11019[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153075	GRCh38/hg38 4p14(chr4:39222108-39491610)x3	KLB, LIAS +9 more	Copy number gain	See cases	GBenign
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 1242166	NC_000004.12:g.39458708G>A	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224751	NC_000004.12:g.39458732C>G	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204365	NC_000004.12:g.39458793C>A	RPL9, LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294864	NC_000004.12:g.39458870C>G	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300810	NC_000004.12:g.39458888T>C	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232707	NC_000004.12:g.39458952G>A	LIAS, LOC112939935	Single nucleotide variant	not provided	GBenign
Select item 379118	NM_006859.4(LIAS):c.-45T>C	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 138120	NM_006859.4(LIAS):c.-35C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 138121	NM_006859.4(LIAS):c.-32A>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 378083	NM_006859.4(LIAS):c.-29C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 472875	NC_000004.11:g.(?_39460718)_(39478755_?)dup	LIAS, LOC112939935 +1 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 518144	NM_006859.4(LIAS):c.-12C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 597605	NM_006859.4(LIAS):c.-1A>G	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1443884	NM_006859.4(LIAS):c.1A>C (p.Met1Leu)	LIAS, LOC112939935 (M1L)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2120654	NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)	LIAS, LOC112939935 (S2P)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2163648	NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)	LIAS, LOC112939935 (S2F)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1487647	NM_006859.4(LIAS):c.5C>G (p.Ser2Cys)	LIAS, LOC112939935 (S2C)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 472883	NM_006859.4(LIAS):c.7C>T (p.Leu3=)	LIAS, LOC112939935	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1422709	NM_006859.4(LIAS):c.10C>T (p.Arg4Cys)	LIAS, LOC112939935 (R4C)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 859391	NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)	LIAS, LOC112939935 (R4L)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 933263	NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)	LIAS, LOC112939935 (C5S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1024031	NM_006859.4(LIAS):c.15C>G (p.Cys5Trp)	LIAS, LOC112939935 (C5W)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1524002	NM_006859.4(LIAS):c.17G>A (p.Gly6Glu)	LIAS, LOC112939935 (G6E)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1096249	NM_006859.4(LIAS):c.18G>A (p.Gly6=)	LIAS, LOC112939935	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1347824	NM_006859.4(LIAS):c.19G>A (p.Asp7Asn)	LIAS, LOC112939935 (D7N)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 859054	NM_006859.4(LIAS):c.20A>T (p.Asp7Val)	LIAS, LOC112939935 (D7V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 656689	NM_006859.4(LIAS):c.23C>T (p.Ala8Val)	LIAS, LOC112939935 (A8V)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 1092829	NM_006859.4(LIAS):c.24A>G (p.Ala8=)	LIAS, LOC112939935	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1362885	NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)	LIAS, LOC112939935 (A9S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 1933238	NM_006859.4(LIAS):c.26C>T (p.Ala9Val)	LIAS, LOC112939935 (A9V)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 790418	NM_006859.4(LIAS):c.27C>A (p.Ala9=)	LIAS, LOC112939935	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2071097	NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)	LIAS, LOC112939935 (R10C)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 540084	NM_006859.4(LIAS):c.29G>A (p.Arg10His)	LIAS, LOC112939935 (R10H)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 206037	NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)	LIAS, LOC112939935 (T11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2242435	NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)	LIAS, LOC112939935 (T11S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 567187	NM_006859.4(LIAS):c.35T>A (p.Leu12Gln)	LIAS, LOC112939935 (L12Q)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 575602	NM_006859.4(LIAS):c.37G>A (p.Gly13Arg)	LIAS, LOC112939935 (G13R)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1412533	NM_006859.4(LIAS):c.38G>A (p.Gly13Glu)	LIAS, LOC112939935 (G13E)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1431407	NM_006859.4(LIAS):c.44G>C (p.Arg15Pro)	LIAS, LOC112939935 (R15P)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1397139	NM_006859.4(LIAS):c.44G>A (p.Arg15Gln)	LIAS, LOC112939935 (R15Q)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1118194	NM_006859.4(LIAS):c.45+7G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2918897	NM_006859.4(LIAS):c.45+10G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2780730	NM_006859.4(LIAS):c.45+12G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 597822	NM_006859.4(LIAS):c.45+15G>A	LIAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2079802	NM_006859.4(LIAS):c.45+18C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2841297	NM_006859.4(LIAS):c.45+19G>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1662690	NM_006859.4(LIAS):c.45+20G>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 674516	NM_006859.4(LIAS):c.45+161C>T	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237935	NM_006859.4(LIAS):c.46-238dup	LIAS	Duplication (intron variant)	not provided	GBenign
