ClinVar for MedGen (Select 1851745) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2626806	NM_019008.6(MIEF1):c.436C>T (p.Arg146Trp)	MIEF1	Single nucleotide variant (missense variant +1 more)	Optic atrophy 14	GPathogenic
Select item 2626805	NM_019008.6(MIEF1):c.718T>A (p.Tyr240Asn)	MIEF1	Single nucleotide variant (missense variant +1 more)	Optic atrophy 14	GPathogenic