JAG1 — 2258 ClinVar variants

Pathogenic 313

Showing the top 300 by review status; the full set is in the sitemap.

• c.1395+3A>G Multiple submitters tetralogy of fallot
• c.2458+2_2458+5del Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.439+1G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.886+1G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ala1008fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ala662fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg231fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg235Ter Multiple submitters JAG1-related disorder
• p.Arg543fs Multiple submitters JAG1-related disorder
• p.Arg744Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, Type 2HH
• p.Arg900Ter Multiple submitters JAG1-related disorder
• p.Asn695fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asp692_Cys693insTer Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asp725fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys1002fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys436Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys522fs Multiple submitters JAG1-related disorder
• p.Cys572fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys633_Glu634delinsTer Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys768Ter Multiple submitters JAG1-related disorder
• p.Cys806Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys902Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys92fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln147Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln281Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln291Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln304Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln403fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln457Ter Multiple submitters Cardiovascular phenotype
• p.Gln539Ter Multiple submitters JAG1-related disorder
• p.Gln708Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln884Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln915Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Glu1003Ter Multiple submitters JAG1-related disorder
• p.Glu353Ter Multiple submitters Cardiovascular phenotype
• p.Gly208Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gly456fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gly699fs Multiple submitters deafness, congenital heart defects, and posterior embryotoxon
• p.Ile742fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Leu989fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Lys694Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Phe126Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro401fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro91fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser131fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser32Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr758fs Multiple submitters focal segmental glomerulosclerosis 7
• p.Trp257Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Trp774Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Tyr191fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Val1014fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Val1055fs Multiple submitters JAG1-related disorder
• p.Val760fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1396-2A>G Single submitter
• c.1720+1del Single submitter
• c.2113+5G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2345-1G>A Single submitter
• c.2345-2A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+1G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+2dup Single submitter
• c.2458+1G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2572+1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2917-1G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3049-2A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.387+2T>C Single submitter
• c.388-2A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.439+1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.694+1G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.756-1G>T Single submitter
• c.81+1G>A Single submitter
• c.82-2A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ala1015delinsLysTrpIleHisSerSerThrHisThrLeuSerGlnAspTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ala23fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ala492fs Single submitter
• p.Ala874fs Single submitter
• p.Arg1056fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg117fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg12fs Single submitter
• p.Arg25Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg486fs Single submitter JAG1-related disorder
• p.Arg508fs Single submitter
• p.Arg705fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn1009fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn1010fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn197fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn217fs Single submitter
• p.Asn314fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn394fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn452Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn469Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn498fs Single submitter
• p.Asn507fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn631fs Single submitter
• p.Asn649fs Single submitter
• p.Asn822fs Single submitter
• p.Asn881Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn966Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp1020fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp1067fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp69fs Single submitter
• p.Asp706fs Single submitter
• p.Asp710fs Single submitter Inborn genetic diseases
• p.Asp877fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp879_Cys880insTer Single submitter
• p.Cys1002Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys187fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys196fs Single submitter
• p.Cys220Phe Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys245fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys265Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys284_Glu285delinsTer Single submitter
• p.Cys293_Asp294delinsTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys29Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys312Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys322Ter Single submitter
• p.Cys351fs Single submitter Deafness
• p.Cys362fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys416Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys421Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys438fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys447fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys454Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys475fs Single submitter Cardiovascular phenotype
• p.Cys491Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys522Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys534fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys551Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys55Ter Single submitter Cardiovascular phenotype
• p.Cys560Ter Single submitter
• p.Cys572_Glu573delinsTer Single submitter
• p.Cys578Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys599fs Single submitter deafness, congenital heart defects, and posterior embryotoxon
• p.Cys605fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys626Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys653fs Single submitter
• p.Cys702Ter Single submitter
• p.Cys753fs Single submitter
• p.Cys770Ter Single submitter
• p.Cys791fs Single submitter
• p.Cys806fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys808Ter Single submitter
• p.Cys824Ter Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH
• p.Cys835Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys844fs Single submitter
• p.Cys844Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys846Ter Single submitter
• p.Cys897fs Single submitter
