ClinVar for MedGen (Select 231285) - ClinVar

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Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501808	NC_012920.1(MT-CYB):m.15485C>T	MT-CYB	Single nucleotide variant	MERRF syndrome +6 more	Gnot provided
Select item 693061	NC_012920.1(MT-ATP6):m.9032T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693047	NC_012920.1(MT-ATP6):m.8993_8994inv	MT-ATP6	Inversion	NARP syndrome	GPathogenic
Select item 690280	NC_012920.1(MT-ATP6):m.9035T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 585120	NC_012920.1(MT-ATP6):m.8686T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9648	m.8618dupT	MT-ATP6	Duplication	NARP syndrome	GPathogenic
Select item 9647	NC_012920.1(MT-ATP6):m.9185T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9645	NC_012920.1(MT-ATP6):m.8851T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9644	NC_012920.1(MT-ATP6):m.9176T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9642	NC_012920.1(MT-ATP6):m.8993T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
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