ClinVar Miner

List of variants in gene PALB2 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
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.108+1G>A rs1060499814 0.00001
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.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.2888del (p.Ser963fs) rs587776420 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 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
GRCh37/hg19 16p12.2(chr16:23619185-23619333)x1
GRCh37/hg19 16p12.2(chr16:23640525-23641790)x1
NC_000016.10:g.23603162_(23608013_23614003)del
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.1038_1041del (p.Lys346fs) rs1966999709
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1046del (p.Asn349fs) rs1555461484
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.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) rs1060499815
NM_024675.4(PALB2):c.1135A>T (p.Lys379Ter)
NM_024675.4(PALB2):c.1186dup (p.Cys396fs) rs1555461413
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.1314del (p.Phe440fs) rs515726065
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) rs1597096243
NM_024675.4(PALB2):c.1396_1399dup (p.Gly467fs) rs1966971699
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) rs876659341
NM_024675.4(PALB2):c.1431del (p.Ser478fs) rs587776412
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.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1454_1457del (p.Thr485fs)
NM_024675.4(PALB2):c.1465del (p.Ser489fs) rs1064793220
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter) rs1567220802
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) rs2142412914
NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs) rs1567220758
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) rs587776414
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) rs1064793772
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) rs118203997
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
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.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs) rs1597091425
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1789del (p.Met597fs) rs1555460650
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs) rs1555460584
NM_024675.4(PALB2):c.1965dup (p.Pro656fs) rs1597090596
NM_024675.4(PALB2):c.1988dup (p.Met664fs) rs1966862297
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.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter) rs1567218141
NM_024675.4(PALB2):c.2092del (p.Leu698fs) rs1060499819
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) rs1555460490
NM_024675.4(PALB2):c.211+1G>T rs1555462026
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.2192T>G (p.Leu731Ter) rs1567217898
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.2235del (p.Ala746fs) rs1966858562
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.2275C>T (p.Gln759Ter) rs515726083
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.2298dup (p.Val767fs) rs1555460407
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.2368C>T (p.Gln790Ter) rs886039480
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.2457del (p.Glu820fs) rs1966856088
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) rs1555460323
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
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.2514+2T>C rs1343145658
NM_024675.4(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.4(PALB2):c.2563del (p.Leu855fs) rs1966853795
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) rs1555459999
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.2652_2653delinsT (p.Glu884fs)
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.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer) rs587776418
NM_024675.4(PALB2):c.280G>T (p.Glu94Ter)
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2850del (p.Ser951fs) rs1060499824
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter) rs879254015
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2889_2890del (p.Gly964fs)
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.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) rs886039503
NM_024675.4(PALB2):c.3255dup (p.Arg1086fs) rs1966510490
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
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.3497_3498del (p.Gly1166fs) rs587776427
NM_024675.4(PALB2):c.3497del (p.Gly1166fs) rs180177138
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) rs1555457841
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.48+1G>T rs515726118
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-1del rs1967113484
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.560del (p.Pro187fs) rs1967038226
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.620dup (p.Asp208fs)
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.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.756dup (p.Leu253fs) rs1967023691
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.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.839_840insT (p.Ile281fs) rs1967016153
NM_024675.4(PALB2):c.839del (p.Asn280fs) rs1555461597
NM_024675.4(PALB2):c.844_847del (p.Arg282fs) rs1555461586
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) rs587776408
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
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) rs587776409
PALB2:c.2515-1G>T rs587776417

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