"Mendelics"[submitter] AND "MT-TS2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9561	m.12207G>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 1684925	NC_012920.1(MT-TS2):m.12246C>A	MT-TS2	Single nucleotide variant	not specified	GUncertain significance
Select item 690177	NC_012920.1(MT-CYB):m.12258C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 690178	NC_012920.1(MT-CYB):m.12264C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic

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