• p.Cys925fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys948Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln1058Ter Single submitter Cardiovascular phenotype
• p.Gln166Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln172Ter Single submitter JAG1-related disorder
• p.Gln182Ter Single submitter
• p.Gln214Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln254Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln34fs Single submitter
• p.Gln403Ter Single submitter
• p.Gln410Ter Single submitter
• p.Gln459_Asn460insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln459Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln503_Asn504insTer Single submitter
• p.Gln50Ter Single submitter Alagille syndrome
• p.Gln510Ter Single submitter
• p.Gln535Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln608Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln708fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln781Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln856Ter Single submitter
• p.Gln955Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu137fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu180Ter Single submitter
• p.Glu222fs Single submitter
• p.Glu228Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu326Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu353fs Single submitter
• p.Glu361fs Single submitter
• p.Glu36fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu48Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu553Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu556Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu589Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu70Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu775fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu81fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu910fs Single submitter
• p.Glu935Ter Single submitter
• p.Glu982_Leu983insTer Single submitter
• p.Gly193fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly216fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly310fs Single submitter
• p.Gly33Val Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly368fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly470fs Single submitter
• p.Gly603fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly610fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly737Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly773fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly90fs Single submitter
• p.His178fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.His338fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.His483fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.His562_Leu563insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.His850fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile1021fs Single submitter
• p.Ile1082fs Single submitter
• p.Ile120Asnfs Single submitter
• p.Ile120Thr Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile266fs Single submitter
• p.Ile375fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile449fs Single submitter
• p.Ile654_Cys655insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile654fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile890fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile920fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile979fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile998fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Leu1072fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Leu1073fs Single submitter
• p.Leu14fs Single submitter
• p.Leu18_Leu24del Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Leu341_Ser342insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Leu411Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Leu497fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys1034Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys154Ter Single submitter
• p.Lys397Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys407fs Single submitter
• p.Lys619fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys65fs Single submitter
• p.Lys700fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys80Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys875fs Single submitter focal segmental glomerulosclerosis 7
• p.Lys947fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys990Ter Single submitter
• p.Met1_Gly8del Single submitter
• p.Met42fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Met866fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Phe1068fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Phe124fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Phe206fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro1004fs Single submitter
• p.Pro1006fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro13_Leu14insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro148fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro325fs Single submitter
• p.Pro380fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro402fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro588fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro777fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro871Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro899fs Single submitter JAG1-related disorder
• p.Pro943_Val944insTer Single submitter
• p.Ser1047Ter Single submitter Inborn genetic diseases
• p.Ser15fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser239fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser329Ter Single submitter
• p.Ser350fs Single submitter
• p.Ser3fs Single submitter
• p.Ser577Arg Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH ⚠
• p.Ser672fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser851fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser859fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser997Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr1151fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr219fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr302fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr311fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr624fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr681fs Single submitter
• p.Thr73fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr931fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr975fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr976fs Single submitter
• p.Trp128Ter Single submitter
• p.Trp139Gly Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp139Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp442Ter Single submitter
• p.Trp659Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp803fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp876Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp896Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr132Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr181Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr255Ter Single submitter
• p.Tyr261Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr328Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr479Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr541_Asn542delinsTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr593Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr651Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr804Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Val574Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Val77fs Single submitter tetralogy of fallot
• p.Val836fs Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1007-2A>G No assertion criteria Alagille syndrome due to a JAG1 point mutation
• c.2458+2_2458+4del No assertion criteria Alagille syndrome due to a JAG1 point mutation
• c.2682+1G>A No assertion criteria JAG1-related disorder
• c.(755+1_756-1 No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Ala26fs No assertion criteria Alagille syndrome due to a JAG1 point mutation

