ClinVar for MedGen (Select 56485) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25018081.	NC_012920.1(MT-CYB):m.15485C>T GRCh37: ChrMT:15485 GRCh38: ChrMT:15485	MT-CYB		Progressive external ophthalmoplegia, Kearns-Sayre syndrome, Leber optic atrophy, Leigh syndrome, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, NARP syndrome	not provided	no assertion provided
Select item 24430682.	NC_012920.1(MT-ND5):m.12923G>A GRCh37: ChrMT:12923 GRCh38: ChrMT:12923	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Leber optic atrophy, Leigh syndrome	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 17096183.	NC_012920.1(MT-ND5):m.13289G>A GRCh37: ChrMT:13289 GRCh38: ChrMT:13289	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 17090504.	NC_012920.1(MT-ND5):m.14021T>C GRCh37: ChrMT:14021 GRCh38: ChrMT:14021	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 17089955.	NC_012920.1(MT-ND5):m.13912C>T GRCh37: ChrMT:13912 GRCh38: ChrMT:13912	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 17089736.	NC_012920.1(MT-CO3):m.9247G>C GRCh37: ChrMT:9247 GRCh38: ChrMT:9247	MT-CO3		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 13258377.	NC_012920.1(MT-ND1):m.1616A>G GRCh37: ChrMT:1616 GRCh38: ChrMT:1616	MT-TV		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 13128008.	NM_002693.3(POLG):c.895A>G (p.Met299Val) GRCh37: Chr15:89872302 GRCh38: Chr15:89329071	POLG, POLGARF	M299V	Progressive sclerosing poliodystrophy, not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6937269.	NC_012920.1(MT-ND6):m.14465G>A GRCh37: ChrMT:14465 GRCh38: ChrMT:14465	MT-ND6		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 69360410.	NC_012920.1(MT-ND5):m.13763C>T GRCh37: ChrMT:13763 GRCh38: ChrMT:13763	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69351611.	NC_012920.1:m.13094T>C GRCh37: ChrMT:13094 GRCh38: ChrMT:13094	MT-ND5		Mitochondrial disease	Pathogenic (Jul 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69351212.	NC_012920.1(MT-ND5):m.13046T>C GRCh37: ChrMT:13046 GRCh38: ChrMT:13046	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 69344013.	NC_012920.1(MT-ND5):m.12425del GRCh37: ChrMT:12418 GRCh38: ChrMT:12418	MT-ND5		Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Leber optic atrophy, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69242714.	NC_012920.1(MT-ND1):m.4142G>A GRCh37: ChrMT:4142 GRCh38: ChrMT:4142	MT-ND1		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 69236115.	NC_012920.1(MT-ND1):m.3502T>C GRCh37: ChrMT:3502 GRCh38: ChrMT:3502	MT-ND1		Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69234616.	NC_012920.1(MT-ND1):m.3380G>A GRCh37: ChrMT:3380 GRCh38: ChrMT:3380	MT-ND1		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 69027717.	NC_012920.1(MT-CYB):m.16021C>T GRCh37: ChrMT:16021 GRCh38: ChrMT:16021	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69027618.	NC_012920.1(MT-CYB):m.16018_16032dup GRCh37: ChrMT:16015-16016 GRCh38: ChrMT:16015-16016	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69027519.	NC_012920.1(MT-CYB):m.16017T>C GRCh37: ChrMT:16017 GRCh38: ChrMT:16017	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69027420.	NC_012920.1(MT-CYB):m.16013A>G GRCh37: ChrMT:16013 GRCh38: ChrMT:16013	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69027321.	NC_012920.1(MT-CYB):m.16011A>G GRCh37: ChrMT:16011 GRCh38: ChrMT:16011	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69027222.	NC_012920.1(MT-CYB):m.16003T>C GRCh37: ChrMT:16003 GRCh38: ChrMT:16003	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69027123.	NC_012920.1(MT-CYB):m.16002T>C GRCh37: ChrMT:16002 GRCh38: ChrMT:16002	MT-TP		MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69027024.	NC_012920.1(MT-CYB):m.15995G>A GRCh37: ChrMT:15995 GRCh38: ChrMT:15995	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69026925.	NC_012920.1(MT-CYB):m.15994A>G GRCh37: ChrMT:15994 GRCh38: ChrMT:15994	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69026826.	NC_012920.1(MT-CYB):m.15992A>T GRCh37: ChrMT:15992 GRCh38: ChrMT:15992	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69026727.	NC_012920.1(MT-CYB):m.15984T>C GRCh37: ChrMT:15984 GRCh38: ChrMT:15984	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69026628.	NC_012920.1(MT-CYB):m.15983T>C GRCh37: ChrMT:15983 GRCh38: ChrMT:15983	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69026529.	NC_012920.1(MT-CYB):m.15978C>T GRCh37: ChrMT:15978 GRCh38: ChrMT:15978	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69026430.	NC_012920.1(MT-CYB):m.15977C>T GRCh37: ChrMT:15977 GRCh38: ChrMT:15977	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69026331.	NC_012920.1(MT-CYB):m.15976T>C GRCh37: ChrMT:15976 GRCh38: ChrMT:15976	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69026232.	NC_012920.1(MT-CYB):m.15970T>C GRCh37: ChrMT:15970 GRCh38: ChrMT:15970	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69026133.	NC_012920.1(MT-CYB):m.15968T>C GRCh37: ChrMT:15968 GRCh38: ChrMT:15968	MT-TP		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69026034.	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
