	rs2122615158
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)	rs886043603
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter)	rs876661096
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr)	rs1568798248
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)
NM_000214.3(JAG1):c.886+1G>A	rs1600186024
NM_000214.3(JAG1):c.903dup (p.Thr302fs)	rs2122614562
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter)	rs863223649
NM_000214.3(JAG1):c.912del (p.Gln304fs)
NM_000214.3(JAG1):c.932del (p.Thr311fs)	rs1555829037
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter)	rs2122614453
NM_000214.3(JAG1):c.941del (p.Asn314fs)
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)	rs2122644940
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter)
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter)	rs2122614368
NM_000214.3(JAG1):c.98G>T (p.Gly33Val)	rs2122644925
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr)	rs111033632
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)	rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A	rs312262798
NM_024408.4(NOTCH2):c.5930-2A>G
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)	rs1649084282
t(4;20)(q22.1;p12.2)

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