Pathogenic/Likely pathogenic 21

• c.2113+1G>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2572+1G>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2682+1G>T Multiple submitters
• c.438_439+2del Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ala1001fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg184Cys Multiple submitters JAG1-related disorder
• p.Arg184His Multiple submitters JAG1-related disorder
• p.Arg25fs Multiple submitters JAG1-related disorder
• p.Asp1023fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys484_Glu485delinsTer Multiple submitters JAG1-related disorder
• p.Cys534Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys693Tyr Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln34Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gln825Ter Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Glu1003fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Glu553fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gly104fs Multiple submitters deafness, congenital heart defects, and posterior embryotoxon
• p.Gly386Arg Multiple submitters JAG1-related disorder ⚠
• p.Met1Ile Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1066fs Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Trp167Ter Multiple submitters JAG1-related disorder

Likely pathogenic 129

• c.2113+1G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.886+3A>G Multiple submitters Cardiovascular phenotype
• p.Leu18Arg Multiple submitters Alagille syndrome due to a JAG1 point mutation ⚠
• p.Leu79Phe Multiple submitters JAG1-related disorder
• c.1349-173_1483del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1349-2A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-1G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1569+1G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1569+1G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1570-2A>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1720+1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-178_1721-41delinsTA Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-2A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-2A>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1886-1G>A Single submitter
• c.1999+1G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2114-2A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2114-5_2119delinsACACACCACCTGCACGTG Single submitter familial thoracic aortic aneurysm and aortic dissection
• c.2458+2T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2458+5G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2459-2A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2683-1G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3035_3048+4del Single submitter JAG1-related disorder
• c.3044_3048+5del Single submitter JAG1-related disorder
• c.3048+2T>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.387+1G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.387+1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.387+1G>T Single submitter
• c.694+1G>A Single submitter
• c.695-1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.756-1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.756-2A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.756-83_780del Single submitter JAG1-related disorder
• c.82-1G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ala58fs Single submitter JAG1-related disorder
• p.Arg64fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg984fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn745_Ser746insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp69Asn Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Cys1084fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys196Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys212Arg Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys229Gly Single submitter JAG1-related disorder
• p.Cys234Ser Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys234Tyr Single submitter deafness, congenital heart defects, and posterior embryotoxon
• p.Cys238Arg Single submitter
• p.Cys360_Glu361delinsTer Single submitter JAG1-related disorder
• p.Cys436fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys549fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys605_Ser607delinsTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys682Tyr Single submitter
• p.Cys691_Asp692delinsTer Single submitter JAG1-related disorder
• p.Cys691Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys748Arg Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys808Tyr Single submitter
• p.Cys883Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys911Trp Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys911Tyr Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln236Ter Single submitter JAG1-related disorder
• p.Gln608fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu361Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu736fs Single submitter JAG1-related disorder
• p.Glu977fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly274Asp Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly33Ser Single submitter
• p.Gly47fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly696fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly757fs Single submitter JAG1-related disorder
• p.Gly8fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly934fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.His209Arg Single submitter ⚠
• p.His501fs Single submitter
• p.Ile1000fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile1149fs Single submitter hepatoblastoma
• p.Leu18fs Single submitter
• p.Leu24Arg Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Leu79fs Single submitter
• p.Lys1063fs Single submitter JAG1-related disorder
• p.Lys612fs Single submitter JAG1-related disorder
• p.Lys728Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys947_Cys948insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Lys967fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Phe199fs Single submitter JAG1-related disorder
• p.Pro4fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro810Arg Single submitter focal segmental glomerulosclerosis 7 ⚠
• p.Pro972Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ser1005Ter Single submitter Alagille syndrome
• p.Ser826fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser868fs Single submitter JAG1-related disorder
• p.Ser916fs Single submitter JAG1-related disorder
• p.Thr949_Ser950insTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp1081_Ile1082insTer Single submitter JAG1-related disorder
• p.Trp1081fs Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp280fs Single submitter JAG1-related disorder
• p.Trp288Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp366Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp404Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp697Ter Single submitter
• p.Trp735Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Trp876_Asp879delinsTer Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr190Ter Single submitter JAG1-related disorder
• p.Tyr299Ter Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Tyr996Ter Single submitter JAG1-related disorder
• p.Val101Leu Single submitter
• p.Val136Gly Single submitter JAG1-related disorder
• p.Asn585fs No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Asn669fs No assertion criteria JAG1-related disorder
• p.Asp263_Lys264delinsGlu No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Asp72fs No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Cys234Ter No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Cys438Tyr No assertion criteria atypical coarctation of aorta
• p.Cys880Arg No assertion criteria Hepatic Ductular Hypoplasia
• p.Cys911Ter No assertion criteria JAG1-related disorder
• p.Glu228fs No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Glu36Lys No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Glu660Ter No assertion criteria JAG1-related disorder
• p.Gly737fs No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Gly832fs No assertion criteria JAG1-related disorder
• p.Ile233fs No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Leu986fs No assertion criteria Hepatic Ductular Hypoplasia
• p.Lys698fs No assertion criteria atypical coarctation of aorta
• p.Met1Leu No assertion criteria JAG1-related disorder
• p.Met1Lys No assertion criteria JAG1-related disorder
• p.Met1Thr No assertion criteria JAG1-related disorder
• p.Phe179fs No assertion criteria JAG1-related disorder
• p.Thr796fs No assertion criteria Alagille syndrome due to a JAG1 point mutation
• p.Val1052fs No assertion criteria JAG1-related disorder
• p.Val176fs No assertion criteria JAG1-related disorder
• p.Val648fs No assertion criteria JAG1-related disorder

Conflicting classifications of pathogenicity 234

• c.1348+3G>A Single submitter Cardiovascular phenotype
• c.1349-9_1349-6del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1720+5C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-15A>G Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.2345-8_2345-6del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+3_2372+6del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2682+8A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2917-7G>A Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.3048+1G>A Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• c.3048+1G>T Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• c.439+9C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.695-10dup Single submitter Alagille syndrome due to a JAG1 point mutation
• c.756-14C>T Single submitter deafness, congenital heart defects, and posterior embryotoxon
• c.-384T>G Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.*1551C>T Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.*9G>A Single submitter
• p.Ala1001Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala1001Thr Single submitter JAG1-related disorder ⚠
• p.Ala1051= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ala111Val Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala1131Thr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala1168Gly Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala1175Thr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala1175Val Single submitter JAG1-related disorder ⚠
• p.Ala155Pro Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala339Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala424Thr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ala480Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala492Val Single submitter Cardiovascular phenotype ⚠
• p.Ala833Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala833Val Single submitter Cardiovascular phenotype ⚠
• p.Ala891Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala994Thr Single submitter Cardiovascular phenotype ⚠
• p.Arg1022Gln Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg1042Cys Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg1060Gln Single submitter Isolated Nonsyndromic Congenital Heart Disease ⚠
• p.Arg1060Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1094Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1094Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1097Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1116Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1116Trp Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg1169Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1169Gly Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg1169Trp Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg117Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg1181Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg12= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg1213Gln Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg165Gln Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg201Cys Single submitter JAG1-related disorder ⚠
• p.Arg25Gln Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg2Leu Single submitter JAG1-related disorder ⚠
• p.Arg465Gln Single submitter deafness, congenital heart defects, and posterior embryotoxon ⚠
• p.Arg472Cys Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg472His Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg543Cys Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg543His Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg568= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg568Cys Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg592Gln Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg639Lys Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg68= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg68Pro Single submitter Cardiovascular phenotype ⚠
• p.Arg7Cys Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg843Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg843Trp Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg889Gln Single submitter tetralogy of fallot ⚠
• p.Arg889Gly Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg889Trp Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asn1110Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asn1110Thr Single submitter Cardiovascular phenotype ⚠
• p.Asn1114= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn1187Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asn1195Asp Single submitter Cardiovascular phenotype ⚠
• p.Asn287Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn382= Single submitter Cardiovascular phenotype
• p.Asn504Ser Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH ⚠
• p.Asn585= Single submitter Cardiovascular phenotype
• p.Asn640= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn716= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asn762= Single submitter Cardiovascular phenotype
• p.Asn784Asp Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asp1033Asn Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asp1033Gly Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asp1037Asn Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asp1043Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1109Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp1160Asn Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asp189Gly Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Asp437Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp482Asn Single submitter deafness, congenital heart defects, and posterior embryotoxon ⚠
• p.Asp489Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp525= Single submitter Cardiovascular phenotype
• p.Asp586Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp657= Single submitter Cardiovascular phenotype
• p.Asp872Gly Single submitter tetralogy of fallot ⚠
• p.Asp878Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp923Asn Single submitter Cardiovascular phenotype ⚠
• p.Cys22Arg Single submitter
• p.Cys234= Single submitter Cardiovascular phenotype
• p.Cys238Tyr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Cys293Tyr Single submitter Cardiovascular phenotype ⚠
• p.Cys436= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys447Arg Single submitter ⚠
• p.Cys768= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys817= Single submitter Cardiovascular phenotype
• p.Cys902Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gln168= Single submitter Cardiovascular phenotype
• p.Gln445= Single submitter Cardiovascular phenotype
• p.Gln83Arg Single submitter Cardiovascular phenotype ⚠
• p.Glu1003Lys Single submitter deafness, congenital heart defects, and posterior embryotoxon ⚠
• p.Glu326= Single submitter deafness, congenital heart defects, and posterior embryotoxon
• p.Glu553Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu910Lys Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Glu935= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Glu935Lys Single submitter Cardiovascular phenotype ⚠
