4576[geneid] - ClinVar

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Items: 58

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6902121.	NC_012920.1(MT-CYB):m.15888G>A GRCh37: ChrMT:15888 GRCh38: ChrMT:15888	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6902132.	NC_012920.1(MT-CYB):m.15889T>C GRCh37: ChrMT:15889 GRCh38: ChrMT:15889	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6902143.	NC_012920.1(MT-CYB):m.15890C>T GRCh37: ChrMT:15890 GRCh38: ChrMT:15890	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 1439014.	NC_012920.1:m.15890C>A GRCh37: ChrMT:15890 GRCh38: ChrMT:15890	MT-TT	Neoplasm of ovary	Uncertain significance (Aug 29, 2023)	criteria provided, single submitter
Select item 6902155.	NC_012920.1(MT-CYB):m.15891C>T GRCh37: ChrMT:15891 GRCh38: ChrMT:15891	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6902166.	NC_012920.1(MT-CYB):m.15892T>C GRCh37: ChrMT:15892 GRCh38: ChrMT:15892	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6902177.	NC_012920.1(MT-CYB):m.15893T>C GRCh37: ChrMT:15893 GRCh38: ChrMT:15893	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6902188.	NC_012920.1(MT-CYB):m.15894G>A GRCh37: ChrMT:15894 GRCh38: ChrMT:15894	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6902199.	NC_012920.1(MT-CYB):m.15895T>C GRCh37: ChrMT:15895 GRCh38: ChrMT:15895	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022010.	NC_012920.1(MT-CYB):m.15897G>A GRCh37: ChrMT:15897 GRCh38: ChrMT:15897	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69022111.	NC_012920.1(MT-CYB):m.15900T>C GRCh37: ChrMT:15900 GRCh38: ChrMT:15900	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022212.	NC_012920.1(MT-CYB):m.15902A>G GRCh37: ChrMT:15902 GRCh38: ChrMT:15902	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022313.	NC_012920.1(MT-CYB):m.15903A>G GRCh37: ChrMT:15903 GRCh38: ChrMT:15903	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022414.	NC_012920.1(MT-CYB):m.15904C>T GRCh37: ChrMT:15904 GRCh38: ChrMT:15904	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022515.	NC_012920.1(MT-CYB):m.15905T>C GRCh37: ChrMT:15905 GRCh38: ChrMT:15905	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022616.	NC_012920.1(MT-CYB):m.15907A>G GRCh37: ChrMT:15907 GRCh38: ChrMT:15907	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022717.	NC_012920.1(MT-CYB):m.15908T>C GRCh37: ChrMT:15908 GRCh38: ChrMT:15908	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69022918.	NC_012920.1(MT-CYB):m.15909A>T GRCh37: ChrMT:15909 GRCh38: ChrMT:15909	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69022819.	NC_012920.1(MT-CYB):m.15909A>G GRCh37: ChrMT:15909 GRCh38: ChrMT:15909	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023020.	NC_012920.1(MT-CYB):m.15911A>G GRCh37: ChrMT:15911 GRCh38: ChrMT:15911	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023121.	NC_012920.1(MT-CYB):m.15913C>T GRCh37: ChrMT:15913 GRCh38: ChrMT:15913	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023222.	NC_012920.1(MT-CYB):m.15914A>G GRCh37: ChrMT:15914 GRCh38: ChrMT:15914	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023323.	NC_012920.1(MT-CYB):m.15915G>A GRCh37: ChrMT:15915 GRCh38: ChrMT:15915	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69023424.	NC_012920.1(MT-CYB):m.15916T>C GRCh37: ChrMT:15916 GRCh38: ChrMT:15916	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 97298625.	NC_012920.1(MT-TT):m.15917C>T GRCh37: ChrMT:15917 GRCh38: ChrMT:15917	MT-TT	not provided	not provided	no assertion provided
Select item 69023526.	NC_012920.1(MT-CYB):m.15921T>C GRCh37: ChrMT:15921 GRCh38: ChrMT:15921	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 3957527.	m.15923A>G GRCh37: ChrMT:15923 GRCh38: ChrMT:15923	MT-TT	Mitochondrial disease, Infantile onset, Sudden cardiac death, Failure to thrive, Constipation, Generalized hypotonia, Neonatal onset, Jaundice	Conflicting interpretations of pathogenicity (Mar 13, 2019)	criteria provided, conflicting interpretations
