ClinVar for Gene (Select 8450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3054859	NM_001079872.2(CUL4B):c.366C>G (p.Ser122=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3054838	NM_001079872.2(CUL4B):c.1803G>A (p.Lys601=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3054270	NM_001079872.2(CUL4B):c.1791G>T (p.Leu597=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3054156	NM_001079872.2(CUL4B):c.1800A>G (p.Gly600=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3051800	NM_001079872.2(CUL4B):c.2310C>G (p.Gly770=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3049511	NM_001079872.2(CUL4B):c.1212A>G (p.Glu404=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3049355	NM_001079872.2(CUL4B):c.1674A>G (p.Lys558=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3048591	NM_001079872.2(CUL4B):c.1182A>G (p.Glu394=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3047882	NM_001079872.2(CUL4B):c.1449T>C (p.Phe483=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3046736	NM_001079872.2(CUL4B):c.1650T>C (p.Asp550=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3044905	NM_001079872.2(CUL4B):c.849C>A (p.Ile283=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3032873	NM_001079872.2(CUL4B):c.708A>G (p.Ala236=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3031647	NM_001079872.2(CUL4B):c.2169G>A (p.Lys723=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3031646	NM_001079872.2(CUL4B):c.2010G>A (p.Pro670=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3029037	NM_001079872.2(CUL4B):c.411G>A (p.Gln137=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related condition	GLikely benign
Select item 3028897	NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)	CUL4B (Y232* +3 more)	Duplication (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 3026676	NM_001079872.2(CUL4B):c.1335C>T (p.Asn445=)	CUL4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026268	NM_001079872.2(CUL4B):c.215C>T (p.Pro72Leu)	CUL4B, LOC113845788 (P72L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	MBNL3, PBDC1 +488 more	Copy number gain	not provided	GPathogenic
Select item 3024245	NM_001079872.2(CUL4B):c.516del (p.Lys172fs)	CUL4B, LOC113845788 (K172fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 3005073	NM_001079872.2(CUL4B):c.777-11A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2986032	NM_001079872.2(CUL4B):c.1256+18A>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2973993	NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2919053	NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2905976	NM_001079872.2(CUL4B):c.1071G>A (p.Leu357=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2894364	NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type +1 more	GBenign/Likely benign
Select item 2892426	NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)	CUL4B, LOC113845788 (S180del +2 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2887634	NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)	CUL4B (M314L +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2885218	NM_001079872.2(CUL4B):c.1939-4A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2878426	NM_001079872.2(CUL4B):c.1636+11C>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2874660	NM_001079872.2(CUL4B):c.556+9G>C	CUL4B, LOC113845788	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2870477	NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro)	CUL4B (A16P)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2868144	NM_001079872.2(CUL4B):c.672+13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2856284	NM_001079872.2(CUL4B):c.69C>T (p.Ala23=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2827929	NM_001079872.2(CUL4B):c.1853-13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2818516	NM_001079872.2(CUL4B):c.15T>C (p.Gly5=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2768204	NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)	CUL4B, LOC113845788 (D92N +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2760544	NM_001079872.2(CUL4B):c.1939-19T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2739968	NM_001079872.2(CUL4B):c.573A>G (p.Pro191=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2725563	NM_001079872.2(CUL4B):c.2322T>G (p.Val774=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2723754	NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)	CUL4B, LOC113845788 (F108L +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2715651	NM_001079872.2(CUL4B):c.2592+3A>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2713413	NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2712473	NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)	CUL4B, LOC113845788 (S166P +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2708826	NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)	CUL4B (I289F +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2702101	NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)	CUL4B, LOC113845788 (E119* +2 more)	Single nucleotide variant (nonsense)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2683923	NM_001079872.2(CUL4B):c.1444-1G>A	CUL4B	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2662297	NM_001079872.2(CUL4B):c.1939-6_1939-3delinsA	CUL4B	Indel (intron variant)	not provided	GUncertain significance
