ClinVar Miner

List of variants in gene BAP1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887 0.00007
NM_004656.4(BAP1):c.438-2A>G rs587776879 0.00001
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter) rs869312757
NM_004656.4(BAP1):c.1088del (p.Asn363fs)
NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter) rs1553645164
NM_004656.4(BAP1):c.1169dup (p.Pro391fs) rs1578222261
NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter) rs1553645146
NM_004656.4(BAP1):c.1177C>T (p.Gln393Ter)
NM_004656.4(BAP1):c.1182C>G (p.Tyr394Ter) rs1364087255
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1203dup (p.Glu402Ter) rs1553645126
NM_004656.4(BAP1):c.1213G>T (p.Glu405Ter) rs1705082679
NM_004656.4(BAP1):c.122+1G>A rs1578230334
NM_004656.4(BAP1):c.127dup (p.Val43fs) rs1553646061
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter) rs1559587104
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs) rs1351986946
NM_004656.4(BAP1):c.1375del (p.Leu459fs)
NM_004656.4(BAP1):c.1381del (p.Ile461fs) rs1559586965
NM_004656.4(BAP1):c.1474_1475del (p.Ser492fs) rs1559586782
NM_004656.4(BAP1):c.1483dup (p.Thr495fs)
NM_004656.4(BAP1):c.14G>A (p.Trp5Ter)
NM_004656.4(BAP1):c.1513_1514del (p.Ser505fs) rs1578220681
NM_004656.4(BAP1):c.1523del (p.Arg508fs)
NM_004656.4(BAP1):c.1526C>A (p.Ser509Ter)
NM_004656.4(BAP1):c.155G>A (p.Trp52Ter) rs1559591728
NM_004656.4(BAP1):c.1565_1566del (p.Pro522fs) rs1705043129
NM_004656.4(BAP1):c.1587_1594delinsCACACCTCCCACA (p.Lys529fs) rs1578220452
NM_004656.4(BAP1):c.1596del (p.Phe532fs)
NM_004656.4(BAP1):c.1652delinsATC (p.Arg551fs)
NM_004656.4(BAP1):c.1695dup (p.Glu566Ter) rs1553644815
NM_004656.4(BAP1):c.169del (p.Arg57fs)
NM_004656.4(BAP1):c.1709_1710insC (p.Ser571fs)
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.1729+1G>A rs1578220161
NM_004656.4(BAP1):c.1766_1767insTCAAT (p.Gly591fs)
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.1786del (p.Ser596fs) rs2153226489
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.1801A>T (p.Lys601Ter)
NM_004656.4(BAP1):c.1835del (p.Lys612fs) rs1060503743
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
NM_004656.4(BAP1):c.1881_1882delinsG (p.Tyr627_Ser628delinsTer) rs1705020162
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs) rs1559585465
NM_004656.4(BAP1):c.1916_1917del (p.Val639fs) rs2153226324
NM_004656.4(BAP1):c.1918G>T (p.Glu640Ter)
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter) rs1578219056
NM_004656.4(BAP1):c.1993C>T (p.Gln665Ter) rs1578218761
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.258_262del (p.Ile87fs)
NM_004656.4(BAP1):c.261dup (p.Pro88fs) rs1578227605
NM_004656.4(BAP1):c.293del (p.Ser98fs)
NM_004656.4(BAP1):c.2T>C (p.Met1Thr) rs1467015377
NM_004656.4(BAP1):c.320del (p.Asp107fs) rs1578227520
NM_004656.4(BAP1):c.334_335del (p.Leu112fs)
NM_004656.4(BAP1):c.359dup (p.Ser123fs)
NM_004656.4(BAP1):c.406G>T (p.Glu136Ter)
NM_004656.4(BAP1):c.422del (p.His141fs)
NM_004656.4(BAP1):c.436dup (p.Arg146fs) rs2153227933
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.458del (p.Pro153fs)
NM_004656.4(BAP1):c.50_53del (p.Leu17fs)
NM_004656.4(BAP1):c.510dup (p.Val171fs) rs1553645809
NM_004656.4(BAP1):c.517dup (p.Tyr173fs) rs1553645806
NM_004656.4(BAP1):c.519_520insA (p.Val174fs) rs1578226444
NM_004656.4(BAP1):c.542_543del (p.Leu180_Phe181insTer)
NM_004656.4(BAP1):c.587G>A (p.Trp196Ter) rs1553645725
NM_004656.4(BAP1):c.588G>A (p.Trp196Ter)
NM_004656.4(BAP1):c.58_59insTG (p.Glu20fs)
NM_004656.4(BAP1):c.592G>T (p.Glu198Ter) rs1553645720
NM_004656.4(BAP1):c.592del (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.592dup (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.619del (p.Arg207fs) rs1578225864
NM_004656.4(BAP1):c.625dup (p.Val209fs)
NM_004656.4(BAP1):c.639dup (p.Ile214fs) rs1578225793
NM_004656.4(BAP1):c.644del (p.Gly215fs) rs1060503727
NM_004656.4(BAP1):c.65del (p.Phe22fs) rs1060503735
NM_004656.4(BAP1):c.754_758dup (p.Gln253fs)
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) rs776240891
NM_004656.4(BAP1):c.771_772insTACTA (p.Ala258delinsTyrTer) rs1553645586
NM_004656.4(BAP1):c.778C>T (p.Gln260Ter) rs864622592
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter) rs387906849
NM_004656.4(BAP1):c.79del (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.79dup (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.805G>T (p.Glu269Ter) rs1553645509
NM_004656.4(BAP1):c.831dup (p.Glu278fs) rs1553645497
NM_004656.4(BAP1):c.837dup (p.Gln280fs) rs1553645492
NM_004656.4(BAP1):c.855dup (p.Lys286fs) rs1553645486
NM_004656.4(BAP1):c.88del (p.Glu30fs)
NM_004656.4(BAP1):c.898_899del (p.Arg300fs) rs1578224341
NM_004656.4(BAP1):c.956C>G (p.Ser319Ter) rs1553645329

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