ClinVar for MedGen (Select 9618) - 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	MERRF syndrome +6 more	Gnot provided
Select item 690070	NC_012920.1(MT-TK):m.8319A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GConflicting classifications of pathogenicity
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9599	NC_012920.1(MT-TL1):m.3249G>A	MT-TL1	Single nucleotide variant	Kearns-Sayre syndrome	GUncertain significance
Select item 9552	NC_012920.1(MT-TY):m.5877C>T	MT-TY	Single nucleotide variant	Kearns-Sayre syndrome	GPathogenic
Select item 9551	NC_012920.1(MT-TY):m.5888del	MT-TY	Deletion	Kearns-Sayre syndrome	GPathogenic

ClinVar