Select item 2662039	NM_001079872.2(CUL4B):c.314A>T (p.Asp105Val)	CUL4B, LOC113845788 (D105V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661331	NM_001079872.2(CUL4B):c.904A>G (p.Met302Val)	CUL4B (M124V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661330	NM_001079872.2(CUL4B):c.949C>T (p.His317Tyr)	CUL4B (H139Y +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2637967	NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)	CUL4B (D608N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2637939	NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)	CUL4B, LOC113845788 (S66Y +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2634030	NM_003588.4(CUL4B):c.20G>A (p.Gly7Glu)	CUL4B (G7E)	Single nucleotide variant (missense variant)	CUL4B-related condition	GUncertain significance
Select item 2632856	NM_001079872.2(CUL4B):c.953T>G (p.Ile318Ser)	CUL4B (I140S +3 more)	Single nucleotide variant (missense variant)	CUL4B-related condition	GUncertain significance
Select item 2630972	NM_001079872.2(CUL4B):c.1367C>T (p.Ser456Phe)	CUL4B (S278F +3 more)	Single nucleotide variant (missense variant)	CUL4B-related condition	GUncertain significance
Select item 2627360	NM_001079872.2(CUL4B):c.1173+18C>G	CUL4B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2626970	NM_001079872.2(CUL4B):c.2607G>C (p.Lys869Asn)	CUL4B (K691N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2626897	NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)	CUL4B, LOC113845788 (T61fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2585498	NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg)	CUL4B, LOC113845788 (S98R +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2582550	NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)	CUL4B, LOC113845788 (A114G +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2580008	NM_001079872.2(CUL4B):c.2158G>A (p.Glu720Lys)	CUL4B (E542K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576852	NM_001079872.2(CUL4B):c.2300T>C (p.Leu767Ser)	CUL4B (L589S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574888	NM_001079872.2(CUL4B):c.111G>C (p.Lys37Asn)	CUL4B, LOC113845788 (K37N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574328	NM_001079872.2(CUL4B):c.1798G>A (p.Gly600Arg)	CUL4B (G422R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506462	NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)	CUL4B	Deletion (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2504793	NM_001079872.2(CUL4B):c.2677T>A (p.Tyr893Asn)	CUL4B (Y715N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502162	NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2482265	NM_001079872.2(CUL4B):c.389C>A (p.Thr130Asn)	CUL4B, LOC113845788 (T130N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444279	NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)	CUL4B (R624W +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2441956	NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)	CUL4B (P126L +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2440628	NM_001079872.2(CUL4B):c.1852+3A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2440627	NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)	CUL4B (D152H +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2440625	NM_001079872.2(CUL4B):c.920+9G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type +1 more	GConflicting classifications of pathogenicity
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	ATP1B4, AKAP14 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2417286	NM_001079872.2(CUL4B):c.954T>C (p.Ile318=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2229676	NM_001079872.2(CUL4B):c.47C>A (p.Ala16Asp)	CUL4B, LOC113845788 (A34D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202433	NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related condition +1 more	GBenign/Likely benign
Select item 2198993	NM_001079872.2(CUL4B):c.2046+6A>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2179238	NM_001079872.2(CUL4B):c.557-11A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2163397	NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)	CUL4B (A166T +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2157188	NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)	CUL4B (I658V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2149903	NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2148840	NM_001079872.2(CUL4B):c.776+13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2141907	NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2141066	NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)	CUL4B (M675V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type +1 more	GBenign/Likely benign
Select item 2138711	NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)	CUL4B (L329Q +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2132785	NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)	CUL4B (K619I +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2132132	NM_001079872.2(CUL4B):c.984A>G (p.Thr328=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2126757	NM_001079872.2(CUL4B):c.1173+16G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2115193	NM_001079872.2(CUL4B):c.243G>T (p.Ser81=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign

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