ClinVar Miner

List of variants in gene PALB2 reported as likely pathogenic for Familial cancer of breast

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Gene type:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.212-2A>G rs730881879 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.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) rs755263466 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.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3201+1G>T rs587776423 0.00001
NM_024675.4(PALB2):c.3350+4A>C rs180177136 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 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_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NC_000016.10:g.(?_23613994)_(23624104_?)del
NC_000016.10:g.(?_23613994)_(23626407_?)del
NC_000016.10:g.(?_23621352)_(23621488_?)del
NC_000016.10:g.(?_23621352)_(23624104_?)dup
NC_000016.10:g.(?_23621362)_(23623130_?)del
NC_000016.10:g.23626399T>C rs1060502787
NC_000016.9:g.(?_23619175)_(23619343_?)dup
NC_000016.9:g.(?_23619175)_(23625422_?)del
NC_000016.9:g.(?_23625315)_(23625422_?)dup
NC_000016.9:g.(?_23632663)_(23634471_?)del
NC_000016.9:g.(?_23632677)_(23637724_?)dup
NC_000016.9:g.(?_23637537)_(23641810_?)dup
NC_000016.9:g.(?_23637547)_(23637728_?)del
NC_000016.9:g.(?_23638673)_(23641020_?)del
NC_000016.9:g.(?_23640324)_(23646511_?)del
NM_024675.3(PALB2):c.1685-?_2748+?dup
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.3114-?_3201+?dup88
NM_024675.3(PALB2):c.3114-?_3350+?del
NM_024675.3(PALB2):c.3350+1090_*1278dup
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.108+1_108+2insC rs1597101776
NM_024675.4(PALB2):c.108+2T>C rs2142459705
NM_024675.4(PALB2):c.108+2T>G
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-1G>A
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.109-2A>T
NM_024675.4(PALB2):c.1103del (p.Asn368fs) rs1555461451
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) rs1060499815
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
NM_024675.4(PALB2):c.1126del (p.Ser376fs) rs2142425187
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806
NM_024675.4(PALB2):c.1132_1136dup (p.Lys379fs)
NM_024675.4(PALB2):c.1179del (p.Lys393fs) rs1567221417
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) rs1555461386
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.1356_2586+201del
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs) rs1555461280
NM_024675.4(PALB2):c.1485del (p.Asp496fs) rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
NM_024675.4(PALB2):c.163_164dup (p.Gln55fs)
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) rs515726073
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1684+2T>A
NM_024675.4(PALB2):c.1685-1G>A rs1057520645
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC
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.1725del (p.Ser574_Trp575insTer) rs1555460682
NM_024675.4(PALB2):c.1784del (p.Asp595fs) rs2142389365
NM_024675.4(PALB2):c.1802del (p.Lys601fs)
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) rs876660475
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.1849_1850insCG (p.Glu617fs)
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.18_22del (p.Lys7fs)
NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1924dup (p.Met642fs)
NM_024675.4(PALB2):c.1933del (p.Glu645fs)
NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs) rs1555460564
NM_024675.4(PALB2):c.1947del (p.Glu650fs)
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs) rs1966862408
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs) rs2142383242
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs) rs2142380816
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.211+1G>C
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.211+2T>C rs1967098495
NM_024675.4(PALB2):c.2117_2129del (p.Thr706fs) rs1597090031
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.212-2A>T rs730881879
NM_024675.4(PALB2):c.2156del (p.Pro719fs) rs876660193
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.224_228del (p.Lys75fs) rs1064795640
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2272delinsGA (p.Pro758fs)
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2298dup (p.Val767fs) rs1555460407
NM_024675.4(PALB2):c.2317del (p.Thr773fs)
NM_024675.4(PALB2):c.2329delinsCTGTC (p.Asp777fs)
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs) rs2142374907
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) rs1060502768
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.2405del (p.Cys802fs) rs1966856604
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2509_2514+9del
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) rs750650768
NM_024675.4(PALB2):c.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2515-17_2522del
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2515-2A>C
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.4(PALB2):c.2575del (p.Ser859fs) rs2142367858
