C5543589[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299584	NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser)	DNAJC30 (Y98S)	Single nucleotide variant (missense variant)	Leber hereditary optic neuropathy, autosomal recessive	GLikely pathogenic
Select item 976691	NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	DNAJC30, LOC129998603 (Y51C)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic