ClinVar Miner

List of variants in gene BAP1 reported as likely pathogenic

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.256-3C>A rs752536342 0.00001
NC_000003.12:g.(?_52404447)_(52408612_?)del
NC_000003.12:g.(?_52405100)_(52405922_?)del
NM_004656.4(BAP1):c.1117-1G>A
NM_004656.4(BAP1):c.1184C>G (p.Ser395Ter)
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.119dup (p.Val43fs)
NM_004656.4(BAP1):c.1204G>T (p.Glu402Ter)
NM_004656.4(BAP1):c.122+1del
NM_004656.4(BAP1):c.122+5G>C rs1578230320
NM_004656.4(BAP1):c.1251-1G>A rs1578221396
NM_004656.4(BAP1):c.1251-1G>C rs1578221396
NM_004656.4(BAP1):c.1251-2A>G rs2153226773
NM_004656.4(BAP1):c.133G>A (p.Gly45Arg) rs1553646045
NM_004656.4(BAP1):c.146T>C (p.Leu49Pro) rs2153228340
NM_004656.4(BAP1):c.1472_1475del (p.Glu491fs)
NM_004656.4(BAP1):c.1588del (p.Val530fs) rs2153226657
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
NM_004656.4(BAP1):c.1730-1G>A rs1559586168
NM_004656.4(BAP1):c.1730-1G>C rs1559586168
NM_004656.4(BAP1):c.1730-2A>G rs2153226523
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) rs1478603808
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
NM_004656.4(BAP1):c.1890+2T>C
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_004656.4(BAP1):c.1984-1G>A rs1553644634
NM_004656.4(BAP1):c.1984-2A>G rs2153226226
NM_004656.4(BAP1):c.1984-3_1999del rs1578218746
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)
NM_004656.4(BAP1):c.2056+1G>A
NM_004656.4(BAP1):c.2056+1G>C rs1578218644
NM_004656.4(BAP1):c.2057-2A>C
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.249_255+15delinsAGACC
NM_004656.4(BAP1):c.254_255+15del rs1559591511
NM_004656.4(BAP1):c.255+1G>A rs1060503750
NM_004656.4(BAP1):c.255+1G>T rs1060503750
NM_004656.4(BAP1):c.256-2A>C rs2153228161
NM_004656.4(BAP1):c.256-2A>G rs2153228161
NM_004656.4(BAP1):c.272dup (p.Cys91fs) rs2153228146
NM_004656.4(BAP1):c.273T>A (p.Cys91Ter)
NM_004656.4(BAP1):c.34C>G (p.Pro12Ala) rs2153228682
NM_004656.4(BAP1):c.358A>T (p.Lys120Ter) rs774573926
NM_004656.4(BAP1):c.37+1G>A
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004656.4(BAP1):c.375+1G>A
NM_004656.4(BAP1):c.375+1G>T rs775451516
NM_004656.4(BAP1):c.375+2T>A rs2153228069
NM_004656.4(BAP1):c.376-1G>A rs2153227978
NM_004656.4(BAP1):c.376-2A>G rs1705203543
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.38-2A>G rs2153228637
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_004656.4(BAP1):c.437+1G>T rs1553645838
NM_004656.4(BAP1):c.437G>C (p.Arg146Thr) rs1705201387
NM_004656.4(BAP1):c.438-1G>A rs2153227879
NM_004656.4(BAP1):c.438-1G>C
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004656.4(BAP1):c.553G>A (p.Gly185Arg) rs2153227788
NM_004656.4(BAP1):c.580+1G>A rs1553645785
NM_004656.4(BAP1):c.580+1G>T rs1553645785
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.581-4_599del
NM_004656.4(BAP1):c.586dup (p.Trp196fs) rs1553645728
NM_004656.4(BAP1):c.592del (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.592dup (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.59_67+1del
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys)
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys) rs868339867
NM_004656.4(BAP1):c.659+1G>T
NM_004656.4(BAP1):c.659+1del rs1064795667
NM_004656.4(BAP1):c.659+2T>G
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.660-74_667del
NM_004656.4(BAP1):c.67+1del rs2153228616
NM_004656.4(BAP1):c.68-2A>C
NM_004656.4(BAP1):c.68-2A>G
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC rs1064792988
NM_004656.4(BAP1):c.687C>A (p.Asn229Lys)
NM_004656.4(BAP1):c.745_783+57delinsTGG
NM_004656.4(BAP1):c.783+1G>A rs1705153755
NM_004656.4(BAP1):c.784-2A>T rs1559589344
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
NM_004656.4(BAP1):c.91G>A (p.Glu31Lys) rs2153228535
NM_004656.4(BAP1):c.932-1G>T rs9848343
NM_004656.4(BAP1):c.932-2A>T rs112194987
NM_004656.4(BAP1):c.932-2_933del rs2153227087
NM_004656.4(BAP1):c.993dup (p.Pro332fs)

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