ClinVar for MedGen (Select 481338) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065807	NM_006886.4(ATP5F1E):c.151G>T (p.Glu51Ter)	ATP5F1E, SLMO2-ATP5E (E51*)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 3	GUncertain significance
Select item 30551	NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)	ATP5F1E, SLMO2-ATP5E (Y12C)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 3	GPathogenic