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
NM_024675.4(PALB2):c.2586+1_2586+3delinsTTG
NM_024675.4(PALB2):c.2587-1G>A
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
NM_024675.4(PALB2):c.261_265delinsA (p.His87fs)
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) rs876660643
NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs) rs587781662
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) rs587781457
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) rs1555459925
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2748+2T>A
NM_024675.4(PALB2):c.2748+2T>C rs1060499821
NM_024675.4(PALB2):c.2749-1G>A rs1060502804
NM_024675.4(PALB2):c.2749-1G>C rs1060502804
NM_024675.4(PALB2):c.2749-1G>T rs1060502804
NM_024675.4(PALB2):c.2749-2A>C rs1555459747
NM_024675.4(PALB2):c.2749-2A>G rs1555459747
NM_024675.4(PALB2):c.2749-3_2749-1delinsAA
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2759del (p.Leu920fs)
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly) rs1597082876
NM_024675.4(PALB2):c.2816del (p.Leu939fs)
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>A
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2835-1G>T
NM_024675.4(PALB2):c.2835-2A>C rs886039613
NM_024675.4(PALB2):c.2835-2A>G
NM_024675.4(PALB2):c.2835-70_2860del
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) rs1219715328
NM_024675.4(PALB2):c.2938del (p.Ser980fs) rs1555459540
NM_024675.4(PALB2):c.293dup (p.Thr99fs) rs1967057228
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs) rs875989792
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs) rs1555459528
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) rs786203775
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+2T>C rs1966797789
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.2997-1G>C
NM_024675.4(PALB2):c.2997-2A>G
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs) rs1597079711
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+1G>C
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-2A>G
NM_024675.4(PALB2):c.3114-57_3120del
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) rs1555461835
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs) rs1555458828
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.4(PALB2):c.3175del (p.Val1059fs) rs2142299058
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter) rs2142298948
NM_024675.4(PALB2):c.3201+1G>A
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile) rs1555458809
NM_024675.4(PALB2):c.3202-15_3209del
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3202-2A>G rs1060499827
NM_024675.4(PALB2):c.3202-2_3207del
NM_024675.4(PALB2):c.3202-34_3305del
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter) rs62625271
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
NM_024675.4(PALB2):c.3350+1G>A rs864622192
NM_024675.4(PALB2):c.3350+1G>C
NM_024675.4(PALB2):c.3350+2C>A
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3351-1G>C rs1597062406
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3418del (p.Trp1140fs) rs2142254289
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs) rs2142253658
NM_024675.4(PALB2):c.3467_3468del (p.Asp1156fs)
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) rs1597062038
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter) rs1597061983
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) rs773829275
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs) rs1567204932
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.3G>T (p.Met1Ile)
NM_024675.4(PALB2):c.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>C rs515726118
NM_024675.4(PALB2):c.48+1G>T rs515726118
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-2A>G
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.500_513del (p.Asp167fs) rs876660719
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.522_523del (p.Arg175fs) rs875989789
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter) rs1597098943
NM_024675.4(PALB2):c.573_595dup (p.Leu199delinsGlnTer)
NM_024675.4(PALB2):c.577dup (p.Thr193fs) rs875989790
NM_024675.4(PALB2):c.57_58del (p.Lys20fs)
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter) rs2142461082
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.625del (p.Ser209fs) rs1597098739
NM_024675.4(PALB2):c.666_669del (p.Leu222fs) rs1555461683
NM_024675.4(PALB2):c.693dup (p.Gly232fs) rs875989791
NM_024675.4(PALB2):c.703dup (p.Thr235fs) rs1967027806
NM_024675.4(PALB2):c.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.76del (p.Arg26fs) rs1597101885
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) rs1555461574
NM_024675.4(PALB2):c.885_886insG (p.Met296fs) rs1597097936
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter) rs1060499831
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.953_954del (p.Ser318fs) rs1060502800
NM_024675.4(PALB2):c.956del (p.Ser319fs)
NM_024675.4(PALB2):c.9_48+118del
PALB2:c.2515-1G>T rs587776417

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