"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LIAS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030164	NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)	LIAS (R26G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 138118	NM_006859.4(LIAS):c.306C>A (p.Leu102=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency +2 more	GBenign
Select item 957251	NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)	LIAS (A149G)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 138122	NM_006859.4(LIAS):c.507A>G (p.Glu169=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency +2 more	GBenign
Select item 577916	NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)	LIAS (R217Q +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 30629	NM_006859.4(LIAS):c.746G>A (p.Arg249His)	LIAS (R249H +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GConflicting classifications of pathogenicity

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