4569[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 95781.	m.4409T>C GRCh37: ChrMT:4409 GRCh38: ChrMT:4409	MT-TM		Inborn mitochondrial myopathy	Pathogenic (Dec 5, 2008)	no assertion criteria provided
Select item 6899092.	NC_012920.1(MT-CYB):m.4417A>G GRCh37: ChrMT:4417 GRCh38: ChrMT:4417	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899103.	NC_012920.1(MT-CYB):m.4418T>C GRCh37: ChrMT:4418 GRCh38: ChrMT:4418	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899114.	NC_012920.1(MT-CYB):m.4429G>A GRCh37: ChrMT:4429 GRCh38: ChrMT:4429	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6899125.	NC_012920.1(MT-CYB):m.4435A>G GRCh37: ChrMT:4435 GRCh38: ChrMT:4435	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899136.	NC_012920.1(MT-CYB):m.4437C>T GRCh37: ChrMT:4437 GRCh38: ChrMT:4437	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 9864407.	NC_012920.1(MT-TM):m.4450G>A GRCh37: ChrMT:4450 GRCh38: ChrMT:4450	MT-TM		Mitochondrial disease	Likely pathogenic (Feb 27, 2023)	reviewed by expert panel FDA Recognized Database
Select item 6899148.	NC_012920.1(MT-CYB):m.4451T>G GRCh37: ChrMT:4451 GRCh38: ChrMT:4451	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6899159.	NC_012920.1(MT-CYB):m.4452T>C GRCh37: ChrMT:4452 GRCh38: ChrMT:4452	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68991710.	NC_012920.1(MT-CYB):m.4454T>A GRCh37: ChrMT:4454 GRCh38: ChrMT:4454	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68991611.	NC_012920.1(MT-CYB):m.4454T>C GRCh37: ChrMT:4454 GRCh38: ChrMT:4454	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68991812.	NC_012920.1(MT-CYB):m.4455A>G GRCh37: ChrMT:4455 GRCh38: ChrMT:4455	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68991913.	NC_012920.1(MT-CYB):m.4456C>T GRCh37: ChrMT:4456 GRCh38: ChrMT:4456	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68992014.	NC_012920.1(MT-CYB):m.4464G>A GRCh37: ChrMT:4464 GRCh38: ChrMT:4464	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68992115.	NC_012920.1(MT-CYB):m.4466A>G GRCh37: ChrMT:4466 GRCh38: ChrMT:4466	MT-TM		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter