ClinVar for Gene (Select 8314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224486	NM_004656.4(BAP1):c.968C>T (p.Ala323Val)	BAP1 (A305V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224485	NM_004656.4(BAP1):c.933T>A (p.Asp311Glu)	BAP1 (D293E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224484	NM_004656.4(BAP1):c.931+5T>C	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224483	NM_004656.4(BAP1):c.902C>G (p.Ala301Gly)	BAP1 (A283G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224482	NM_004656.4(BAP1):c.879G>T (p.Pro293=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224480	NM_004656.4(BAP1):c.794T>C (p.Val265Ala)	BAP1 (V247A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224479	NM_004656.4(BAP1):c.765A>T (p.Val255=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224478	NM_004656.4(BAP1):c.753C>G (p.Asn251Lys)	BAP1 (N233K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224477	NM_004656.4(BAP1):c.665C>T (p.Pro222Leu)	BAP1 (P222L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224476	NM_004656.4(BAP1):c.653C>G (p.Thr218Ser)	BAP1 (T218S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224474	NM_004656.4(BAP1):c.531A>C (p.Thr177=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224473	NM_004656.4(BAP1):c.523C>T (p.Pro175Ser)	BAP1 (P175S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224472	NM_004656.4(BAP1):c.51G>T (p.Leu17=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224471	NM_004656.4(BAP1):c.515G>C (p.Ser172Thr)	BAP1 (S172T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224470	NM_004656.4(BAP1):c.485T>C (p.Val162Ala)	BAP1 (V162A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224469	NM_004656.4(BAP1):c.47C>T (p.Thr16Ile)	BAP1 (T16I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224468	NM_004656.4(BAP1):c.424A>G (p.Asn142Asp)	BAP1 (N142D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224467	NM_004656.4(BAP1):c.405G>T (p.Pro135=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224466	NM_004656.4(BAP1):c.395G>T (p.Gly132Val)	BAP1 (G132V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224465	NM_004656.4(BAP1):c.38-3C>T	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224464	NM_004656.4(BAP1):c.375+4G>C	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224463	NM_004656.4(BAP1):c.325G>T (p.Gly109Ter)	BAP1 (G109*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3224462	NM_004656.4(BAP1):c.322C>G (p.Leu108Val)	BAP1 (L108V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224461	NM_004656.4(BAP1):c.237C>A (p.Asn79Lys)	BAP1 (N79K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224460	NM_004656.4(BAP1):c.236A>G (p.Asn79Ser)	BAP1 (N79S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224459	NM_004656.4(BAP1):c.232A>G (p.Asn78Asp)	BAP1 (N78D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224458	NM_004656.4(BAP1):c.2167C>A (p.Pro723Thr)	BAP1 (P705T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224456	NM_004656.4(BAP1):c.2136G>A (p.Gln712=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224455	NM_004656.4(BAP1):c.2088C>G (p.Ile696Met)	BAP1 (I678M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224454	NM_004656.4(BAP1):c.2055A>G (p.Glu685=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224453	NM_004656.4(BAP1):c.2049T>G (p.Ala683=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224452	NM_004656.4(BAP1):c.2043G>C (p.Met681Ile)	BAP1 (M663I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224451	NM_004656.4(BAP1):c.2028C>T (p.Cys676=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224450	NM_004656.4(BAP1):c.2005C>G (p.His669Asp)	BAP1 (H651D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224449	NM_004656.4(BAP1):c.-1G>T	BAP1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224447	NM_004656.4(BAP1):c.1878A>G (p.Lys626=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224446	NM_004656.4(BAP1):c.1863C>G (p.Pro621=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224445	NM_004656.4(BAP1):c.1849A>G (p.Arg617Gly)	BAP1 (R599G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224444	NM_004656.4(BAP1):c.1829G>A (p.Arg610Lys)	BAP1 (R592K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224443	NM_004656.4(BAP1):c.1823A>G (p.Asp608Gly)	BAP1 (D590G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224442	NM_004656.4(BAP1):c.1815A>G (p.Glu605=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224441	NM_004656.4(BAP1):c.1804G>C (p.Glu602Gln)	BAP1 (E584Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224440	NM_004656.4(BAP1):c.169C>T (p.Arg57Trp)	BAP1 (R57W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224438	NM_004656.4(BAP1):c.1682T>C (p.Leu561Pro)	BAP1 (L543P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224437	NM_004656.4(BAP1):c.1680C>T (p.Gly560=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224436	NM_004656.4(BAP1):c.1656T>A (p.Asp552Glu)	BAP1 (D534E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224435	NM_004656.4(BAP1):c.1593T>C (p.Leu531=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224432	NM_004656.4(BAP1):c.1474A>G (p.Ser492Gly)	BAP1 (S474G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224431	NM_004656.4(BAP1):c.1442_1443del (p.His481fs)	BAP1 (H463fs +1 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3224429	NM_004656.4(BAP1):c.1327A>G (p.Asn443Asp)	BAP1 (N425D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224428	