4553[geneid] - ClinVar

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Items: 23

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6899491.	NC_012920.1(MT-CYB):m.5590G>A GRCh37: ChrMT:5590 GRCh38: ChrMT:5590	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 96252.	m.5591G>A GRCh37: ChrMT:5591 GRCh38: ChrMT:5591	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6899503.	NC_012920.1(MT-CYB):m.5592A>G GRCh37: ChrMT:5592 GRCh38: ChrMT:5592	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899514.	NC_012920.1(MT-CYB):m.5600A>G GRCh37: ChrMT:5600 GRCh38: ChrMT:5600	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899525.	NC_012920.1(MT-CYB):m.5601C>T GRCh37: ChrMT:5601 GRCh38: ChrMT:5601	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899536.	NC_012920.1(MT-CYB):m.5603C>T GRCh37: ChrMT:5603 GRCh38: ChrMT:5603	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899547.	NC_012920.1(MT-CYB):m.5604C>T GRCh37: ChrMT:5604 GRCh38: ChrMT:5604	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899558.	NC_012920.1(MT-CYB):m.5605A>G GRCh37: ChrMT:5605 GRCh38: ChrMT:5605	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899569.	NC_012920.1(MT-CYB):m.5607T>C GRCh37: ChrMT:5607 GRCh38: ChrMT:5607	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68995710.	NC_012920.1(MT-CYB):m.5608C>T GRCh37: ChrMT:5608 GRCh38: ChrMT:5608	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68995811.	NC_012920.1(MT-CYB):m.5609T>C GRCh37: ChrMT:5609 GRCh38: ChrMT:5609	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 16237012.	NC_012920.1:m.5610G>A GRCh37: ChrMT:5610 GRCh38: ChrMT:5610	MT-TA	Inborn mitochondrial myopathy	Pathogenic (Dec 15, 2014)	no assertion criteria provided
Select item 168490913.	NC_012920.1(MT-TA):m.5613T>C GRCh37: ChrMT:5613 GRCh38: ChrMT:5613	MT-TA	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 68995914.	NC_012920.1(MT-CYB):m.5618T>C GRCh37: ChrMT:5618 GRCh38: ChrMT:5618	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68996015.	NC_012920.1(MT-CYB):m.5619G>A GRCh37: ChrMT:5619 GRCh38: ChrMT:5619	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68996116.	NC_012920.1(MT-CYB):m.5628T>C GRCh37: ChrMT:5628 GRCh38: ChrMT:5628	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 16236917.	NC_012920.1:m.5631G>A GRCh37: ChrMT:5631 GRCh38: ChrMT:5631	MT-TA	Mitochondrial disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 68996218.	NC_012920.1(MT-CYB):m.5633C>T GRCh37: ChrMT:5633 GRCh38: ChrMT:5633	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68996319.	NC_012920.1(MT-CYB):m.5640A>G GRCh37: ChrMT:5640 GRCh38: ChrMT:5640	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68996420.	NC_012920.1(MT-CYB):m.5645G>A GRCh37: ChrMT:5645 GRCh38: ChrMT:5645	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 962421.	m.5650G>A GRCh37: ChrMT:5650 GRCh38: ChrMT:5650	MT-TA	Mitochondrial disease	Likely pathogenic (Oct 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68996522.	NC_012920.1(MT-CYB):m.5654T>C GRCh37: ChrMT:5654 GRCh38: ChrMT:5654	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68996623.	NC_012920.1(MT-CYB):m.5655T>C GRCh37: ChrMT:5655 GRCh38: ChrMT:5655	MT-TA	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 23