ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887 0.00007
NC_000003.11:g.(?_52436298)_(52443900_?)del
NC_000003.11:g.(?_52439384)_(52442110_?)del
NC_000003.11:g.(?_52441964)_(52443894_?)del
NC_000003.12:g.(?_52399047)_(52409878_?)del
NM_004656.4(BAP1):c.102_109del (p.Asp34fs) rs2153228520
NM_004656.4(BAP1):c.1036del (p.Val346fs) rs1705109295
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter) rs869312757
NM_004656.4(BAP1):c.106C>T (p.Gln36Ter) rs2153228522
NM_004656.4(BAP1):c.1098T>G (p.Tyr366Ter) rs1391804672
NM_004656.4(BAP1):c.1106_1116del (p.Lys368_Ser369insTer)
NM_004656.4(BAP1):c.1110dup (p.Met371fs) rs1578223103
NM_004656.4(BAP1):c.1139_1151del (p.Gly380fs) rs2153226878
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.1182C>G (p.Tyr394Ter) rs1364087255
NM_004656.4(BAP1):c.1185dup (p.Asp396fs) rs1553645136
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.119_120del (p.Gln40fs) rs2153228507
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.1203dup (p.Glu402Ter) rs1553645126
NM_004656.4(BAP1):c.122+1G>A rs1578230334
NM_004656.4(BAP1):c.122+1G>T rs1578230334
NM_004656.4(BAP1):c.1228C>T (p.Gln410Ter)
NM_004656.4(BAP1):c.123-1G>C rs1060503732
NM_004656.4(BAP1):c.125del (p.Pro42fs)
NM_004656.4(BAP1):c.1268_1274del (p.Thr423fs) rs2153226766
NM_004656.4(BAP1):c.1278del (p.Ala428fs)
NM_004656.4(BAP1):c.1282dup (p.Ala428fs)
NM_004656.4(BAP1):c.1313C>A (p.Ser438Ter) rs1443225407
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter) rs1559587104
NM_004656.4(BAP1):c.132T>G (p.Tyr44Ter) rs1265456777
NM_004656.4(BAP1):c.133G>T (p.Gly45Ter) rs1553646045
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs) rs1351986946
NM_004656.4(BAP1):c.1359dup (p.Glu454fs)
NM_004656.4(BAP1):c.1379C>A (p.Ser460Ter) rs1553644949
NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter) rs1553644949
NM_004656.4(BAP1):c.1383dup (p.Pro462fs) rs2153226742
NM_004656.4(BAP1):c.1416del (p.Ser473fs) rs1060503731
NM_004656.4(BAP1):c.1433_1449dup (p.Pro484fs) rs1705050256
NM_004656.4(BAP1):c.1437del (p.Thr480fs) rs869160449
NM_004656.4(BAP1):c.1464del (p.Ser489fs) rs1553644922
NM_004656.4(BAP1):c.1470_1471insA (p.Glu491fs) rs2153226707
NM_004656.4(BAP1):c.1474_1475del (p.Ser492fs) rs1559586782
NM_004656.4(BAP1):c.1478_1479del (p.Thr493fs)
NM_004656.4(BAP1):c.1483_1486del (p.Thr495fs) rs2153226696
NM_004656.4(BAP1):c.14G>A (p.Trp5Ter)
NM_004656.4(BAP1):c.1508dup (p.Asn504fs)
NM_004656.4(BAP1):c.1515_1516del (p.Pro506fs)
NM_004656.4(BAP1):c.1544del (p.Asn515fs) rs2153226675
NM_004656.4(BAP1):c.1565_1566del (p.Pro522fs) rs1705043129
NM_004656.4(BAP1):c.156G>A (p.Trp52Ter)
NM_004656.4(BAP1):c.1584dup (p.Lys529fs) rs1705042101
NM_004656.4(BAP1):c.1586del (p.Lys529fs)
NM_004656.4(BAP1):c.1588del (p.Val530fs) rs2153226657
NM_004656.4(BAP1):c.15G>A (p.Trp5Ter) rs916069743
NM_004656.4(BAP1):c.1649del (p.Val550fs)
NM_004656.4(BAP1):c.165del (p.Glu55fs)
NM_004656.4(BAP1):c.1661del (p.Gly554fs) rs2153226608
NM_004656.4(BAP1):c.1695dup (p.Glu566Ter) rs1553644815
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.1729+1del rs1559586374
NM_004656.4(BAP1):c.1729+1dup rs1559586374
NM_004656.4(BAP1):c.1729G>T (p.Glu577Ter) rs1705034786
NM_004656.4(BAP1):c.172_179del (p.Ser58fs)
NM_004656.4(BAP1):c.1730-2A>G rs2153226523
NM_004656.4(BAP1):c.175del (p.Arg59fs) rs1705238769
NM_004656.4(BAP1):c.1766_1770del (p.Ile589fs) rs2153226499
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.1778del (p.Gln593fs) rs2153226493
NM_004656.4(BAP1):c.1786del (p.Ser596fs) rs2153226489
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.1793del (p.Pro598fs) rs2153226486
NM_004656.4(BAP1):c.181A>T (p.Lys61Ter) rs1060503744
NM_004656.4(BAP1):c.1831_1834del (p.Glu611fs) rs1705022971
NM_004656.4(BAP1):c.1833_1834del (p.Lys612fs) rs1705022971
NM_004656.4(BAP1):c.1835del (p.Lys612fs) rs1060503743
NM_004656.4(BAP1):c.1842del (p.Met615fs)
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.1883C>A (p.Ser628Ter) rs2153226434
NM_004656.4(BAP1):c.188_189dup (p.Thr64fs) rs1705237553
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_004656.4(BAP1):c.189_198del (p.Thr64fs)