Select item 69023628.	NC_012920.1(MT-CYB):m.15924A>G GRCh37: ChrMT:15924 GRCh38: ChrMT:15924	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023729.	NC_012920.1(MT-CYB):m.15925C>T GRCh37: ChrMT:15925 GRCh38: ChrMT:15925	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023830.	NC_012920.1(MT-CYB):m.15926C>T GRCh37: ChrMT:15926 GRCh38: ChrMT:15926	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 14390231.	NC_012920.1:m.15927G>A GRCh37: ChrMT:15927 GRCh38: ChrMT:15927	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 44111132.	NC_012920.1:m.15928G>T GRCh37: ChrMT:15928 GRCh38: ChrMT:15928	MT-TT	Mitochondrial DNA-related disorder	not provided	no assertion provided
Select item 14390333.	NC_012920.1:m.15928G>A GRCh37: ChrMT:15928 GRCh38: ChrMT:15928	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69023934.	NC_012920.1(MT-CYB):m.15929A>G GRCh37: ChrMT:15929 GRCh38: ChrMT:15929	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024035.	NC_012920.1(MT-CYB):m.15930G>A GRCh37: ChrMT:15930 GRCh38: ChrMT:15930	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024136.	NC_012920.1(MT-CYB):m.15932T>C GRCh37: ChrMT:15932 GRCh38: ChrMT:15932	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 14390437.	NC_012920.1:m.15932T>G GRCh37: ChrMT:15932 GRCh38: ChrMT:15932	MT-TT	Neoplasm of ovary	Uncertain significance (Aug 29, 2023)	criteria provided, single submitter
Select item 69024538.	NC_012920.1(MT-CYB):m.15937del GRCh37: ChrMT:15934 GRCh38: ChrMT:15934	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024239.	NC_012920.1(MT-CYB):m.15935A>G GRCh37: ChrMT:15935 GRCh38: ChrMT:15935	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024440.	NC_012920.1(MT-CYB):m.15936A>G GRCh37: ChrMT:15936 GRCh38: ChrMT:15936	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024341.	NC_012920.1(MT-CYB):m.15936A>T GRCh37: ChrMT:15936 GRCh38: ChrMT:15936	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024742.	NC_012920.1(MT-CYB):m.15937A>G GRCh37: ChrMT:15937 GRCh38: ChrMT:15937	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024643.	NC_012920.1(MT-CYB):m.15937A>T GRCh37: ChrMT:15937 GRCh38: ChrMT:15937	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024844.	NC_012920.1(MT-CYB):m.15938C>T GRCh37: ChrMT:15938 GRCh38: ChrMT:15938	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025445.	NC_012920.1(MT-CYB):m.15944dup GRCh37: ChrMT:15939-15940 GRCh38: ChrMT:15939-15940	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69024946.	NC_012920.1(MT-CYB):m.15939C>T GRCh37: ChrMT:15939 GRCh38: ChrMT:15939	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025147.	NC_012920.1(MT-CYB):m.15944del GRCh37: ChrMT:15940 GRCh38: ChrMT:15940	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025048.	NC_012920.1(MT-CYB):m.15940T>C GRCh37: ChrMT:15940 GRCh38: ChrMT:15940	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025249.	NC_012920.1(MT-CYB):m.15941T>C GRCh37: ChrMT:15941 GRCh38: ChrMT:15941	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025350.	NC_012920.1(MT-CYB):m.15942T>C GRCh37: ChrMT:15942 GRCh38: ChrMT:15942	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 14390551.	NC_012920.1:m.15943T>C GRCh37: ChrMT:15943 GRCh38: ChrMT:15943	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025552.	NC_012920.1(MT-CYB):m.15944T>C GRCh37: ChrMT:15944 GRCh38: ChrMT:15944	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025653.	NC_012920.1(MT-CYB):m.15946C>T GRCh37: ChrMT:15946 GRCh38: ChrMT:15946	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025754.	NC_012920.1(MT-CYB):m.15947A>G GRCh37: ChrMT:15947 GRCh38: ChrMT:15947	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69025855.	NC_012920.1(MT-CYB):m.15949G>A GRCh37: ChrMT:15949 GRCh38: ChrMT:15949	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 955956.	m.15950G>A GRCh37: ChrMT:15950 GRCh38: ChrMT:15950	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69025957.	NC_012920.1(MT-CYB):m.15951A>G GRCh37: ChrMT:15951 GRCh38: ChrMT:15951	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69026058.	NC_012920.1(MT-CYB):m.15952C>T GRCh37: ChrMT:15952 GRCh38: ChrMT:15952	MT-TT	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 58