ClinVar Miner

List of variants in gene PALB2 reported as likely pathogenic by GeneDx

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Total variants: 65
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HGVS dbSNP gnomAD frequency
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.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.1048del (p.Gln350fs) rs886039738
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.1163dup (p.Leu389fs) rs869312772
NM_024675.4(PALB2):c.117_120dup (p.Ala41fs) rs1555462076
NM_024675.4(PALB2):c.1183del (p.Ser395fs) rs1555461415
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer) rs1555461385
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs) rs879253960
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) rs886039620
NM_024675.4(PALB2):c.1538del (p.Thr513fs) rs879253892
NM_024675.4(PALB2):c.1650del (p.Lys550fs) rs886039624
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.1714del (p.Ser572fs) rs879254121
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs) rs1555460671
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) rs886039747
NM_024675.4(PALB2):c.1845del (p.Asp616fs) rs1555460627
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.2029del (p.Val677fs) rs886041984
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.224_228del (p.Lys75fs) rs1064795640
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2619del (p.Ser873fs) rs1555460007
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) rs876660643
NM_024675.4(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2749-1G>C rs1060502804
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.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2835-2A>C rs886039613
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs) rs886039645
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201+2dup rs786203164
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) rs886039634
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs) rs879254060
NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs) rs886039635
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) rs876660574
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) rs886039686
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter) rs879254197
NM_024675.4(PALB2):c.548del (p.Ser183fs) rs1064795953
NM_024675.4(PALB2):c.613G>T (p.Glu205Ter) rs1567222636
NM_024675.4(PALB2):c.707dup (p.Leu237fs) rs876658192
NM_024675.4(PALB2):c.770del (p.Gly257fs) rs1555461634
NM_024675.4(PALB2):c.774_775insC (p.Ser259fs) rs1555461628
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.841del (p.Ile281fs) rs1555461595
NM_024675.4(PALB2):c.901_907del (p.Asp301fs) rs1555461551

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