"Revvity Omics, Revvity"[submitter] AND "LARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690635	NM_015340.4(LARS2):c.196C>T (p.Arg66Ter)	LARS2 (R66*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 667120	NM_015340.4(LARS2):c.763G>A (p.Ala255Thr)	LARS2 (A255T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433411	NM_015340.4(LARS2):c.1318A>G (p.Thr440Ala)	LARS2, LARS2-AS1 (T440A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 55871	NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	LARS2, LARS2-AS1 (T522N)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 504797	NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)	LARS2 (D649E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2433412	NM_015340.4(LARS2):c.1982C>T (p.Thr661Met)	LARS2 (T661M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505168	NM_015340.4(LARS2):c.2572C>A (p.Gln858Lys)	LARS2 (Q858K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

ClinVar