4577[geneid] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9548	m.1606G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689833	NC_012920.1(MT-CYB):m.1607T>C	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689834	NC_012920.1(MT-CYB):m.1608G>A	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1325837	NC_012920.1(MT-ND1):m.1616A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689835	NC_012920.1(MT-CYB):m.1617C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689836	NC_012920.1(MT-CYB):m.1618A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689837	NC_012920.1(MT-CYB):m.1619_1620insT	MT-TV	Insertion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 618222	NC_012920.1(MT-CYB):m.1619C>T	MT-TV	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9549	m.1624C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 689838	NC_012920.1(MT-CYB):m.1628C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689839	NC_012920.1(MT-CYB):m.1629A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689840	NC_012920.1(MT-CYB):m.1630A>G	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689841	NC_012920.1(MT-CYB):m.1631C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689842	NC_012920.1(MT-CYB):m.1636A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689843	NC_012920.1(MT-CYB):m.1638T>C	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689844	NC_012920.1(MT-CYB):m.1640A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689845	NC_012920.1(MT-CYB):m.1641G>A	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684926	NC_012920.1(MT-TV):m.1642G>A	MT-TV	Single nucleotide variant	not specified	GUncertain significance
Select item 684496	NC_012920.1(MT-CYB):m.1643A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689846	NC_012920.1(MT-CYB):m.1644G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155890	NC_012920.1:m.1644G>T	MT-TV	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 689847	NC_012920.1(MT-CYB):m.1646T>C	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689848	NC_012920.1(MT-CYB):m.1654T>C	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689849	NC_012920.1(MT-CYB):m.1656del	MT-TV	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 370044	NC_012920.1:m.1655A>G	MT-TV	Single nucleotide variant	Epilepsy +3 more	GUncertain significance
Select item 930365	NC_012920.1(MT-ND1):m.1658_1659dup	MT-TV	Duplication	See cases	GUncertain significance
Select item 689850	NC_012920.1(MT-CYB):m.1657C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689851	NC_012920.1(MT-CYB):m.1658T>C	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689852	NC_012920.1(MT-CYB):m.1659T>C	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 370043	NC_012920.1:m.1661A>G	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689853	NC_012920.1(MT-CYB):m.1664G>A	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689854	NC_012920.1(MT-CYB):m.1670A>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign

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Items: 32