ClinVar for MedGen (Select 374333) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976691	NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	DNAJC30, LOC129998603 (Y51C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 9708	NC_012920.1(MT-ND4):m.11778G>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database