• p.Gly1025= Single submitter Cardiovascular phenotype
• p.Gly1188Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gly274Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gly368Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly441Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly456Asp Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gly481= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gly537Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gly696Glu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gly717Ala Single submitter Cardiovascular phenotype
• p.Gly733= Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Gly734Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Gly763Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly860Glu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.His1013Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.His1129Asn Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH ⚠
• p.His1193Tyr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.His242Arg Single submitter Alagille syndrome due to a JAG1 point mutation
• p.His562Arg Single submitter Cardiovascular phenotype ⚠
• p.His905= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ile1000Val Single submitter deafness, congenital heart defects, and posterior embryotoxon ⚠
• p.Ile1028Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ile1217= Single submitter Cardiovascular phenotype
• p.Ile1217Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ile488= Single submitter Cardiovascular phenotype
• p.Ile594Phe Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ile778Thr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ile864Val Single submitter Cardiovascular phenotype ⚠
• p.Ile870Thr Single submitter Cardiovascular phenotype ⚠
• p.Ile918Val Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ile920Phe Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH ⚠
• p.Leu21Pro Single submitter Cardiovascular phenotype ⚠
• p.Leu341= Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Leu921Pro Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Lys1095Arg Single submitter Cardiovascular phenotype ⚠
• p.Lys425Arg Single submitter Cardiovascular phenotype ⚠
• p.Lys612Arg Single submitter Cardiovascular phenotype ⚠
• p.Lys771Arg Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Met1161Val Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Met443Ile Single submitter tetralogy of fallot ⚠
• p.Met866Val Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Phe509Leu Single submitter Cardiovascular phenotype ⚠
• p.Phe766= Single submitter Cardiovascular phenotype
• p.Phe926= Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Pro1006Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Pro1174= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro1174Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Pro1186Arg Single submitter Cardiovascular phenotype ⚠
• p.Pro1190= Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Pro1190Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Pro163= Single submitter Cardiovascular phenotype
• p.Pro248= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Pro269Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro305= Single submitter Cardiovascular phenotype
• p.Pro402Arg Single submitter Cardiovascular phenotype ⚠
• p.Pro476Leu Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Pro61Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro777Ser Single submitter Isolated Nonsyndromic Congenital Heart Disease ⚠
• p.Pro810Leu Single submitter tetralogy of fallot ⚠
• p.Pro901Thr Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Pro943Leu Single submitter tetralogy of fallot ⚠
• p.Pro943Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ser1101Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser1105Thr Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH ⚠
• p.Ser142Asn Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ser32= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Ser372Phe Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Ser609Leu Single submitter Isolated Nonsyndromic Congenital Heart Disease ⚠
• p.Ser787Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser851Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser868= Single submitter Cardiovascular phenotype
• p.Ser913= Single submitter Cardiovascular phenotype
• p.Ser939= Single submitter Cardiovascular phenotype
• p.Ser971Pro Single submitter deafness, congenital heart defects, and posterior embryotoxon ⚠
• p.Ser993= Single submitter Cardiovascular phenotype
• p.Thr106Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr1087Met Single submitter Cardiovascular phenotype ⚠
• p.Thr1103Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr1103Ile Single submitter Charcot-Marie-Tooth disease, axonal, Type 2HH ⚠
• p.Thr1133Met Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr1177Met Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr1189Met Single submitter Cardiovascular phenotype ⚠
• p.Thr133= Single submitter Cardiovascular phenotype
• p.Thr169Met Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr174Met Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr311Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr354Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr367= Single submitter Cardiovascular phenotype
• p.Thr373= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Thr373Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr405Ser Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr569Met Single submitter Cardiovascular phenotype ⚠
• p.Thr622Met Single submitter Cardiovascular phenotype ⚠
• p.Thr681= Single submitter Cardiovascular phenotype
• p.Thr681Met Single submitter Cardiovascular phenotype ⚠
• p.Thr767Met Single submitter Isolated Nonsyndromic Congenital Heart Disease ⚠
• p.Thr931Ile Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr962Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Thr976Met Single submitter Cardiovascular phenotype ⚠
• p.Trp1081Ter Single submitter JAG1-related disorder ⚠
• p.Trp896Leu Single submitter Cardiovascular phenotype ⚠
• p.Tyr192Cys Single submitter JAG1-related disorder ⚠
• p.Tyr953= Single submitter Cardiovascular phenotype
• p.Val1052Ile Single submitter Cardiovascular phenotype ⚠
• p.Val1070Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Val1115Met Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Val1156Ala Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Val1218Ile Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Val272Ile Single submitter Cardiovascular phenotype ⚠
• p.Val28Leu Single submitter Cardiovascular phenotype ⚠
• p.Val399Met Single submitter Alagille syndrome due to a JAG1 point mutation ⚠
• p.Val45Leu Single submitter Isolated Nonsyndromic Congenital Heart Disease ⚠
• p.Val598= Single submitter Cardiovascular phenotype
• p.Val769= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Val769Ile Single submitter Cardiovascular phenotype ⚠
• p.Val927= Single submitter Cardiovascular phenotype
• p.Val927Ile Single submitter tetralogy of fallot ⚠

