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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138118	NM_006859.4(LIAS):c.306C>A (p.Leu102=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	not specified +1 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)	not specified +1 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

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