Select item 1205675	NM_006859.4(LIAS):c.46-239_46-238dup	LIAS	Duplication (intron variant)	not provided	GLikely benign
Select item 1296846	NM_006859.4(LIAS):c.46-238del	LIAS	Deletion (intron variant)	not provided	GBenign
Select item 1669879	NM_006859.4(LIAS):c.46-17A>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1643032	NM_006859.4(LIAS):c.46-16T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2818053	NM_006859.4(LIAS):c.46-13A>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1080298	NM_006859.4(LIAS):c.46-5T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1021868	NM_006859.4(LIAS):c.50T>C (p.Phe17Ser)	LIAS (F17S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 945963	NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)	LIAS (R19T)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 378084	NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)	LIAS (R19S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2157442	NM_006859.4(LIAS):c.58T>C (p.Tyr20His)	LIAS (Y20H)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 540088	NM_006859.4(LIAS):c.64dup (p.Cys22fs)	LIAS (C22fs)	Duplication (frameshift variant)	Lipoic acid synthetase deficiency	GPathogenic
Select item 472880	NM_006859.4(LIAS):c.60T>C (p.Tyr20=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency +1 more	GLikely benign
Select item 839857	NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)	LIAS (C22W)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 733207	NM_006859.4(LIAS):c.69C>T (p.Ser23=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1464345	NM_006859.4(LIAS):c.70C>G (p.Pro24Ala)	LIAS (P24A)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1380107	NM_006859.4(LIAS):c.73G>C (p.Val25Leu)	LIAS (V25L)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1030164	NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)	LIAS (R26G)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GConflicting classifications of pathogenicity
Select item 570168	NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)	LIAS (P27L)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 757621	NM_006859.4(LIAS):c.81G>A (p.Pro27=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 206043	NM_006859.4(LIAS):c.89C>T (p.Ser30Phe)	LIAS (S30F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2881734	NM_006859.4(LIAS):c.93G>A (p.Leu31=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 817587	NM_006859.4(LIAS):c.99dup (p.Lys34Ter)	LIAS (K34*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2165560	NM_006859.4(LIAS):c.107dup (p.Glu37fs)	LIAS (E37fs)	Duplication (frameshift variant)	Lipoic acid synthetase deficiency	GPathogenic
Select item 1076367	NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)	LIAS (K34*)	Single nucleotide variant (nonsense)	Lipoic acid synthetase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1007275	NM_006859.4(LIAS):c.101A>G (p.Lys34Arg)	LIAS (K34R)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1099139	NM_006859.4(LIAS):c.105A>G (p.Lys35=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 664973	NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)	LIAS (K36N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 540085	NM_006859.4(LIAS):c.110A>T (p.Glu37Val)	LIAS (E37V)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1013491	NM_006859.4(LIAS):c.114C>G (p.Leu38=)	LIAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 472876	NM_006859.4(LIAS):c.114C>A (p.Leu38=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2014770	NM_006859.4(LIAS):c.120G>A (p.Gln40=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 472877	NM_006859.4(LIAS):c.120G>T (p.Gln40His)	LIAS (Q40H)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 206044	NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)	LIAS (N41S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 540092	NM_006859.4(LIAS):c.129A>G (p.Pro43=)	LIAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2005335	NM_006859.4(LIAS):c.130del (p.Asp44fs)	LIAS (D44fs)	Deletion (frameshift variant)	Lipoic acid synthetase deficiency	GPathogenic
Select item 1625938	NM_006859.4(LIAS):c.138A>G (p.Gln46=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 577562	NM_006859.4(LIAS):c.140A>G (p.Asp47Gly)	LIAS (D47G)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1566573	NM_006859.4(LIAS):c.144T>C (p.Phe48=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1030163	NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)	LIAS (G51D)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1478813	NM_006859.4(LIAS):c.158T>A (p.Leu53His)	LIAS (L53H)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1010805	NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)	LIAS (D55N)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2089916	NM_006859.4(LIAS):c.166A>C (p.Arg56=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 764512	NM_006859.4(LIAS):c.168G>A (p.Arg56=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2142276	NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)	LIAS (S57T)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance

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