ClinVar Miner

List of variants in gene PALB2 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
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.3113G>A (p.Trp1038Ter) rs180177132 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.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter) rs587782446 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) rs764509489 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) rs769240800 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) rs1555461488
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) rs1060502788
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.1067_1068insTA (p.Lys356fs) rs1064795168
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) rs1060499815
NM_024675.4(PALB2):c.1135A>T (p.Lys379Ter)
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) rs1555461366
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.1291_1292del (p.His432fs) rs786203057
NM_024675.4(PALB2):c.12dup (p.Pro5fs) rs879254062
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter) rs1057520653
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter) rs1057520736
NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter) rs1057520736
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1465del (p.Ser489fs) rs1064793220
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) rs2142412914
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) rs1064793772
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) rs515726073
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1789del (p.Met597fs) rs1555460650
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1965dup (p.Pro656fs) rs1597090596
NM_024675.4(PALB2):c.2006del (p.Glu669fs) rs587778584
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.204del (p.Lys68fs) rs1555462031
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) rs749602688
NM_024675.4(PALB2):c.2092del (p.Leu698fs) rs1060499819
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) rs1555460490
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.2154del (p.Arg718fs) rs730881867
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) rs730881888
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2275del (p.Gln759fs) rs1064793827
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) rs876658170
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2328del (p.Phe776fs) rs1966857445
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs) rs587780211
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs) rs1966856749
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2479del (p.Thr827fs) rs1597088811
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) rs587778587
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) rs730881868
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) rs876658983
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) rs1060502726
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) rs587781457
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.280G>T (p.Glu94Ter)
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter) rs879254015
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2931dup (p.Val978fs) rs587782570
NM_024675.4(PALB2):c.2938del (p.Ser980fs) rs1555459540
NM_024675.4(PALB2):c.2950del (p.Leu984fs) rs1966800194
NM_024675.4(PALB2):c.2961dup (p.Gln988fs) rs879253986
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) rs786203775
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) rs180177131
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3193dup (p.Ser1065fs)
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) rs886039503
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_024675.4(PALB2):c.3311del (p.Gly1104fs) rs1060499828
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter) rs1555457878
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) rs876660465
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) rs730881884
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.502dup (p.Ser168fs) rs1555461777
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.538G>T (p.Glu180Ter) rs750782778
NM_024675.4(PALB2):c.544del (p.Ile182fs) rs886039614
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) rs587782531
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) rs730881905
NM_024675.4(PALB2):c.697del (p.Val233fs) rs180177090
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.786del (p.Glu263fs) rs730881870
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.844_847del (p.Arg282fs) rs1555461586
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.4(PALB2):c.886dup (p.Met296fs) rs587776408
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) rs1060502772
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.948del (p.Thr317fs) rs730881871

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.