4576[geneid] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 690212	NC_012920.1(MT-CYB):m.15888G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690213	NC_012920.1(MT-CYB):m.15889T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690214	NC_012920.1(MT-CYB):m.15890C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 143901	NC_012920.1:m.15890C>A	MT-TT	Single nucleotide variant	Neoplasm of ovary	GUncertain significance
Select item 690215	NC_012920.1(MT-CYB):m.15891C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690216	NC_012920.1(MT-CYB):m.15892T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690217	NC_012920.1(MT-CYB):m.15893T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690218	NC_012920.1(MT-CYB):m.15894G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690219	NC_012920.1(MT-CYB):m.15895T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690220	NC_012920.1(MT-CYB):m.15897G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690221	NC_012920.1(MT-CYB):m.15900T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690222	NC_012920.1(MT-CYB):m.15902A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690223	NC_012920.1(MT-CYB):m.15903A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690224	NC_012920.1(MT-CYB):m.15904C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690225	NC_012920.1(MT-CYB):m.15905T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690226	NC_012920.1(MT-CYB):m.15907A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690227	NC_012920.1(MT-CYB):m.15908T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690229	NC_012920.1(MT-CYB):m.15909A>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690228	NC_012920.1(MT-CYB):m.15909A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690230	NC_012920.1(MT-CYB):m.15911A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690231	NC_012920.1(MT-CYB):m.15913C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690232	NC_012920.1(MT-CYB):m.15914A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690233	NC_012920.1(MT-CYB):m.15915G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 690234	NC_012920.1(MT-CYB):m.15916T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 972986	NC_012920.1(MT-TT):m.15917C>T	MT-TT	Single nucleotide variant	not provided	Gnot provided
Select item 690235	NC_012920.1(MT-CYB):m.15921T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 39575	m.15923A>G	MT-TT	Single nucleotide variant	Mitochondrial disease +7 more	GConflicting classifications of pathogenicity
Select item 690236	NC_012920.1(MT-CYB):m.15924A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690237	NC_012920.1(MT-CYB):m.15925C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690238	NC_012920.1(MT-CYB):m.15926C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 143902	NC_012920.1:m.15927G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 441111	NC_012920.1:m.15928G>T	MT-TT	Single nucleotide variant	Mitochondrial DNA-related disorder	Gnot provided
Select item 143903	NC_012920.1:m.15928G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690239	NC_012920.1(MT-CYB):m.15929A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690240	NC_012920.1(MT-CYB):m.15930G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690241	NC_012920.1(MT-CYB):m.15932T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 143904	NC_012920.1:m.15932T>G	MT-TT	Single nucleotide variant	Neoplasm of ovary	GUncertain significance
Select item 690245	NC_012920.1(MT-CYB):m.15937del	MT-TT	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690242	NC_012920.1(MT-CYB):m.15935A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690244	NC_012920.1(MT-CYB):m.15936A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690243	NC_012920.1(MT-CYB):m.15936A>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690247	NC_012920.1(MT-CYB):m.15937A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690246	NC_012920.1(MT-CYB):m.15937A>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690248	NC_012920.1(MT-CYB):m.15938C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690254	NC_012920.1(MT-CYB):m.15944dup	MT-TT	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690249	NC_012920.1(MT-CYB):m.15939C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690251	NC_012920.1(MT-CYB):m.15944del	MT-TT	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690250	NC_012920.1(MT-CYB):m.15940T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690252	NC_012920.1(MT-CYB):m.15941T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690253	NC_012920.1(MT-CYB):m.15942T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 143905	NC_012920.1:m.15943T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690255	NC_012920.1(MT-CYB):m.15944T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690256	NC_012920.1(MT-CYB):m.15946C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690257	NC_012920.1(MT-CYB):m.15947A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690258	NC_012920.1(MT-CYB):m.15949G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9559	m.15950G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690259	NC_012920.1(MT-CYB):m.15951A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690260	NC_012920.1(MT-CYB):m.15952C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign

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Items: 58