ClinVar Miner

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

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Total variants: 61
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HGVS dbSNP
BAP1, 1-BP DEL, 1832C
BAP1, 4-BP DEL, 2008TCAC
NC_000003.11:g.(?_52436298)_(52443900_?)del
NM_000059.3(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_004656.4(BAP1):c.1110dup (p.Met371fs)
NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter) rs1553645164
NM_004656.4(BAP1):c.1185dup (p.Asp396fs) rs1553645136
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.11del (p.Gly4fs) rs1559593389
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer) rs1553645117
NM_004656.4(BAP1):c.1305del (p.Gln436fs) rs587776877
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.1379C>A (p.Ser460Ter) rs1553644949
NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter)
NM_004656.4(BAP1):c.1416del (p.Ser473fs) rs1060503731
NM_004656.4(BAP1):c.1464del (p.Ser489fs) rs1553644922
NM_004656.4(BAP1):c.1472_1473AG[1] (p.Ser492fs) rs1559586782
NM_004656.4(BAP1):c.15G>A (p.Trp5Ter)
NM_004656.4(BAP1):c.1654del (p.Asp552fs) rs397509414
NM_004656.4(BAP1):c.1695dup (p.Glu566Ter) rs1553644815
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.1729+1G>A
NM_004656.4(BAP1):c.1729+1del rs1559586374
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.181A>T (p.Lys61Ter) rs1060503744
NM_004656.4(BAP1):c.1835del (p.Lys612fs) rs1060503743
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)
NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter) rs1553644659
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) rs375129361
NM_004656.4(BAP1):c.438-2A>G rs587776879
NM_004656.4(BAP1):c.510dup (p.Val171fs) rs1553645809
NM_004656.4(BAP1):c.517dup (p.Tyr173fs) rs1553645806
NM_004656.4(BAP1):c.519T>G (p.Tyr173Ter) rs143901408
NM_004656.4(BAP1):c.544G>T (p.Glu182Ter) rs1060503726
NM_004656.4(BAP1):c.587G>A (p.Trp196Ter) rs1553645725
NM_004656.4(BAP1):c.592G>T (p.Glu198Ter) rs1553645720
NM_004656.4(BAP1):c.639dup (p.Ile214fs)
NM_004656.4(BAP1):c.644del (p.Gly215fs) rs1060503727
NM_004656.4(BAP1):c.65del (p.Phe22fs) rs1060503735
NM_004656.4(BAP1):c.706dup (p.Asp236fs)
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) rs776240891
NM_004656.4(BAP1):c.758dup (p.Thr254fs) rs1553645591
NM_004656.4(BAP1):c.778C>T (p.Gln260Ter) rs864622592
NM_004656.4(BAP1):c.78_79del (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter) rs387906849
NM_004656.4(BAP1):c.824del (p.Lys275fs) rs1559589252
NM_004656.4(BAP1):c.831dup (p.Glu278fs) rs1553645497
NM_004656.4(BAP1):c.837dup (p.Gln280fs) rs1553645492
NM_004656.4(BAP1):c.898_917del (p.Arg300fs)
NM_004656.4(BAP1):c.91del (p.Glu31fs) rs1553646294
NM_004656.4(BAP1):c.959dup (p.Cys320fs)
NM_005591.3(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_024675.3(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.3(PALB2):c.2931dup (p.Val978fs) rs587782570

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