ClinVar for MedGen (Select 1773965) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813296	NM_004549.6(NDUFC2):c.346_*7del (p.His116fs)	NDUFC2, NDUFC2-KCTD14 (H93fs +1 more)	Deletion (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 813295	NM_004549.6(NDUFC2):c.173A>T (p.His58Leu)	NDUFC2, NDUFC2-KCTD14 (H58L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial disease	GPathogenic