ClinVar for Gene (Select 4508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337306	NC_012920.1(MT-ATP6):m.9205dup	MT-ATP6	Duplication	not provided	GUncertain significance
Select item 3337305	NC_012920.1(MT-ATP6):m.9136A>G	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 3337304	NC_012920.1(MT-ATP6):m.8967C>A	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 3337303	NC_012920.1(MT-ATP6):m.8884A>G	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 3337302	NC_012920.1(MT-ATP6):m.8833G>A	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 3251971	NC_012920.1(MT-ATP6):m.8603T>G	MT-ATP6	Single nucleotide variant	Leber optic atrophy	GUncertain significance
Select item 2505068	NC_012920.1(MT-ATP6):m.8723G>T	MT-ATP6	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 1326901	NC_012920.1(MT-ATP6):m.8821T>A	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 1172526	NC_012920.1(MT-ATP6):m.8936T>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
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 972939	NC_012920.1(MT-ATP6):m.8806C>T	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 931216	NC_012920.1(MT-ATP6):m.8980C>A	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 918025	NC_012920.1(MT-ATP6):m.8946A>T	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 918019	NC_012920.1:m.8568C>T	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	Gnot provided
Select item 693124	NC_012920.1(MT-ATP6):m.9205T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693123	NC_012920.1(MT-ATP6):m.9202A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693122	NC_012920.1(MT-ATP6):m.9196G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693121	NC_012920.1(MT-ATP6):m.9194A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693120	NC_012920.1(MT-ATP6):m.9188A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693119	NC_012920.1(MT-ATP6):m.9182G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693118	NC_012920.1(MT-ATP6):m.9181A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693117	NC_012920.1(MT-ATP6):m.9179T>C	MT-ATP6	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 693116	NC_012920.1(MT-ATP6):m.9170C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693115	NC_012920.1(MT-ATP6):m.9169A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693114	NC_012920.1(MT-ATP6):m.9167T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693113	NC_012920.1(MT-ATP6):m.9163G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693112	NC_012920.1(MT-ATP6):m.9160T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693111	NC_012920.1(MT-ATP6):m.9151A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693110	NC_012920.1(MT-ATP6):m.9145G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693109	NC_012920.1(MT-ATP6):m.9142G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693108	NC_012920.1(MT-ATP6):m.9140C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693107	NC_012920.1(MT-ATP6):m.9139G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693106	NC_012920.1(MT-ATP6):m.9137T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693105	NC_012920.1(MT-ATP6):m.9134A>G	MT-ATP6	Single nucleotide variant	not provided +1 more	GLikely pathogenic
Select item 693104	NC_012920.1(MT-ATP6):m.9133G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693103	NC_012920.1(MT-ATP6):m.9130C>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693102	NC_012920.1(MT-ATP6):m.9128T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693101	NC_012920.1(MT-ATP6):m.9127A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693100	NC_012920.1(MT-ATP6):m.9125C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693099	NC_012920.1(MT-ATP6):m.9122T>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693098	NC_012920.1(MT-ATP6):m.9116T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693097	NC_012920.1(MT-ATP6):m.9115A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693096	NC_012920.1(MT-ATP6):m.9110T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693095	NC_012920.1(MT-ATP6):m.9106A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693094	NC_012920.1(MT-ATP6):m.9104T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693093	NC_012920.1(MT-ATP6):m.9103T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693092	NC_012920.1(MT-ATP6):m.9101T>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693091	NC_012920.1(MT-ATP6):m.9100A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693090	NC_012920.1(MT-ATP6):m.9099C>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693089	NC_012920.1(MT-ATP6):m.9098T>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693088	NC_012920.1(MT-ATP6):m.9098T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693087	NC_012920.1(MT-ATP6):m.9097A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693086	NC_012920.1(MT-ATP6):m.9095T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693085	NC_012920.1(MT-ATP6):m.9094C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693084	NC_012920.1(MT-ATP6):m.9088T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693083	NC_012920.1(MT-ATP6):m.9086C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693082	NC_012920.1(MT-ATP6):m.9085C>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693081	NC_012920.1(MT-ATP6):m.9083T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693080	NC_012920.1(MT-ATP6):m.9082C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693079	NC_012920.1(MT-ATP6):m.9080A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693078	NC_012920.1(MT-ATP6):m.9079A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693077	NC_012920.1(MT-ATP6):m.9077T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693076	NC_012920.1(MT-ATP6):m.9073A>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693075	NC_012920.1(MT-ATP6):m.9071C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693074	NC_012920.1(MT-ATP6):m.9070T>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693073	NC_012920.1(MT-ATP6):m.9070T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693072	NC_012920.1(MT-ATP6):m.9067A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693071	NC_012920.1(MT-ATP6):m.9064G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693070	NC_012920.1(MT-ATP6):m.9058A>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693069	NC_012920.1(MT-ATP6):m.9058A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693068	NC_012920.1(MT-ATP6):m.9056C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693067	NC_012920.1(MT-ATP6):m.9055G>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 693066	NC_012920.1(MT-ATP6):m.9053G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693065	NC_012920.1(MT-ATP6):m.9052A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693064	NC_012920.1(MT-ATP6):m.9049G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome +4 more	GLikely pathogenic
Select item 693063	NC_012920.1(MT-ATP6):m.9047T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693062	NC_012920.1(MT-ATP6):m.9038T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
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 693060	NC_012920.1(MT-ATP6):m.9029A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693059	NC_012920.1(MT-ATP6):m.9028C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693058	NC_012920.1(MT-ATP6):m.9026G>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693057	NC_012920.1(MT-ATP6):m.9025G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693056	NC_012920.1(MT-ATP6):m.9019A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693055	NC_012920.1(MT-ATP6):m.9016A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693054	NC_012920.1(MT-ATP6):m.9014A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693053	NC_012920.1(MT-ATP6):m.9010G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693052	NC_012920.1(MT-ATP6):m.9007A>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693051	NC_012920.1(MT-ATP6):m.9007A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693050	NC_012920.1(MT-ATP6):m.9005T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693049	NC_012920.1(MT-ATP6):m.8999T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693048	NC_012920.1(MT-ATP6):m.8998G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693047	NC_012920.1(MT-ATP6):m.8993_8994inv	MT-ATP6	Inversion	NARP syndrome	GPathogenic
Select item 693046	NC_012920.1(MT-ATP6):m.8989G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693045	NC_012920.1(MT-ATP6):m.8987T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693044	NC_012920.1(MT-ATP6):m.8986A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693043	NC_012920.1(MT-ATP6):m.8981A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693042	NC_012920.1(MT-ATP6):m.8978T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693041	NC_012920.1(MT-ATP6):m.8975T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign

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