8314[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 899906	NM_004656.4(BAP1):c.*1164G>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346103	NM_004656.4(BAP1):c.*1164G>C	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 346104	NM_004656.4(BAP1):c.*1064C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346105	NM_004656.4(BAP1):c.*974C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 901077	NM_004656.4(BAP1):c.*876C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 901078	NM_004656.4(BAP1):c.*847C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346106	NM_004656.4(BAP1):c.*830T>C	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 901079	NM_004656.4(BAP1):c.*808T>C	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 901080	NM_004656.4(BAP1):c.*770T>C	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 901626	NM_004656.4(BAP1):c.*750A>G	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346107	NM_004656.4(BAP1):c.*697G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346108	NM_004656.4(BAP1):c.*643G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome +1 more	GBenign/Likely benign
Select item 3045859	NM_004656.4(BAP1):c.*641C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related condition	GUncertain significance
Select item 901627	NM_004656.4(BAP1):c.*573G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 901628	NM_004656.4(BAP1):c.*557C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346109	NM_004656.4(BAP1):c.*552C>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346110	NM_004656.4(BAP1):c.*485G>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346111	NM_004656.4(BAP1):c.*444C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 903575	NM_004656.4(BAP1):c.*441G>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 903576	NM_004656.4(BAP1):c.*392C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 903577	NM_004656.4(BAP1):c.*385A>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 903578	NM_004656.4(BAP1):c.*350C>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 903579	NM_004656.4(BAP1):c.*300A>G	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 903580	NM_004656.4(BAP1):c.*292G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346112	NM_004656.4(BAP1):c.*222G>C	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346113	NM_004656.4(BAP1):c.*60C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 346114	NM_004656.4(BAP1):c.*45C>G	BAP1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 346115	NM_004656.4(BAP1):c.*37G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 899974	NM_004656.4(BAP1):c.*36C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 630476	NM_004656.4(BAP1):c.*20T>C	BAP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2692076	NM_004656.4(BAP1):c.*17C>G	BAP1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 922334	NM_004656.4(BAP1):c.*15G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 539946	NC_000003.11:g.(?_52436298)_(52443900_?)dup	BAP1	Duplication	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1331980	NM_004656.4(BAP1):c.*3A>G	BAP1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 629893	NM_004656.4(BAP1):c.2189G>A (p.Ter730=)	BAP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1787368	NM_004656.4(BAP1):c.2188T>C (p.Ter730Arg)	BAP1	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919672	NM_004656.4(BAP1):c.2188T>A (p.Ter730Arg)	BAP1	Single nucleotide variant (stop lost)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 2450442	NM_004656.4(BAP1):c.2187G>A (p.Gln729=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 857610	NM_004656.4(BAP1):c.2187G>T (p.Gln729His)	BAP1 (Q729H)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2450439	NM_004656.4(BAP1):c.2186A>T (p.Gln729Leu)	BAP1 (Q711L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 820842	NM_004656.4(BAP1):c.2185C>T (p.Gln729Ter)	BAP1 (Q729*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1397331	NM_004656.4(BAP1):c.2183G>A (p.Arg728His)	BAP1 (R728H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629894	NM_004656.4(BAP1):c.2183G>C (p.Arg728Pro)	BAP1 (R728P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 489631	NM_004656.4(BAP1):c.2183G>T (p.Arg728Leu)	BAP1 (R728L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 1062466	NM_004656.4(BAP1):c.2182C>T (p.Arg728Cys)	BAP1 (R728C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 925760	NM_004656.4(BAP1):c.2181G>T (p.Lys727Asn)	BAP1 (K727N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1976367	NM_004656.4(BAP1):c.2180A>G (p.Lys727Arg)	BAP1 (K709R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2875899	NM_004656.4(BAP1):c.2177C>T (p.Ala726Val)	BAP1 (A708V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1787189	NM_004656.4(BAP1):c.2176G>A (p.Ala726Thr)	BAP1 (A708T +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 472693	NM_004656.4(BAP1):c.2175G>A (p.Lys725=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1579513	NM_004656.4(BAP1):c.2172C>T (p.Tyr724=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2450445	