Select item 69025935.	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 69025836.	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 69025737.	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 69025638.	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 69025539.	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 69025440.	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 69025341.	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 69025242.	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 69025143.	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 69025044.	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 69024945.	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 69024846.	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 69024747.	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 69024648.	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 69024549.	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 69024450.	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 69024351.	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 69024252.	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 69024153.	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 69024054.	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 69023955.	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 69023856.	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 69023757.	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 69023658.	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 69023559.	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 69023460.	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 69023361.	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 69023262.	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 69023163.	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 69023064.	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 69022965.	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 69022866.	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 69022767.	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 69022668.	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 69022569.	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 69022470.	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 69022371.	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 69022272.	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 69022173.	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 69022074.	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 69021975.	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 69021876.	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 69021777.	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 69021678.	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 69021579.	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 69021480.	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 69021381.	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 69021282.	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 69021183.	NC_012920.1(MT-CYB):m.14739G>A GRCh37: ChrMT:14739 GRCh38: ChrMT:14739	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69021084.	NC_012920.1(MT-CYB):m.14729T>C GRCh37: ChrMT:14729 GRCh38: ChrMT:14729	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69020985.	NC_012920.1(MT-CYB):m.14727T>C GRCh37: ChrMT:14727 GRCh38: ChrMT:14727	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020886.	NC_012920.1(MT-CYB):m.14716C>T GRCh37: ChrMT:14716 GRCh38: ChrMT:14716	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020787.	NC_012920.1(MT-CYB):m.14710G>A GRCh37: ChrMT:14710 GRCh38: ChrMT:14710	MT-TE		Mitochondrial disease	Uncertain significance (Dec 15, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69020688.	NC_012920.1(MT-CYB):m.14696A>C GRCh37: ChrMT:14696 GRCh38: ChrMT:14696	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020589.	NC_012920.1(MT-CYB):m.14696A>G GRCh37: ChrMT:14696 GRCh38: ChrMT:14696	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020490.	NC_012920.1(MT-CYB):m.14693A>G GRCh37: ChrMT:14693 GRCh38: ChrMT:14693	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020391.	NC_012920.1(MT-CYB):m.14691C>T GRCh37: ChrMT:14691 GRCh38: ChrMT:14691	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020292.	NC_012920.1(MT-CYB):m.14690A>G GRCh37: ChrMT:14690 GRCh38: ChrMT:14690	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020193.	NC_012920.1(MT-CYB):m.14687A>G GRCh37: ChrMT:14687 GRCh38: ChrMT:14687	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69020094.	NC_012920.1(MT-CYB):m.14684C>T GRCh37: ChrMT:14684 GRCh38: ChrMT:14684	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69019995.	NC_012920.1(MT-CYB):m.14683A>G GRCh37: ChrMT:14683 GRCh38: ChrMT:14683	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69019896.	NC_012920.1(MT-CYB):m.14681G>A GRCh37: ChrMT:14681 GRCh38: ChrMT:14681	MT-TE		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69019797.	NC_012920.1(MT-CYB):m.12335T>C GRCh37: ChrMT:12335 GRCh38: ChrMT:12335	MT-TL2		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69019698.	NC_012920.1(MT-CYB):m.12318G>A GRCh37: ChrMT:12318 GRCh38: ChrMT:12318	MT-TL2		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69019599.	NC_012920.1(MT-CYB):m.12311T>C GRCh37: ChrMT:12311 GRCh38: ChrMT:12311	MT-TL2		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 690194100.	NC_012920.1(MT-CYB):m.12310dup GRCh37: ChrMT:12305-12306 GRCh38: ChrMT:12305-12306	MT-TL2		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter

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