ClinVar for MedGen (Select 102439) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501808	NC_012920.1(MT-CYB):m.15485C>T	MT-CYB	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +6 more	Gnot provided
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
Select item 374215	NC_012920.1:m.7486G>A	MT-TS1	Single nucleotide variant	Progressive external ophthalmoplegia	GUncertain significance
Select item 30436	NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser)	RRM2B (P105S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 30435	NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser)	RRM2B (G345S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30434	NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu)	RRM2B (F274L +1 more)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia	GUncertain significance

ClinVar