4572[geneid] - ClinVar

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Items: 28

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 96161.	m.4332G>A GRCh37: ChrMT:4332 GRCh38: ChrMT:4332	MT-TQ	Mitochondrial disease	Uncertain significance (Jan 23, 2023)	reviewed by expert panel FDA Recognized Database
Select item 6898862.	NC_012920.1(MT-CYB):m.4335C>T GRCh37: ChrMT:4335 GRCh38: ChrMT:4335	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 96153.	m.4336T>C GRCh37: ChrMT:4336 GRCh38: ChrMT:4336	MT-TQ	not specified, not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Aug 17, 2020)	criteria provided, conflicting interpretations
Select item 6898874.	NC_012920.1(MT-CYB):m.4339G>A GRCh37: ChrMT:4339 GRCh38: ChrMT:4339	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6898885.	NC_012920.1(MT-CYB):m.4340A>G GRCh37: ChrMT:4340 GRCh38: ChrMT:4340	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898896.	NC_012920.1(MT-CYB):m.4343A>G GRCh37: ChrMT:4343 GRCh38: ChrMT:4343	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898907.	NC_012920.1(MT-CYB):m.4350C>T GRCh37: ChrMT:4350 GRCh38: ChrMT:4350	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898918.	NC_012920.1(MT-CYB):m.4353T>C GRCh37: ChrMT:4353 GRCh38: ChrMT:4353	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898929.	NC_012920.1(MT-CYB):m.4360G>A GRCh37: ChrMT:4360 GRCh38: ChrMT:4360	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 23501710.	NC_012920.1:m.4363T>C GRCh37: ChrMT:4363 GRCh38: ChrMT:4363	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 961411.	m.4369_4370insA GRCh37: ChrMT:4365-4366 GRCh38: ChrMT:4365-4366	MT-TQ	Myopathy	Pathogenic (Oct 1, 2000)	no assertion criteria provided
Select item 68989312.	NC_012920.1(MT-CYB):m.4370T>C GRCh37: ChrMT:4370 GRCh38: ChrMT:4370	MT-TQ	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 68989413.	NC_012920.1(MT-CYB):m.4371T>C GRCh37: ChrMT:4371 GRCh38: ChrMT:4371	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68989514.	NC_012920.1(MT-CYB):m.4372C>T GRCh37: ChrMT:4372 GRCh38: ChrMT:4372	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 68989615.	NC_012920.1(MT-CYB):m.4373T>C GRCh37: ChrMT:4373 GRCh38: ChrMT:4373	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68989716.	NC_012920.1(MT-CYB):m.4375C>T GRCh37: ChrMT:4375 GRCh38: ChrMT:4375	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68989817.	NC_012920.1(MT-CYB):m.4381A>G GRCh37: ChrMT:4381 GRCh38: ChrMT:4381	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990018.	NC_012920.1(MT-CYB):m.4384T>A GRCh37: ChrMT:4384 GRCh38: ChrMT:4384	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68989919.	NC_012920.1(MT-CYB):m.4384T>C GRCh37: ChrMT:4384 GRCh38: ChrMT:4384	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990220.	NC_012920.1(MT-CYB):m.4385A>G GRCh37: ChrMT:4385 GRCh38: ChrMT:4385	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990121.	NC_012920.1(MT-CYB):m.4385A>T GRCh37: ChrMT:4385 GRCh38: ChrMT:4385	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990322.	NC_012920.1(MT-CYB):m.4386T>C GRCh37: ChrMT:4386 GRCh38: ChrMT:4386	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990423.	NC_012920.1(MT-CYB):m.4387C>T GRCh37: ChrMT:4387 GRCh38: ChrMT:4387	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 23543824.	NC_012920.1(MT-TQ):m.4388A>G GRCh37: ChrMT:4388 GRCh38: ChrMT:4388	MT-TQ	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 68990525.	NC_012920.1(MT-CYB):m.4394C>A GRCh37: ChrMT:4394 GRCh38: ChrMT:4394	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990626.	NC_012920.1(MT-CYB):m.4395A>G GRCh37: ChrMT:4395 GRCh38: ChrMT:4395	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68990727.	NC_012920.1(MT-CYB):m.4399T>C GRCh37: ChrMT:4399 GRCh38: ChrMT:4399	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68990828.	NC_012920.1(MT-CYB):m.4400A>G GRCh37: ChrMT:4400 GRCh38: ChrMT:4400	MT-TQ	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter

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Items: 28