"GeneDx"[submitter] AND "LOC112939935"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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