4578[geneid] - ClinVar

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

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 689922	NC_012920.1(MT-CYB):m.5514A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689923	NC_012920.1(MT-CYB):m.5515A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689924	NC_012920.1(MT-CYB):m.5516A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 9556	NC_012920.1(MT-TW):m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155882	NC_012920.1(MT-TW):m.5523T>G	MT-TW	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 689925	NC_012920.1(MT-CYB):m.5524T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689926	NC_012920.1(MT-CYB):m.5527A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689927	NC_012920.1(MT-CYB):m.5528T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689928	NC_012920.1(MT-CYB):m.5530C>T	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9557	m.5532G>A	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 689929	NC_012920.1(MT-TW):m.5536_5537insT	MT-TW	Insertion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9555	NC_012920.1(MT-TW):m.5537_5538insT	MT-TW	Insertion	not provided	GPathogenic
Select item 689930	NC_012920.1(MT-CYB):m.5538G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689932	NC_012920.1(MT-CYB):m.5539A>T	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689931	NC_012920.1(MT-CYB):m.5539A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689933	NC_012920.1(MT-CYB):m.5540G>A	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 689934	NC_012920.1(MT-CYB):m.5542C>T	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689935	NC_012920.1(MT-CYB):m.5543T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 689936	NC_012920.1(MT-CYB):m.5544T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9558	NC_012920.1(MT-TW):m.5545C>T	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9554	m.5549G>A	MT-TW	Single nucleotide variant	Mitochondrial encephalopathy	GPathogenic
Select item 689937	NC_012920.1(MT-CYB):m.5550C>T	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689938	NC_012920.1(MT-CYB):m.5553T>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 235498	NC_012920.1(MT-CYB):m.5553T>C	MT-TW	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 689939	NC_012920.1(MT-CYB):m.5554C>A	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 30007	m.5556G>A	MT-TW	Single nucleotide variant	Mitochondrial encephalomyopathy	GPathogenic
Select item 689940	NC_012920.1(MT-CYB):m.5557T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689941	NC_012920.1(MT-CYB):m.5558A>G	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 155884	NC_012920.1(MT-TW):m.5559A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689942	NC_012920.1(MT-CYB):m.5560G>A	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 441156	NC_012920.1:m.5561T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689943	NC_012920.1(MT-CYB):m.5563G>A	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689944	NC_012920.1(MT-CYB):m.5566A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689945	NC_012920.1(MT-CYB):m.5567T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689946	NC_012920.1(MT-CYB):m.5568A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689947	NC_012920.1(MT-CYB):m.5573A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689948	NC_012920.1(MT-CYB):m.5575T>C	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 3359048	NC_012920.1(MT-TW):m.5513G>A	MT-TW	Single nucleotide variant	New-onset refractory status epilepticus	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40