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: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000003.11:g.(?_52439196)_(52439840_?)del
NC_000003.12:g.(?_52404447)_(52408612_?)del
NC_000003.12:g.(?_52405100)_(52405922_?)del
NM_004656.4(BAP1):c.*644del
NM_004656.4(BAP1):c.1117-1G>A rs2153226890
NM_004656.4(BAP1):c.1184C>G (p.Ser395Ter) rs2153226861
NM_004656.4(BAP1):c.119dup (p.Val43fs) rs2471364013
NM_004656.4(BAP1):c.1204G>T (p.Glu402Ter) rs2153226848
NM_004656.4(BAP1):c.122+1del rs2471363943
NM_004656.4(BAP1):c.122+5G>C rs1578230320
NM_004656.4(BAP1):c.123-10_129del
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) rs1559586782
NM_004656.4(BAP1):c.1869del (p.Ser623fs) rs2471324551
NM_004656.4(BAP1):c.1890+2T>C rs2153226429
NM_004656.4(BAP1):c.1983+1G>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.1A>T (p.Met1Leu) rs2153228694
NM_004656.4(BAP1):c.2012del (p.Tyr671fs) rs2471320496
NM_004656.4(BAP1):c.2056+1G>A rs1578218644
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) rs2153228144
NM_004656.4(BAP1):c.299T>C (p.Leu100Pro) rs1705221848
NM_004656.4(BAP1):c.37+1G>A rs1559593339
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.38-2A>G rs2153228637
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_004656.4(BAP1):c.438-1G>A rs2153227879
NM_004656.4(BAP1):c.438-1G>C rs2153227879
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys) rs1705195392
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004656.4(BAP1):c.580+1G>A rs1553645785
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.581-4_599del rs2471347358
NM_004656.4(BAP1):c.592del (p.Glu198fs) rs1205668341
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 rs2471344237
NM_004656.4(BAP1):c.67+1del rs2153228616
NM_004656.4(BAP1):c.68-1G>C
NM_004656.4(BAP1):c.68-2A>C rs2153228558
NM_004656.4(BAP1):c.68-2A>G rs2153228558
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) rs776240891
NM_004656.4(BAP1):c.783+1G>A rs1705153755
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs) rs2471341236
NM_004656.4(BAP1):c.850G>T (p.Glu284Ter)
NM_004656.4(BAP1):c.931+1G>A
NM_004656.4(BAP1):c.932-1G>T rs9848343
NM_004656.4(BAP1):c.932-2A>G rs112194987
NM_004656.4(BAP1):c.932-2A>T rs112194987
NM_004656.4(BAP1):c.932-8_934del
NM_004656.4(BAP1):c.953dup (p.Ser319fs) rs2471337286
NM_004656.4(BAP1):c.993dup (p.Pro332fs) rs1705111763

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.