4511[geneid] - ClinVar

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Items: 33

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6899811.	NC_012920.1(MT-CYB):m.5772G>A GRCh37: ChrMT:5772 GRCh38: ChrMT:5772	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899822.	NC_012920.1(MT-CYB):m.5773G>A GRCh37: ChrMT:5773 GRCh38: ChrMT:5773	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899843.	NC_012920.1(MT-CYB):m.5774T>G GRCh37: ChrMT:5774 GRCh38: ChrMT:5774	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899834.	NC_012920.1(MT-CYB):m.5774T>C GRCh37: ChrMT:5774 GRCh38: ChrMT:5774	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899855.	NC_012920.1(MT-CYB):m.5775T>C GRCh37: ChrMT:5775 GRCh38: ChrMT:5775	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899866.	NC_012920.1(MT-CYB):m.5780G>A GRCh37: ChrMT:5780 GRCh38: ChrMT:5780	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 2092127.	NC_012920.1:m.5782_13922del8141 GRCh37: ChrMT:5782-13922 GRCh38: ChrMT:5782-13922	MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TR, MT-TS1, MT-TK, MT-TL2, MT-TS2, MT-TH, MT-TY, MT-ND4, MT-TG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3	Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 6899878.	NC_012920.1(MT-CYB):m.5783G>A GRCh37: ChrMT:5783 GRCh38: ChrMT:5783	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899909.	NC_012920.1(MT-CYB):m.5786dup GRCh37: ChrMT:5784-5785 GRCh38: ChrMT:5784-5785	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68998810.	NC_012920.1(MT-CYB):m.5785T>C GRCh37: ChrMT:5785 GRCh38: ChrMT:5785	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68998911.	NC_012920.1(MT-CYB):m.5786T>C GRCh37: ChrMT:5786 GRCh38: ChrMT:5786	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68999112.	NC_012920.1(MT-CYB):m.5788T>C GRCh37: ChrMT:5788 GRCh38: ChrMT:5788	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68999213.	NC_012920.1(MT-CYB):m.5791G>A GRCh37: ChrMT:5791 GRCh38: ChrMT:5791	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68999314.	NC_012920.1(MT-CYB):m.5793A>G GRCh37: ChrMT:5793 GRCh38: ChrMT:5793	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68999415.	NC_012920.1(MT-CYB):m.5794T>C GRCh37: ChrMT:5794 GRCh38: ChrMT:5794	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 20921316.	NC_012920.1:m.5794_14876del9083 GRCh37: ChrMT:5794-14876 GRCh38: ChrMT:5794-14876	MT-CYB, MT-ND3, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY, MT-ATP6, MT-ATP8, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-ND6, MT-TC, MT-TD, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TK	Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 68999517.	NC_012920.1(MT-CYB):m.5800A>G GRCh37: ChrMT:5800 GRCh38: ChrMT:5800	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68999618.	NC_012920.1(MT-CYB):m.5802T>C GRCh37: ChrMT:5802 GRCh38: ChrMT:5802	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68999719.	NC_012920.1(MT-CYB):m.5804A>G GRCh37: ChrMT:5804 GRCh38: ChrMT:5804	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 250511220.	NC_012920.1(MT-TC):m.5805A>G GRCh37: ChrMT:5805 GRCh38: ChrMT:5805	MT-TC	not provided	not provided	no assertion provided
Select item 68999821.	NC_012920.1(MT-CYB):m.5806T>C GRCh37: ChrMT:5806 GRCh38: ChrMT:5806	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68999922.	NC_012920.1(MT-CYB):m.5807A>G GRCh37: ChrMT:5807 GRCh38: ChrMT:5807	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69000023.	NC_012920.1(MT-CYB):m.5809G>A GRCh37: ChrMT:5809 GRCh38: ChrMT:5809	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69000124.	NC_012920.1(MT-CYB):m.5811A>G GRCh37: ChrMT:5811 GRCh38: ChrMT:5811	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69000225.	NC_012920.1(MT-CYB):m.5814T>A GRCh37: ChrMT:5814 GRCh38: ChrMT:5814	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 3000126.	m.5814T>C GRCh37: ChrMT:5814 GRCh38: ChrMT:5814	MT-TC	Mitochondrial disease	Likely benign (Jun 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 3000227.	m.5816A>G GRCh37: ChrMT:5816 GRCh38: ChrMT:5816	MT-TC	Dystonia, mitochondrial	Pathogenic (Aug 28, 2007)	no assertion criteria provided
Select item 69000328.	NC_012920.1(MT-CYB):m.5817C>T GRCh37: ChrMT:5817 GRCh38: ChrMT:5817	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69000429.	NC_012920.1(MT-CYB):m.5819T>C GRCh37: ChrMT:5819 GRCh38: ChrMT:5819	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69000530.	NC_012920.1(MT-CYB):m.5821G>A GRCh37: ChrMT:5821 GRCh38: ChrMT:5821	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69000631.	NC_012920.1(MT-CYB):m.5822G>A GRCh37: ChrMT:5822 GRCh38: ChrMT:5822	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69000732.	NC_012920.1(MT-CYB):m.5823A>G GRCh37: ChrMT:5823 GRCh38: ChrMT:5823	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69000833.	NC_012920.1(MT-CYB):m.5824G>A GRCh37: ChrMT:5824 GRCh38: ChrMT:5824	MT-TC	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 33