ClinVar Miner

List of variants in gene BAP1 reported as likely pathogenic for BAP1-related tumor predisposition syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
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.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.1472_1475del (p.Glu491fs)
NM_004656.4(BAP1):c.1730-1G>A rs1559586168
NM_004656.4(BAP1):c.1730-1G>C rs1559586168
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
NM_004656.4(BAP1):c.1890+2T>C
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.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.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>G rs2153228161
NM_004656.4(BAP1):c.273T>A (p.Cys91Ter)
NM_004656.4(BAP1):c.37+1G>A
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004656.4(BAP1):c.375+1G>T rs775451516
NM_004656.4(BAP1):c.375+2T>A rs2153228069
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.422A>G (p.His141Arg) rs1705201896
NM_004656.4(BAP1):c.438-1G>C
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004656.4(BAP1):c.580+1G>A rs1553645785
NM_004656.4(BAP1):c.581-4_599del
NM_004656.4(BAP1):c.592del (p.Glu198fs) rs1205668341
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.783+1G>A rs1705153755
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
NM_004656.4(BAP1):c.932-1G>T rs9848343
NM_004656.4(BAP1):c.932-2A>T rs112194987
NM_004656.4(BAP1):c.993dup (p.Pro332fs)

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