NM_004656.4(BAP1):c.1269_1270del (p.Gly424fs)	BAP1 (G406fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3224427	NM_004656.4(BAP1):c.1244C>T (p.Ala415Val)	BAP1 (A397V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224426	NM_004656.4(BAP1):c.1239C>G (p.Asn413Lys)	BAP1 (N395K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224425	NM_004656.4(BAP1):c.1201_1212dup (p.Asp404_Glu405insTyrGluAspAsp)	BAP1	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224424	NM_004656.4(BAP1):c.1174C>G (p.Gln392Glu)	BAP1 (Q374E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224423	NM_004656.4(BAP1):c.1076C>T (p.Ala359Val)	BAP1 (A341V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224422	NM_004656.4(BAP1):c.1059T>C (p.Ile353=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224421	NM_004656.4(BAP1):c.1054C>T (p.Pro352Ser)	BAP1 (P334S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224420	NM_004656.4(BAP1):c.1035G>T (p.Gly345=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3148669	NM_004656.4(BAP1):c.1934del (p.Asn645fs)	BAP1 (N645fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 3132975	NM_004656.4(BAP1):c.507C>G (p.His169Gln)	BAP1 (H169Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3132974	NM_004656.4(BAP1):c.287T>C (p.Leu96Ser)	BAP1 (L96S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3132973	NM_004656.4(BAP1):c.1753T>G (p.Ser585Ala)	BAP1 (S567A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3132972	NM_004656.4(BAP1):c.1711A>T (p.Ser571Cys)	BAP1 (S571C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3067664	NM_004656.4(BAP1):c.2109_2110dup (p.Val704fs)	BAP1 (V686fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3052998	NM_004656.4(BAP1):c.665_666del (p.Pro222fs)	BAP1 (P222fs)	Deletion (frameshift variant +1 more)	BAP1-related disorder	GPathogenic
Select item 3045859	NM_004656.4(BAP1):c.*641C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related disorder	GUncertain significance
Select item 3029581	NM_004656.4(BAP1):c.1762C>T (p.Pro588Ser)	BAP1 (P570S +1 more)	Single nucleotide variant (missense variant)	BAP1-related disorder	GUncertain significance
Select item 3023787	NM_004656.4(BAP1):c.37+40G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3023496	NM_004656.4(BAP1):c.184G>A (p.Val62Ile)	BAP1 (V62I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3023138	NM_004656.4(BAP1):c.659+7G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3021538	NM_004656.4(BAP1):c.438-16C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3021074	NM_004656.4(BAP1):c.1892A>C (p.Glu631Ala)	BAP1 (E613A +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3019678	NM_004656.4(BAP1):c.335T>G (p.Leu112Arg)	BAP1 (L112R)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3018142	NM_004656.4(BAP1):c.1826G>A (p.Ser609Asn)	BAP1 (S609N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3016858	NM_004656.4(BAP1):c.967G>T (p.Ala323Ser)	BAP1 (A305S +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3015665	NM_004656.4(BAP1):c.783+7G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3014698	NM_004656.4(BAP1):c.321C>G (p.Asp107Glu)	BAP1 (D107E)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3011630	NM_004656.4(BAP1):c.1235C>A (p.Thr412Asn)	BAP1 (T412N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3011545	NM_004656.4(BAP1):c.783+20G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3010162	NM_004656.4(BAP1):c.1891-16T>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3009485	NM_004656.4(BAP1):c.783+10C>G	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3007535	NM_004656.4(BAP1):c.1448A>G (p.Gln483Arg)	BAP1 (Q465R +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3007139	NM_004656.4(BAP1):c.1531A>C (p.Ile511Leu)	BAP1 (I493L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3006034	NM_004656.4(BAP1):c.1890+14G>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3005172	NM_004656.4(BAP1):c.1729+13C>G	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3004970	NM_004656.4(BAP1):c.1732G>T (p.Gly578Cys)	BAP1 (G560C +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3004474	NM_004656.4(BAP1):c.600G>C (p.Glu200Asp)	BAP1 (E200D)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3001880	NM_004656.4(BAP1):c.322C>T (p.Leu108=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3001471	NM_004656.4(BAP1):c.771G>A (p.Glu257=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2999141	NM_004656.4(BAP1):c.493A>T (p.Met165Leu)	BAP1 (M165L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2998471	NM_004656.4(BAP1):c.1117-4C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2996162	NM_004656.4(BAP1):c.1317G>A (p.Val439=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2993740	NM_004656.4(BAP1):c.1586del (p.Lys529fs)	BAP1 (K511fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2992911	NM_004656.4(BAP1):c.122+8G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2989337	NM_004656.4(BAP1):c.437+9G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2984557	NM_004656.4(BAP1):c.1318C>G (p.Leu440Val)	BAP1 (L422V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2983695	NM_004656.4(BAP1):c.1985T>A (p.Ile662Asn)	BAP1 (I644N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2982145	NM_004656.4(BAP1):c.931+19C>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign

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