ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.3350+4A>C rs180177136 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_000016.9:g.(?_23619175)_(23619343_?)dup
NC_000016.9:g.(?_23619175)_(23625422_?)del
NC_000016.9:g.(?_23625315)_(23625422_?)dup
NC_000016.9:g.(?_23632677)_(23637724_?)dup
NC_000016.9:g.(?_23637547)_(23637728_?)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_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.108+2T>G
NM_024675.4(PALB2):c.1356_2586+201del
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.1685-2A>G rs754660432
NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.211+2T>C rs1967098495
NM_024675.4(PALB2):c.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
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.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+2T>C rs1966797789
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-2A>G
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3202-2A>G rs1060499827
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>T rs515726118
PALB2:c.2515-1G>T rs587776417

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