Related gene-specific medical variations for Gene (Select 11019) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2242435	NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)	LOC112939935, LIAS (T11S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 2163648	NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)	LOC112939935, LIAS (S2F)	Single nucleotide variant (missense variant)	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 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 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 1806916	NM_006859.4(LIAS):c.394-5T>C	LIAS	Single nucleotide variant (intron variant)	not provided	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 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 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 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 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 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 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 1362885	NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)	LIAS, LOC112939935 (A9S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
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 1096249	NM_006859.4(LIAS):c.18G>A (p.Gly6=)	LIAS, LOC112939935	Single nucleotide variant (synonymous variant)	LIAS-related disorder +1 more	GLikely benign
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 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 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 930465	NM_006859.4(LIAS):c.393+7C>G	LIAS (P134A)	Single nucleotide variant (missense variant +2 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 930324	NM_006859.4(LIAS):c.643del (p.Asp215fs)	LIAS (D112fs +1 more)	Deletion (frameshift variant +1 more)	Lipoic acid synthetase deficiency	GLikely pathogenic
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 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 790418	NM_006859.4(LIAS):c.27C>A (p.Ala9=)	LOC112939935, LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 656689	NM_006859.4(LIAS):c.23C>T (p.Ala8Val)	LIAS, LOC112939935 (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 597605	NM_006859.4(LIAS):c.-1A>G	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	LIAS-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 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 518144	NM_006859.4(LIAS):c.-12C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 379118	NM_006859.4(LIAS):c.-45T>C	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 253562	GRCh37/hg19 4p14(chr4:39478387-39478807)x1	LIAS	Copy number loss	See cases	GPathogenic
Select item 206037	NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)	LIAS, LOC112939935 (T11S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 138121	NM_006859.4(LIAS):c.-32A>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 138120	NM_006859.4(LIAS):c.-35C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign

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Links from Gene

Items: 37