ClinVar for MedGen (Select 333220) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9721	NC_012920.1(MT-ND2):m.4681T>C	MT-ND2	Single nucleotide variant	Leigh syndrome due to mitochondrial complex I deficiency	GPathogenic
Select item 9703	NC_012920.1(MT-ND5):m.13042G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9702	NC_012920.1(MT-ND5):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	NC_012920.1(MT-ND5):m.12706T>C	MT-ND5 (F124L)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9694	NC_012920.1(MT-ND6):m.14487T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9689	NC_012920.1(MT-ND6):m.14459G>A	MT-ND5, MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

ClinVar