Benign 96

• c.1349-117A>C Multiple submitters
• c.1396-155A>G Multiple submitters
• c.1569+68T>G Multiple submitters
• c.1570-136T>A Multiple submitters
• c.1570-73C>G Multiple submitters
• c.1721-21G>A Multiple submitters
• c.1885+41C>T Multiple submitters
• c.2000-120C>T Multiple submitters
• c.2114-18T>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2228-68G>A Multiple submitters
• c.2345-76A>G Multiple submitters
• c.2372+77T>A Multiple submitters
• c.2458+236T>C Multiple submitters
• c.2458+30A>G Multiple submitters
• c.2572+47G>A Multiple submitters
• c.2916+18dup Multiple submitters
• c.2916+27del Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.3199+126T>G Multiple submitters
• c.388-149C>T Multiple submitters
• c.388-43C>T Multiple submitters
• c.439+86T>C Multiple submitters
• c.440-15T>C Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.440-173C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.694+55A>G Multiple submitters
• c.755+113T>A Multiple submitters
• c.755+114A>T Multiple submitters
• c.755+51G>A Multiple submitters
• c.756-67A>G Multiple submitters
• c.82-85C>T Multiple submitters
• c.-385T>G Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.-433G>A Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.*1132T>G Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.*1572A>G Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.*756A>G Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Asp922= Multiple submitters Cardiovascular phenotype
• p.Cys196= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Gly89= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr738= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Tyr1139= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Tyr1176= Multiple submitters Cardiovascular phenotype
• p.Tyr255= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.1235-87C>A Single submitter
• c.1349-59A>C Single submitter
• c.1395+81T>G Single submitter
• c.1396-82C>T Single submitter
• c.1569+47C>T Single submitter
• c.1721-223TG[2] Single submitter
• c.1885+252C>T Single submitter
• c.2227+38G>A Single submitter
• c.2227+50G>C Single submitter
• c.2372+43TG[17] Single submitter
• c.2372+43TG[18] Single submitter
• c.2372+43TG[20] Single submitter
• c.2372+43TG[21] Single submitter
• c.2372+80_2372+81insGTGTGA Single submitter
• c.2372+80_2372+81insGTGTGTGA Single submitter
• c.2458+124G>T Single submitter
• c.2458+143G>A Single submitter
• c.2458+28C>T Single submitter
• c.2458+62C>T Single submitter
• c.2459-89T>G Single submitter
• c.2459-99T>A Single submitter
• c.2572+117A>G Single submitter
• c.2572+274G>A Single submitter
• c.2573-294C>A Single submitter
• c.2917-32dup Single submitter
• c.3048+49C>T Single submitter
• c.3199+218G>A Single submitter
• c.3199+258G>T Single submitter
• c.387+117G>T Single submitter
• c.440-22T>G Single submitter
• c.694+121T>C Single submitter
• c.694+26C>T Single submitter
• c.694+270C>A Single submitter
• c.695-231A>C Single submitter
• c.695-5del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.755+15C>T Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.755+287T>C Single submitter
• c.82-161del Single submitter
• c.82-175dup Single submitter
• c.887-58A>G Single submitter
• c.-386dup Single submitter
• c.*1084G>C Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.*1493A>G Single submitter Isolated Nonsyndromic Congenital Heart Disease
• c.*18dup Single submitter
• c.*619C>T Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Ala874Thr Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Arg900Gln Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp116Tyr Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Asp318= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Cys421= Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Gln608Arg Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Met730Val Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Met969Thr Single submitter Alagille syndrome due to a JAG1 point mutation
• p.Phe94= Single submitter Isolated Nonsyndromic Congenital Heart Disease
• p.Thr976= Single submitter Alagille syndrome due to a JAG1 point mutation

Benign/Likely benign 69

• c.1007-16A>G Multiple submitters tetralogy of fallot
• c.1120+10A>G Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1349-11T>G Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.1349-8dup Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1396-27TC[6] Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1570-20G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1570-28C>G Multiple submitters
• c.1886-20dup Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2227+17C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2344+15C>G Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.2344+17del Multiple submitters Charcot-Marie-Tooth disease, axonal, Type 2HH
• c.2372+15C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2458+16G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2459-13C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2459-17A>C Multiple submitters deafness, congenital heart defects, and posterior embryotoxon
• c.2573-16C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2917-30A>G Multiple submitters
• c.3048+20A>G Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.388-4G>C Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.439+10G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.694+4TG[8] Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.886+19A>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.-42G>T Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.-458C>T Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• c.*6C>T Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Ala138= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ala480Val Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Ala853= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg1056Ser Multiple submitters Alagille syndrome due to a JAG1 point mutation ⚠
• p.Arg1169= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg165Trp Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg744Gln Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Arg85= Multiple submitters Cardiovascular phenotype
• p.Arg861Gly Multiple submitters Cardiovascular phenotype
• p.Arg937Gln Multiple submitters Charcot-Marie-Tooth disease, axonal, Type 2HH
• p.Asn298= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Asn308= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Asp872= Multiple submitters Cardiovascular phenotype
• p.Cys1002= Multiple submitters Cardiovascular phenotype
• p.Cys54= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys599= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys691= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Gln410= Multiple submitters Cardiovascular phenotype
• p.Gly11= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gly456= Multiple submitters Cardiovascular phenotype
• p.Gly757= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gly90= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Gly914Arg Multiple submitters Alagille syndrome due to a JAG1 point mutation ⚠
• p.His303= Multiple submitters tetralogy of fallot
• p.His602= Multiple submitters Cardiovascular phenotype
• p.Ile526= Multiple submitters Cardiovascular phenotype
• p.Leu1038= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Phe35= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Phe517= Multiple submitters Cardiovascular phenotype
• p.Pro1185= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Pro552Leu Multiple submitters Alagille syndrome due to a JAG1 point mutation ⚠
• p.Pro871Arg Multiple submitters Cardiovascular phenotype
• p.Ser1047= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser463= Multiple submitters Cardiovascular phenotype
• p.Ser794= Multiple submitters Cardiovascular phenotype
• p.Ser98= Multiple submitters Cardiovascular phenotype
• p.Thr1111= Multiple submitters Cardiovascular phenotype
• p.Thr354= Multiple submitters Cardiovascular phenotype
• p.Thr569= Multiple submitters tetralogy of fallot
• p.Thr713= Multiple submitters Cardiovascular phenotype
• p.Thr767= Multiple submitters Cardiovascular phenotype
• p.Val146Ile Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Val176Ile Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Val760= Multiple submitters Cardiovascular phenotype

Likely benign 578

Showing the top 300 by review status; the full set is in the sitemap.

• c.1006+157A>T Multiple submitters
• c.1006+202C>T Multiple submitters
• c.1120+11T>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1349-17A>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1349-19_1349-17del Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1349-20A>G Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1349-7T>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1396-27TC[4] Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1570-17G>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1720+16C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1720+16dup Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1720+17G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1721-19T>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1885+10C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1885+11C>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1885+12T>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1885+13C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.1886-231T>G Multiple submitters
• c.2113+16C>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2227+9A>G Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2228-13T>G Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2344+15C>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2345-10T>G Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2372+13T>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2458+10G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2573-15G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2682+20G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.2916+17G>A Multiple submitters Charcot-Marie-Tooth disease, axonal, Type 2HH
• c.3048+18T>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.3199+13T>C Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.3200-12C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.388-19TTGT[2] Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.388-229C>T Multiple submitters
• c.694+17G>A Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.694+4TG[6] Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.755+7del Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.82-20C>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.82-5G>T Multiple submitters Alagille syndrome due to a JAG1 point mutation
• c.-18GCGGCGC[1] Multiple submitters tetralogy of fallot
• p.Ala1001= Multiple submitters Cardiovascular phenotype
• p.Ala1175= Multiple submitters Cardiovascular phenotype
• p.Ala418= Multiple submitters Cardiovascular phenotype
• p.Ala424= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ala833= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ala88= Multiple submitters Cardiovascular phenotype
• p.Ala891= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg1097= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg1116= Multiple submitters Cardiovascular phenotype
• p.Arg130= Multiple submitters Cardiovascular phenotype
• p.Arg184= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg348Lys Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg64= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg683= Multiple submitters Cardiovascular phenotype
• p.Arg683His Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Arg843= Multiple submitters Cardiovascular phenotype
• p.Arg9= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn1187= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn394= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn423= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn446= Multiple submitters Cardiovascular phenotype
• p.Asn469= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn51= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn536= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn597= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asn751Ser Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Asp1159= Multiple submitters Cardiovascular phenotype
• p.Asp1180= Multiple submitters Cardiovascular phenotype
• p.Asp448= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Asp461= Multiple submitters Cardiovascular phenotype
• p.Asp565= Multiple submitters Cardiovascular phenotype
• p.Asp951= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys271= Multiple submitters Cardiovascular phenotype
• p.Cys560= Multiple submitters Cardiovascular phenotype
• p.Cys615= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys786= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Cys855= Multiple submitters Cardiovascular phenotype
• p.Cys863= Multiple submitters Cardiovascular phenotype
• p.Gln1200= Multiple submitters Cardiovascular phenotype
• p.Gln403= Multiple submitters Cardiovascular phenotype
• p.Gln942= Multiple submitters Cardiovascular phenotype
• p.Gln955= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Glu1003= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Glu417= Multiple submitters Cardiovascular phenotype
• p.Glu723= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Glu977= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Gly1044= Multiple submitters Cardiovascular phenotype
• p.Gly175= Multiple submitters Cardiovascular phenotype
• p.Gly289= Multiple submitters Cardiovascular phenotype
• p.Gly647= Multiple submitters Cardiovascular phenotype
• p.Gly733Ala Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.His1013= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.His273= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.His385= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.His627= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.His850= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.His908= Multiple submitters Cardiovascular phenotype
• p.His978= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ile1000= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ile102= Multiple submitters Cardiovascular phenotype
• p.Ile1049= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ile1136= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ile120= Multiple submitters Cardiovascular phenotype
• p.Ile839= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Leu109= Multiple submitters Cardiovascular phenotype
• p.Leu134= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Leu16= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Leu17= Multiple submitters Cardiovascular phenotype
• p.Leu40= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Leu430= Multiple submitters Cardiovascular phenotype
• p.Leu455= Multiple submitters Cardiovascular phenotype
• p.Leu512= Multiple submitters Cardiovascular phenotype
• p.Leu524= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Leu903= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Lys1137Arg Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro1027= Multiple submitters Cardiovascular phenotype
• p.Pro1099= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro1099Leu Multiple submitters Cardiovascular phenotype
• p.Pro227= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro325= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro331= Multiple submitters deafness, congenital heart defects, and posterior embryotoxon
• p.Pro364= Multiple submitters Cardiovascular phenotype
• p.Pro440= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro750= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Pro810= Multiple submitters Cardiovascular phenotype
• p.Pro815= Multiple submitters Isolated Nonsyndromic Congenital Heart Disease
• p.Pro943= Multiple submitters Cardiovascular phenotype
• p.Ser156= Multiple submitters Cardiovascular phenotype
• p.Ser158= Multiple submitters Cardiovascular phenotype
• p.Ser244= Multiple submitters Cardiovascular phenotype
• p.Ser313= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser41= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser545= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser595= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Ser909= Multiple submitters Cardiovascular phenotype
• p.Ser96= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1103= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1133= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1177= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1189= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1191= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr1197= Multiple submitters Cardiovascular phenotype
• p.Thr145= Multiple submitters Cardiovascular phenotype
• p.Thr186= Multiple submitters Cardiovascular phenotype
• p.Thr315= Multiple submitters Cardiovascular phenotype
• p.Thr570= Multiple submitters Cardiovascular phenotype
• p.Thr6= Multiple submitters Cardiovascular phenotype
