"Eurofins Ntd Llc (ga)"[submitter] AND "LIAS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 597822	NM_006859.4(LIAS):c.45+15G>A	LIAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 287006	NM_006859.4(LIAS):c.301A>G (p.Asn101Asp)	LIAS (N101D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 540083	NM_006859.4(LIAS):c.331T>A (p.Cys111Ser)	LIAS (C111S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594895	NM_006859.4(LIAS):c.877A>G (p.Met293Val)	LIAS (M293V +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 595213	NM_006859.4(LIAS):c.905A>G (p.Asp302Gly)	LIAS (D302G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 418284	NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr)	LIAS (F328Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity

ClinVar