ClinVar for MedGen (Select 333220) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9721	m.4681T>C	MT-ND2	Single nucleotide variant	Leigh syndrome due to mitochondrial complex I deficiency	GPathogenic
Select item 9703	m.13042G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9702	m.13513G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9701	m.13084A>T	MT-ND5	Single nucleotide variant	Leigh syndrome due to mitochondrial complex I deficiency +1 more	GPathogenic
Select item 9700	m.13045A>C	MT-ND5	Single nucleotide variant	Leigh syndrome due to mitochondrial complex I deficiency +2 more	GPathogenic
Select item 9698	m.12706T>C	MT-ND5 (F124L)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9694	m.14487T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9689	m.14459G>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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