4578[geneid] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155882	NC_012920.1: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-CYB):m.5536_5537insT	MT-TW	Insertion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 9555	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	m.5545C>T	MT-TW	Single nucleotide variant	Encephalocardiomyopathy, mitochondrial	GPathogenic
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: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:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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Items: 38