ClinVar for MedGen (Select 463248) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710006	NC_012920.1(MT-CO2):m.8156del	MT-CO2	Deletion	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 693492	NC_012920.1(MT-ND5):m.12858C>A	MT-ND5	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GUncertain significance
Select item 693440	NC_012920.1(MT-ND5):m.12425del	MT-ND5	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 692961	NC_012920.1(MT-ATP6):m.8719G>A	MT-ATP6	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692717	NC_012920.1(MT-CO1):m.7222A>G	MT-CO1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692624	NC_012920.1(MT-CO1):m.6145G>A	MT-CO1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692585	NC_012920.1(MT-ND2):m.5367_5385del	MT-ND2	Deletion	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692374	NC_012920.1(MT-ND1):m.3571del	MT-ND1	Deletion	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692361	NC_012920.1(MT-ND1):m.3502T>C	MT-ND1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +1 more	GLikely pathogenic
Select item 618220	NC_012920.1(MT-CYB):m.14701C>T	MT-TE	Single nucleotide variant	See cases +1 more	GUncertain significance
Select item 30003	m.14674T>G	MT-TE	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GPathogenic
Select item 9683	m.15579A>G	MT-CYB	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9681	m.15150G>A	MT-CYB	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +1 more	GPathogenic
Select item 9679	m.14846G>A	MT-CYB	Single nucleotide variant	MT-CYB associated Exercise intolerance +2 more	GPathogenic/Likely pathogenic
Select item 9678	m.15615G>A	MT-CYB	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 9657	m.9379G>A	MT-CO3	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GPathogenic
Select item 9618	m.14674T>C	MT-TE	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database