List of variants in gene JAG1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 73

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del)	rs863223661
NM_000214.3(JAG1):c.1047dup (p.Ser350fs)	rs863223670
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs)	rs876661111
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs)	rs1555828843
NM_000214.3(JAG1):c.1205dup (p.Gln403fs)	rs35615084
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs)
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.1615C>T (p.Gln539Ter)	rs1555828577
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter)	rs886041868
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer)	rs876661126
NM_000214.3(JAG1):c.1890del (p.Asn631fs)
NM_000214.3(JAG1):c.1899_1900del (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.1955dup (p.Cys653fs)	rs2122604461
NM_000214.3(JAG1):c.2039dup (p.Thr681fs)	rs1555828250
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter)	rs876661142
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)	rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter)	rs863223680
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000214.3(JAG1):c.2173dup (p.Asp725fs)	rs1568794128
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.2257dup (p.Cys753fs)	rs863223672
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)	rs755427292
NM_000214.3(JAG1):c.2370del (p.Cys791fs)	rs886042050
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)	rs533306015
NM_000214.3(JAG1):c.2418del (p.Cys806fs)	rs876661165
NM_000214.3(JAG1):c.2458+2_2458+5del	rs1568793232
NM_000214.3(JAG1):c.2465del (p.Asn822fs)	rs863223673
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter)
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter)	rs876661061
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs)	rs863223674
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer)	rs1085307595
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)	rs1555827789
NM_000214.3(JAG1):c.269_270del (p.Gly90fs)	rs863223667
NM_000214.3(JAG1):c.270dup (p.Pro91fs)	rs863223667
NM_000214.3(JAG1):c.2803G>T (p.Glu935Ter)	rs753161584
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.2968A>T (p.Lys990Ter)	rs876661182
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs)	rs863223676
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.311del (p.Gly104fs)	rs886041782
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)	rs1555827653
NM_000214.3(JAG1):c.349dup (p.Arg117fs)	rs886041727
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)	rs886039724
NM_000214.3(JAG1):c.438_439+2del	rs2122632102
NM_000214.3(JAG1):c.439+1G>A	rs863223648
NM_000214.3(JAG1):c.537dup (p.Glu180Ter)	rs863223663
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter)	rs863223678
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.Arg231fs)	rs876660978
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)	rs876660980
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter)	rs1131695
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
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.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.962_964dup (p.Cys322Ter)	rs1600185804
NM_000214.3(JAG1):c.974_975del (p.Pro325fs)	rs863223669

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.