ClinVar for MedGen (Select 333220) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 97211.	m.4681T>C GRCh37: ChrMT:4681 GRCh38: ChrMT:4681	MT-ND2		Leigh syndrome due to mitochondrial complex I deficiency	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 97032.	m.13042G>A GRCh37: ChrMT:13042 GRCh38: ChrMT:13042	MT-ND5		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 97023.	m.13513G>A GRCh37: ChrMT:13513 GRCh38: ChrMT:13513	MT-ND5		Mitochondrial disease	Pathogenic (Oct 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 97014.	m.13084A>T GRCh37: ChrMT:13084 GRCh38: ChrMT:13084	MT-ND5		Leigh syndrome due to mitochondrial complex I deficiency, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jun 10, 2003)	no assertion criteria provided
Select item 97005.	m.13045A>C GRCh37: ChrMT:13045 GRCh38: ChrMT:13045	MT-ND5		Leigh syndrome due to mitochondrial complex I deficiency, Leber optic atrophy, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jan 1, 2003)	no assertion criteria provided
Select item 96986.	m.12706T>C GRCh37: ChrMT:12706 GRCh38: ChrMT:12706	MT-ND5	F124L	Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 96947.	m.14487T>C GRCh37: ChrMT:14487 GRCh38: ChrMT:14487	MT-ND6		Mitochondrial disease	Pathogenic (Aug 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 96898.	m.14459G>A GRCh37: ChrMT:14459 GRCh38: ChrMT:14459	MT-ND6		Mitochondrial disease	Pathogenic (Nov 1, 2021)	reviewed by expert panel FDA Recognized Database