C1853139[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446169	NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala)	DNM1L (E2A)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 5	GPathogenic
Select item 446170	NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu)	DNM1L (A192E +1 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 5	GPathogenic
Select item 214313	NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	DNM1L (R403C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic

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