ClinVar Miner

List of variants in gene PALB2 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 114
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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.3235G>T (p.Ala1079Ser) rs730881878 0.00003
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.2748+2dup rs1370694908 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_024675.3:c.1246_1247insALU
NM_024675.3:c.2098_2099insALU
NM_024675.3:c.2099_2100insALU
NM_024675.3:c.2455_2456insALU
NM_024675.3:c.2913_2914insALU
NM_024675.3:c.3180_3181insALU
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
NM_024675.4(PALB2):c.108+1_108+2insC rs1597101776
NM_024675.4(PALB2):c.108+2_108+12delinsCGGC rs1597101736
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-2A>C rs730881897
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer) rs1567221521
NM_024675.4(PALB2):c.1156del (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.1317dup (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
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>C rs754660432
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1784del (p.Asp595fs) rs2142389365
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1A>C (p.Met1Leu)
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs) rs1567218036
NM_024675.4(PALB2):c.212-1G>A rs1597099910
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.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2514+1G>T
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
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+1_2748+2del rs1966842247
NM_024675.4(PALB2):c.2748+2T>C rs1060499821
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.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>C rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
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.2872C>T (p.Gln958Ter) rs1567213829
NM_024675.4(PALB2):c.2950dup (p.Leu984fs) rs1966800194
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.2997-2A>T rs1555459421
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
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.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-554_3166del
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter) rs1567209835
NM_024675.4(PALB2):c.31del (p.Cys11fs)
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201+1del
NM_024675.4(PALB2):c.3201+3A>C rs876660215
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.3240del (p.Glu1081fs)
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs)
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
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.3350_3350+1delinsC
NM_024675.4(PALB2):c.3351-1G>C rs1597062406
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.3351-2A>T
NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs)
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
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.390_391insT (p.Arg131Ter) rs2142444537
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>C rs515726118
NM_024675.4(PALB2):c.48+1del rs1060499829
NM_024675.4(PALB2):c.48+2T>G rs876659679
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.921del (p.Ala308fs) rs202151522
NM_024675.4(PALB2):c.9_48+118del
PALB2:c.2515-1G>T rs587776417

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