ClinVar for MedGen (Select 867188) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523307	NC_012920.1:m.9355A>T	MT-CO3	Single nucleotide variant	Difficulty walking +12 more	GUncertain significance
Select item 426106	NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)	TWNK (R374Q)	Single nucleotide variant (missense variant +2 more)	EMG: myopathic abnormalities +8 more	GPathogenic/Likely pathogenic