NM_004656.4(BAP1):c.2171A>G (p.Tyr724Cys)	BAP1 (Y706C +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1787029	NM_004656.4(BAP1):c.2169C>T (p.Pro723=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 797454	NM_004656.4(BAP1):c.2169C>G (p.Pro723=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 629990	NM_004656.4(BAP1):c.2168C>T (p.Pro723Leu)	BAP1 (P723L)	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 539915	NM_004656.4(BAP1):c.2167C>T (p.Pro723Ser)	BAP1 (P723S)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1786980	NM_004656.4(BAP1):c.2166C>G (p.Arg722=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 705758	NM_004656.4(BAP1):c.2166C>T (p.Arg722=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 630790	NM_004656.4(BAP1):c.2166C>A (p.Arg722=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 854263	NM_004656.4(BAP1):c.2165G>A (p.Arg722His)	BAP1 (R722H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2585677	NM_004656.4(BAP1):c.2164C>G (p.Arg722Gly)	BAP1 (R722G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 569962	NM_004656.4(BAP1):c.2164C>T (p.Arg722Cys)	BAP1 (R722C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 490846	NM_004656.4(BAP1):c.2162C>G (p.Ser721Cys)	BAP1 (S721C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1786902	NM_004656.4(BAP1):c.2160C>T (p.Arg720=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +1 more	GLikely benign
Select item 1786899	NM_004656.4(BAP1):c.2160C>G (p.Arg720=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2826602	NM_004656.4(BAP1):c.2159G>T (p.Arg720Leu)	BAP1 (R702L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 651100	NM_004656.4(BAP1):c.2159G>A (p.Arg720His)	BAP1 (R720H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629895	NM_004656.4(BAP1):c.2158C>T (p.Arg720Cys)	BAP1 (R720C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1786799	NM_004656.4(BAP1):c.2154G>A (p.Arg718=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1173084	NM_004656.4(BAP1):c.2153G>A (p.Arg718Gln)	BAP1 (R718Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1025377	NM_004656.4(BAP1):c.2152C>T (p.Arg718Trp)	BAP1 (R718W)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 631009	NM_004656.4(BAP1):c.2152C>A (p.Arg718=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +1 more	GLikely benign
Select item 2450421	NM_004656.4(BAP1):c.2151G>A (p.Arg717=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1320717	NM_004656.4(BAP1):c.2150G>A (p.Arg717Gln)	BAP1 (R717Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1320379	NM_004656.4(BAP1):c.2149C>G (p.Arg717Gly)	BAP1 (R717G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957687	NM_004656.4(BAP1):c.2149C>T (p.Arg717Trp)	BAP1 (R717W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1044088	NM_004656.4(BAP1):c.2146G>C (p.Asp716His)	BAP1 (D716H)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 385113	NM_004656.4(BAP1):c.2145T>C (p.Pro715=)	BAP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1786616	NM_004656.4(BAP1):c.2143C>A (p.Pro715Thr)	BAP1 (P697T +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 960959	NM_004656.4(BAP1):c.2143C>G (p.Pro715Ala)	BAP1 (P715A)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2710943	NM_004656.4(BAP1):c.2142G>C (p.Lys714Asn)	BAP1 (K714N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1654977	NM_004656.4(BAP1):c.2142G>A (p.Lys714=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 490845	NM_004656.4(BAP1):c.2138G>A (p.Arg713Gln)	BAP1 (R713Q)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1017969	NM_004656.4(BAP1):c.2137C>T (p.Arg713Trp)	BAP1 (R713W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 1391525	NM_004656.4(BAP1):c.2135A>C (p.Gln712Pro)	BAP1 (Q712P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1786443	NM_004656.4(BAP1):c.2133G>A (p.Lys711=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1355496	NM_004656.4(BAP1):c.2133G>T (p.Lys711Asn)	BAP1 (K711N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 923155	NM_004656.4(BAP1):c.2127C>T (p.Leu709=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +1 more	GLikely benign
Select item 1002809	NM_004656.4(BAP1):c.2124_2125delinsTA (p.Leu709Ile)	BAP1 (L709I)	Indel (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1786300	NM_004656.4(BAP1):c.2124G>T (p.Arg708=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1786298	NM_004656.4(BAP1):c.2124G>C (p.Arg708=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 630523	NM_004656.4(BAP1):c.2124G>A (p.Arg708=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1786273	NM_004656.4(BAP1):c.2123G>A (p.Arg708Gln)	BAP1 (R690Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 539899	NM_004656.4(BAP1):c.2122C>T (p.Arg708Trp)	BAP1 (R708W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1786249	NM_004656.4(BAP1):c.2121C>T (p.Gly707=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +1 more	GLikely benign
Select item 820655	NM_004656.4(BAP1):c.2119G>A (p.Gly707Ser)	BAP1 (G707S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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