"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LARS2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226695	NM_015340.4(LARS2):c.157T>C (p.Leu53=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1505205	NM_015340.4(LARS2):c.670G>A (p.Gly224Ser)	LARS2 (G224S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227493	NM_015340.4(LARS2):c.945G>A (p.Ser315=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 226707	NM_015340.4(LARS2):c.945G>C (p.Ser315=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 226708	NM_015340.4(LARS2):c.972C>A (p.His324Gln)	LARS2 (H324Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 226691	NM_015340.4(LARS2):c.1053T>C (p.Leu351=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226692	NM_015340.4(LARS2):c.1131C>T (p.Pro377=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 385666	NM_015340.4(LARS2):c.1383T>C (p.Ile461=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226693	NM_015340.4(LARS2):c.1455G>A (p.Ala485=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 55871	NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	LARS2, LARS2-AS1 (T522N)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 1254055	NM_015340.4(LARS2):c.1813C>T (p.Arg605Cys)	LARS2 (R605C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226698	NM_015340.4(LARS2):c.1983G>A (p.Thr661=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226699	NM_015340.4(LARS2):c.2124T>C (p.Ser708=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 226700	NM_015340.4(LARS2):c.2169T>C (p.Ala723=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226704	NM_015340.4(LARS2):c.2358A>G (p.Val786=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 218718	NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp)	LARS2 (E831D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign