"GeneReviews"[submitter] AND "HARS2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39620	NM_012208.4(HARS2):c.598C>G (p.Leu200Val)	HARS2 (L200V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2203771	NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)	HARS2 (Y343C +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome	Gnot provided
Select item 208286	NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)	HARS2 (V368L +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GPathogenic/Likely pathogenic

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