ClinVar Miner

List of variants in gene PALB2 reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1179del (p.Lys393fs) rs1567221417
NM_024675.4(PALB2):c.1206del (p.Leu403fs) rs876658431
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) rs1597096243
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1972del (p.Glu658fs) rs1555460548
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2235del (p.Ala746fs) rs1966858562
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) rs587778587
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) rs1224428422
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2T>A (p.Met1Lys)
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3114-1_3201+2del rs2142298541
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) rs1021662947
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3263del (p.Pro1088fs) rs1966509881
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.49-1del rs1967113484
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.609del (p.Lys203fs)
NM_024675.4(PALB2):c.659del (p.Ser220fs)
NM_024675.4(PALB2):c.745_749del (p.Pro249fs) rs876659326
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.839_840insT (p.Ile281fs) rs1967016153
NM_024675.4(PALB2):c.886dup (p.Met296fs) rs587776408
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498

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.