NM_004656.4(BAP1):c.1916_1917del (p.Val639fs) rs2153226324
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter) rs1578219056
NM_004656.4(BAP1):c.1971del (p.Lys658fs)
NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter) rs1553644659
NM_004656.4(BAP1):c.1986del (p.Ile662fs) rs1705001036
NM_004656.4(BAP1):c.1991del (p.Asp664fs) rs2153226220
NM_004656.4(BAP1):c.1993C>T (p.Gln665Ter) rs1578218761
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)
NM_004656.4(BAP1):c.2017G>T (p.Glu673Ter) rs2153226204
NM_004656.4(BAP1):c.2034dup (p.Ile679fs)
NM_004656.4(BAP1):c.203del (p.Asp68fs) rs2153228310
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.238_239del (p.Met80fs) rs1705235390
NM_004656.4(BAP1):c.250del (p.His84fs) rs2153228278
NM_004656.4(BAP1):c.260_261del (p.Ile87fs)
NM_004656.4(BAP1):c.269_270del (p.Ser90fs) rs2153228147
NM_004656.4(BAP1):c.273del (p.Cys91fs)
NM_004656.4(BAP1):c.38-1G>T
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
NM_004656.4(BAP1):c.436dup (p.Arg146fs) rs2153227933
NM_004656.4(BAP1):c.437+1G>A rs1553645838
NM_004656.4(BAP1):c.437+1G>T rs1553645838
NM_004656.4(BAP1):c.452dup (p.His151fs) rs2153227868
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.463A>T (p.Lys155Ter) rs1705196773
NM_004656.4(BAP1):c.49dup (p.Leu17fs) rs2153228628
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.527del (p.Ile176fs)
NM_004656.4(BAP1):c.542_543del (p.Leu180_Phe181insTer)
NM_004656.4(BAP1):c.544G>T (p.Glu182Ter) rs1060503726
NM_004656.4(BAP1):c.555del (p.Gly185_Leu186insTer) rs2153227786
NM_004656.4(BAP1):c.580+2T>C
NM_004656.4(BAP1):c.581-1G>A rs1553645729
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.581-2A>G rs1430317959
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.592del (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.592dup (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.593dup (p.Asp199fs) rs2153227660
NM_004656.4(BAP1):c.604T>C (p.Trp202Arg) rs2153227653
NM_004656.4(BAP1):c.605G>A (p.Trp202Ter) rs2153227652
NM_004656.4(BAP1):c.606G>A (p.Trp202Ter)
NM_004656.4(BAP1):c.606_607delinsTT (p.Trp202_Thr203delinsCysSer) rs2153227651
NM_004656.4(BAP1):c.619del (p.Arg207fs) rs1578225864
NM_004656.4(BAP1):c.625dup (p.Val209fs)
NM_004656.4(BAP1):c.639_643dup (p.Gly215fs)
NM_004656.4(BAP1):c.639dup (p.Ile214fs) rs1578225793
NM_004656.4(BAP1):c.644del (p.Gly215fs) rs1060503727
NM_004656.4(BAP1):c.659+1G>C
NM_004656.4(BAP1):c.65_66delinsAA (p.Phe22Ter)
NM_004656.4(BAP1):c.65del (p.Phe22fs) rs1060503735
NM_004656.4(BAP1):c.669C>A (p.Tyr223Ter) rs2153227498
NM_004656.4(BAP1):c.706dup (p.Asp236fs) rs1578225176
NM_004656.4(BAP1):c.721dup (p.Tyr241fs) rs2153227460
NM_004656.4(BAP1):c.727del (p.Ala243fs)
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) rs776240891
NM_004656.4(BAP1):c.758dup (p.Thr254fs) rs1553645591
NM_004656.4(BAP1):c.760_763del (p.Thr254fs) rs2153227431
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.783+1del
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
NM_004656.4(BAP1):c.794_795dup (p.Thr266Ter)
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter) rs387906849
NM_004656.4(BAP1):c.799_800del (p.Gln267fs) rs2153227280
NM_004656.4(BAP1):c.79del (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.79dup (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.824del (p.Lys275fs) rs1559589252
NM_004656.4(BAP1):c.830_831del (p.Gln277fs) rs1327490224
NM_004656.4(BAP1):c.831dup (p.Glu278fs) rs1553645497
NM_004656.4(BAP1):c.837dup (p.Gln280fs) rs1553645492
NM_004656.4(BAP1):c.848dup (p.Glu284fs)
NM_004656.4(BAP1):c.852del (p.Glu284fs) rs1705139320
NM_004656.4(BAP1):c.855dup (p.Lys286fs) rs1553645486
NM_004656.4(BAP1):c.877_878del (p.Pro293fs)
NM_004656.4(BAP1):c.898_899del (p.Arg300fs) rs1578224341
NM_004656.4(BAP1):c.898_917del (p.Arg300fs) rs1578224271
NM_004656.4(BAP1):c.91del (p.Glu31fs) rs1553646294
NM_004656.4(BAP1):c.944dup (p.Ala316fs) rs2153227082
NM_004656.4(BAP1):c.959dup (p.Cys320fs) rs1578223503
NM_004656.4(BAP1):c.991_995del (p.Lys331fs) rs1705111517

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