"Baylor Genetics"[submitter] AND "LARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031905	NM_015340.4(LARS2):c.317C>T (p.Thr106Ile)	LARS2 (T106I)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GUncertain significance
Select item 1031906	NM_015340.4(LARS2):c.944C>T (p.Ser315Leu)	LARS2 (S315L)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more	GConflicting classifications of pathogenicity
Select item 667121	NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)	LARS2, LARS2-AS1 (A393D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 689771	NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp)	LARS2 (A595D)	Single nucleotide variant (missense variant)	Perrault syndrome 4	GUncertain significance
Select item 2054175	NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn)	LARS2 (S641N)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +3 more	GUncertain significance
Select item 689772	NM_015340.4(LARS2):c.2269A>T (p.Met757Leu)	LARS2 (M757L)	Single nucleotide variant (missense variant)	Perrault syndrome 4	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic

ClinVar