ClinVar for MedGen (Select 1709379) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432060	NM_176818.3(GATC):c.128T>C (p.Leu43Pro)	GATC, LOC112163529 (L43P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 42	GUncertain significance
Select item 559417	NM_176818.3(GATC):c.233T>G (p.Met78Arg)	GATC, LOC112163529 (M78R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, mitochondrial	GPathogenic