4512[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1:m.5782_13922del8141	MT-TS2, MT-TY +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1:m.5794_14876del9083	MT-ATP6, MT-TL2 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 692598	NC_012920.1(MT-CO1):m.5907T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692599	NC_012920.1(MT-CO1):m.5910G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692600	NC_012920.1(MT-CO1):m.5911C>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692601	NC_012920.1(MT-CO1):m.5913G>A	MT-CO1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 805023	NC_012920.1(MT-CO1):m.5918T>C	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 9669	m.5920G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 235783	NC_012920.1:m.5951A>G	MT-CO1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 590893	NC_012920.1(MT-CO1):m.5954del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic
Select item 692602	NC_012920.1(MT-CO1):m.5961C>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692603	NC_012920.1(MT-CO1):m.5973G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692604	NC_012920.1(MT-CO1):m.5979G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692605	NC_012920.1(MT-CO1):m.5985G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 994642	NC_012920.1(MT-CO1):m.5999T>C	MT-CO1	Single nucleotide variant	not specified	GBenign
Select item 430674	NC_012920.1:m.6003_11220del5218	MT-TD, MT-TG +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 692606	NC_012920.1(MT-CO1):m.6012A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692607	NC_012920.1(MT-CO1):m.6018G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 805024	NC_012920.1(MT-CO1):m.6026G>A	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 692608	NC_012920.1(MT-CO1):m.6037G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692609	NC_012920.1(MT-CO1):m.6040A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 994643	NC_012920.1(MT-CO1):m.6047A>G	MT-CO1	Single nucleotide variant	not specified	GBenign
Select item 692610	NC_012920.1(MT-CO1):m.6048G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692611	NC_012920.1(MT-CO1):m.6052A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 618721	NC_012920.1:m.6054G>A	MT-CO1	Single nucleotide variant	not provided	GUncertain significance
Select item 692613	NC_012920.1(MT-CO1):m.6060A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692612	NC_012920.1(MT-CO1):m.6060A>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692614	NC_012920.1(MT-CO1):m.6061T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235696	NC_012920.1:m.6071T>C	MT-CO1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 692615	NC_012920.1(MT-CO1):m.6072A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692616	NC_012920.1(MT-CO1):m.6075G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692618	NC_012920.1(MT-CO1):m.6081G>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692617	NC_012920.1(MT-CO1):m.6081G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692619	NC_012920.1(MT-CO1):m.6093G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692620	NC_012920.1(MT-CO1):m.6109T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235378	NC_012920.1(MT-CO1):m.6120A>G	MT-CO1	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 692621	NC_012920.1(MT-CO1):m.6121T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692622	NC_012920.1(MT-CO1):m.6126A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692623	NC_012920.1(MT-CO1):m.6132G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692624	NC_012920.1(MT-CO1):m.6145G>A	MT-CO1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692625	NC_012920.1(MT-CO1):m.6150G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692626	NC_012920.1(MT-CO1):m.6174G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692627	NC_012920.1(MT-CO1):m.6228C>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692628	NC_012920.1(MT-CO1):m.6237C>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 2412795	NC_012920.1(MT-CO1):m.6243G>A	MT-CO1	Single nucleotide variant	not provided	Gnot provided
Select item 692629	NC_012920.1(MT-CO1):m.6249G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692630	NC_012920.1(MT-CO1):m.6252A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692631	NC_012920.1(MT-CO1):m.6253T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 994644	NC_012920.1(MT-CO1):m.6254A>G	MT-CO1	Single nucleotide variant	not provided	GLikely benign
Select item 692632	NC_012920.1(MT-CO1):m.6258G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235511	NC_012920.1(MT-CO1):m.6260G>A	MT-CO1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 235718	NC_012920.1(MT-CO1):m.6261G>A	MT-CO1	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 9667	m.6264G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692633	NC_012920.1(MT-CO1):m.6267G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692634	NC_012920.1(MT-CO1):m.6273A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9672	m.6277G>A	MT-CO1	Single nucleotide variant	Familial colorectal cancer	GPathogenic
Select item 446007	NC_012920.1:m.6278T>C	MT-CO1	Single nucleotide variant	not provided	GLikely benign
Select item 692635	NC_012920.1(MT-CO1):m.6285G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692636	NC_012920.1(MT-CO1):m.6286T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692637	NC_012920.1(MT-CO1):m.6289A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 377327	NC_012920.1:m.6299A>G	MT-CO1	Single nucleotide variant	not provided	GUncertain significance
Select item 692638	NC_012920.1(MT-CO1):m.6307A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692639	NC_012920.1(MT-CO1):m.6324G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9671	m.6328C>T	MT-CO1	Single nucleotide variant	Cytochrome c oxidase I deficiency	GPathogenic
Select item 692640	NC_012920.1(MT-CO1):m.6339A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692641	NC_012920.1(MT-CO1):m.6340C>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692642	NC_012920.1(MT-CO1):m.6345T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 805025	NC_012920.1(MT-CO1):m.6353A>G	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 692643	NC_012920.1(MT-CO1):m.6358T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692645	NC_012920.1(MT-CO1):m.6366G>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692644	NC_012920.1(MT-CO1):m.6366G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692646	NC_012920.1(MT-CO1):m.6367T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692647	NC_012920.1(MT-CO1):m.6393T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692648	NC_012920.1(MT-CO1):m.6420C>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692649	NC_012920.1(MT-CO1):m.6445C>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 805026	NC_012920.1(MT-CO1):m.6446G>A	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 692650	NC_012920.1(MT-CO1):m.6456G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692651	NC_012920.1(MT-CO1):m.6465G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 430675	NC_012920.1:m.6469_15587del9119	MT-ATP8, MT-CO1 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9666	m.6480G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease +1 more	GConflicting classifications of pathogenicity
Select item 692652	NC_012920.1(MT-CO1):m.6481T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9670	m.6489C>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 994645	NC_012920.1(MT-CO1):m.6497T>C	MT-CO1	Single nucleotide variant	not specified	GBenign
Select item 692653	NC_012920.1(MT-CO1):m.6504G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692654	NC_012920.1(MT-CO1):m.6505T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692655	NC_012920.1(MT-CO1):m.6510G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692656	NC_012920.1(MT-CO1):m.6520T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692657	NC_012920.1(MT-CO1):m.6526T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GLikely pathogenic
Select item 692658	NC_012920.1(MT-CO1):m.6546C>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692659	NC_012920.1(MT-CO1):m.6550A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235548	NC_012920.1:m.6554C>T	MT-CO1	Single nucleotide variant	not provided	GUncertain significance
Select item 692660	NC_012920.1(MT-CO1):m.6564G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692661	NC_012920.1(MT-CO1):m.6570G>T	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 590946	NC_012920.1(MT-CO1):m.6608del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 805027	NC_012920.1(MT-CO1):m.6626T>C	MT-CO1	Single nucleotide variant	not provided	GLikely benign
Select item 692662	NC_012920.1(MT-CO1):m.6642A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692663	NC_012920.1(MT-CO1):m.6663A>G	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692664	NC_012920.1(MT-CO1):m.6664T>C	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 805028	NC_012920.1(MT-CO1):m.6671T>C	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 590947	NC_012920.1(MT-CO1):m.6674del	MT-CO1	Deletion	Abnormal mitral valve physiology	GLikely pathogenic

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