"GenomeConnect, ClinGen"[submitter] AND "MT-ATP6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918019	NC_012920.1:m.8568C>T	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	Gnot provided
Select item 1326905	NC_012920.1(MT-ATP6):m.8636T>C	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 441129	NC_012920.1:m.8651T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 585120	NC_012920.1:m.8686T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 972939	NC_012920.1(MT-ATP6):m.8806C>T	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 1326901	NC_012920.1(MT-ATP6):m.8821T>A	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 918021	NC_012920.1(MT-ATP6):m.8878C>T	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 918025	NC_012920.1(MT-ATP6):m.8946A>T	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 693041	NC_012920.1(MT-ATP6):m.8975T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 440988	NC_012920.1:m.9041A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235698	NC_012920.1:m.9152T>C	MT-ATP6	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 986472	NC_012920.1(MT-ATP6):m.9155A>G	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 441146	NC_012920.1:m.9157G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign