MT-TL2[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430687	NC_012920.1:m.12271T>C	MT-TL2	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 690180	NC_012920.1(MT-CYB):m.12273A>G	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690181	NC_012920.1(MT-CYB):m.12276G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690182	NC_012920.1(MT-CYB):m.12278T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GConflicting classifications of pathogenicity
Select item 690184	NC_012920.1(MT-CYB):m.12279A>T	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690183	NC_012920.1(MT-CYB):m.12279A>G	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690185	NC_012920.1(MT-CYB):m.12280A>G	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690186	NC_012920.1(MT-CYB):m.12281C>T	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 430688	NC_012920.1:m.12283G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 690187	NC_012920.1(MT-CYB):m.12285T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690188	NC_012920.1(MT-CYB):m.12291T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690189	NC_012920.1(MT-CYB):m.12293G>A	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 986494	NC_012920.1(MT-TL2):m.12294G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690190	NC_012920.1(MT-CYB):m.12295T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9588	m.12297T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 2583104	NC_012920.1(MT-TL2):m.12299A>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 690192	NC_012920.1(MT-CYB):m.12302C>T	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690191	NC_012920.1(MT-CYB):m.12302C>A	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690194	NC_012920.1(MT-CYB):m.12310dup	MT-TL2	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690193	NC_012920.1(MT-CYB):m.12308A>G	MT-TL2	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 690195	NC_012920.1(MT-CYB):m.12311T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9586	NC_012920.1(MT-TL2):m.12315G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986496	NC_012920.1(MT-TL2):m.12316G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1684920	NC_012920.1(MT-TL2):m.12317T>C	MT-TL2	Single nucleotide variant	not specified	GUncertain significance
Select item 690196	NC_012920.1(MT-CYB):m.12318G>A	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9587	NC_012920.1(MT-TL2):m.12320A>G	MT-TL2	Single nucleotide variant	Inborn mitochondrial myopathy	GPathogenic
Select item 690197	NC_012920.1(MT-CYB):m.12335T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic

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Items: 27