• p.Thr73= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr739= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Thr834= Multiple submitters Cardiovascular phenotype
• p.Tyr191= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Tyr625= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Tyr999= Multiple submitters Cardiovascular phenotype
• p.Val101= Multiple submitters Cardiovascular phenotype
• p.Val1076= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Val1079= Multiple submitters Alagille syndrome due to a JAG1 point mutation
• p.Val422= Multiple submitters Cardiovascular phenotype
• p.Val45= Multiple submitters Cardiovascular phenotype
• p.Val798= Multiple submitters Cardiovascular phenotype
• c.1006+10C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1006+12A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1006+13A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1006+16T>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1006+7G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1007-12del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1120+18C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1120+252A>G Single submitter
• c.1120+305A>G Single submitter
• c.1120+7C>T Single submitter
• c.1121-14_1121-10del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1121-14T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1121-205C>T Single submitter
• c.1121-20C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1234+21_1234+22del Single submitter
• c.1235-18A>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1348+19A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1349-11T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1349-16C>G Single submitter
• c.1349-18G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1349-19T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1349-23A>C Single submitter
• c.1395+14T>C Single submitter
• c.1395+17T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1395+9del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-10C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-15C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-15C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-16C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-17C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-27TC[3] Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-5dup Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-9_1396-7del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-9C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1396-9C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1569+12C>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1569+17C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1570-16T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1570-17G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1570-7T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1720+14C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1720+15C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1720+172G>T Single submitter
• c.1721-17C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-18C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-18C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1721-7C>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1885+10C>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1885+17C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1885+18G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1885+272G>A Single submitter
• c.1885+9C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1886-18C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1886-4A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1886-8T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1886-9G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1999+17_1999+18del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.1999+173A>G Single submitter
• c.1999+20G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2000-11T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2000-13C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2000-17C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2000-190_2000-188dup Single submitter
• c.2113+16C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2114-10T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2114-18T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2114-4C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2227+14C>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2227+18G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2227+18G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2227+7T>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2228-12C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2228-15G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2228-18T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2228-19G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2344+11T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2344+15C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2344+16C>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2344+16C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2344+16C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2344+9C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2345-13C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2345-14T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2345-14T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2345-17T>A Single submitter
• c.2345-18_2345-17delinsAA Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2345-18G>A Single submitter
• c.2345-20A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+13T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+15C>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+7G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2372+80GA[3] Single submitter
• c.2373-15T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2373-16G>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2373-20G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2373-7T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2458+15C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2458+16G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2458+18C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2458+40C>T Single submitter
• c.2459-12C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2459-15del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2459-18G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2459-345C>T Single submitter
• c.2572+11C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2572+14G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2572+17T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2572+194C>G Single submitter
• c.2572+281C>T Single submitter
• c.2572+7G>A Single submitter
• c.2572+9G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2573-10C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2573-16_2573-7del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2573-20C>T Single submitter
• c.2573-49C>T Single submitter
• c.2573-6T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2682+15C>A Single submitter
• c.2682+18_2682+31del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2682+19C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2682+20G>C Single submitter
• c.2682+7C>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2682+8A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2683-12G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2683-17C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+10A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+12C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+13del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+16T>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+17_2916+20del Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2916+18T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2917-20G>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2917-21_2917-15dup Single submitter Alagille syndrome due to a JAG1 point mutation
• c.2917-8C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3048+17T>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3048+30_3048+32del Single submitter
• c.3049-4C>T Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3199+16G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3199+17A>G Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3199+20A>C Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3200-13G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3200-15G>A Single submitter Alagille syndrome due to a JAG1 point mutation
• c.3200-16T>C Single submitter Alagille syndrome due to a JAG1 point mutation