7415[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430674	NC_012920.1(MT-TS1):m.6005_11222del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430677	NC_012920.1(MT-TR):m.7731_11256del	MT-ATP6, MT-ATP8 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 692833	NC_012920.1(MT-ATP8):m.8369C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692835	NC_012920.1(MT-ATP8):m.8373A>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692834	NC_012920.1(MT-ATP8):m.8373A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692836	NC_012920.1(MT-ATP8):m.8379A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692838	NC_012920.1(MT-ATP8):m.8381A>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692837	NC_012920.1(MT-ATP8):m.8381A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 445618	NC_012920.1(MT-ATP8):m.8382C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 3337307	NC_012920.1(MT-ATP8):m.8387G>T	MT-ATP8	Single nucleotide variant	not provided	GUncertain significance
Select item 692839	NC_012920.1(MT-ATP8):m.8387G>A	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692840	NC_012920.1(MT-ATP8):m.8388T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9638	NC_012920.1(MT-ATP8):m.8393C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692841	NC_012920.1(MT-ATP8):m.8394C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692842	NC_012920.1(MT-ATP8):m.8396A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692843	NC_012920.1(MT-ATP8):m.8397C>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692844	NC_012920.1(MT-ATP8):m.8400T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692845	NC_012920.1(MT-ATP8):m.8403T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692846	NC_012920.1(MT-ATP8):m.8406C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 930945	NC_012920.1(MT-ATP8):m.8408C>T	MT-ATP8	Single nucleotide variant	See cases	GUncertain significance
Select item 235707	NC_012920.1:m.8410C>T	MT-ATP8	Single nucleotide variant	not provided	GLikely benign
Select item 692848	NC_012920.1(MT-ATP8):m.8411A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692847	NC_012920.1(MT-ATP8):m.8411A>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692849	NC_012920.1(MT-ATP8):m.8412T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692850	NC_012920.1(MT-ATP8):m.8414C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692851	NC_012920.1(MT-ATP8):m.8415T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692852	NC_012920.1(MT-ATP8):m.8417C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 626321	NC_012920.1:m.8420_8421insATA	MT-ATP8	Insertion	Bicuspid aortic valve	GPathogenic
Select item 370050	NC_012920.1:m.8418T>C	MT-ATP8	Single nucleotide variant	not specified	GUncertain significance
Select item 692853	NC_012920.1(MT-ATP8):m.8426T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692854	NC_012920.1(MT-ATP8):m.8429C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692855	NC_012920.1(MT-ATP8):m.8430T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 590888	NC_012920.1:m.8431_8432insCCA	MT-ATP8	Insertion	Abnormal aortic valve physiology	GPathogenic
Select item 692856	NC_012920.1(MT-ATP8):m.8433T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692858	NC_012920.1(MT-ATP8):m.8435A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692857	NC_012920.1(MT-ATP8):m.8435A>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692859	NC_012920.1(MT-ATP8):m.8448T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692860	NC_012920.1(MT-ATP8):m.8453A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692861	NC_012920.1(MT-ATP8):m.8454A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692862	NC_012920.1(MT-ATP8):m.8460A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692863	NC_012920.1(MT-ATP8):m.8461C>A	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692864	NC_012920.1(MT-ATP8):m.8462T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692865	NC_012920.1(MT-ATP8):m.8463A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692866	NC_012920.1(MT-ATP8):m.8466A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692867	NC_012920.1(MT-ATP8):m.8469T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 692868	NC_012920.1(MT-ATP8):m.8471C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692869	NC_012920.1(MT-ATP8):m.8472C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692870	NC_012920.1(MT-ATP8):m.8474C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 3337309	NC_012920.1(MT-ATP8):m.8475C>T	MT-ATP8	Single nucleotide variant	not provided	GUncertain significance
Select item 692871	NC_012920.1(MT-ATP8):m.8477T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692872	NC_012920.1(MT-ATP8):m.8478C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692873	NC_012920.1(MT-ATP8):m.8480C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 692874	NC_012920.1(MT-ATP8):m.8481C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692875	NC_012920.1(MT-ATP8):m.8489A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692876	NC_012920.1(MT-ATP8):m.8490T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692877	NC_012920.1(MT-ATP8):m.8496T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692879	NC_012920.1(MT-ATP8):m.8502A>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692878	NC_012920.1(MT-ATP8):m.8502A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692880	NC_012920.1(MT-ATP8):m.8504T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692881	NC_012920.1(MT-ATP8):m.8507A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692882	NC_012920.1(MT-ATP8):m.8508A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692883	NC_012920.1(MT-ATP8):m.8514C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692884	NC_012920.1(MT-ATP8):m.8516T>C	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 235671	NC_012920.1(MT-ATP8):m.8519G>A	MT-ATP8	Single nucleotide variant	Leigh syndrome +1 more	GBenign/Likely benign
Select item 692885	NC_012920.1(MT-ATP8):m.8520A>G	MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692886	NC_012920.1(MT-ATP8):m.8522C>T	MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235294	NC_012920.1(MT-ATP6):m.8527A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 9640	NC_012920.1(MT-ATP8):m.8528T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9639	NC_012920.1(MT-ATP8):m.8529G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Cardiomyopathy, apical hypertrophic, and neuropathy	GPathogenic
Select item 692887	NC_012920.1(MT-ATP6):m.8530A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692888	NC_012920.1(MT-ATP6):m.8531A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692889	NC_012920.1(MT-ATP6):m.8533G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692890	NC_012920.1(MT-ATP6):m.8537A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235326	NC_012920.1(MT-ATP8):m.8538T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	GUncertain significance
Select item 235227	NC_012920.1(MT-ATP6):m.8540T>C	MT-ATP8, MT-ATP6	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 692891	NC_012920.1(MT-ATP6):m.8541G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692892	NC_012920.1(MT-ATP6):m.8542T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692893	NC_012920.1(MT-ATP6):m.8545G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692894	NC_012920.1(MT-ATP6):m.8547T>C	MT-ATP8, MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692895	NC_012920.1(MT-ATP6):m.8548T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692896	NC_012920.1(MT-ATP6):m.8550A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692897	NC_012920.1(MT-ATP6):m.8551T>C	MT-ATP8, MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692898	NC_012920.1(MT-ATP6):m.8552T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618720	NC_012920.1(MT-ATP6):m.8553C>T	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 692899	NC_012920.1(MT-ATP6):m.8554A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692901	NC_012920.1(MT-ATP6):m.8557G>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692900	NC_012920.1(MT-ATP6):m.8557G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 590998	NC_012920.1(MT-ATP8):m.8562_8564dup	MT-ATP6, MT-ATP8	Duplication	Abnormal mitral valve physiology	GPathogenic
Select item 692902	NC_012920.1(MT-ATP6):m.8562C>T	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692903	NC_012920.1(MT-ATP6):m.8563A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235492	NC_012920.1(MT-ATP8):m.8565A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	GUncertain significance

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