MT-TF[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689805	NC_012920.1(MT-CYB):m.578T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 689806	NC_012920.1(MT-CYB):m.579T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9573	NC_012920.1(MT-CYB):m.583G>A	MT-TF	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 30005	m.586G>A	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 689807	NC_012920.1(MT-CYB):m.588T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 870573	NC_012920.1(MT-CYB):m.590A>G	MT-TF	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1177637	NC_012920.1(MT-CYB):m.591C>T	MT-TF	Single nucleotide variant	Nephropathy, chronic tubulointerstitial +2 more	GPathogenic/Likely pathogenic
Select item 689808	NC_012920.1(MT-CYB):m.592C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689810	NC_012920.1(MT-CYB):m.595dup	MT-TF	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689809	NC_012920.1(MT-CYB):m.593T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689812	NC_012920.1(MT-CYB):m.595C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689811	NC_012920.1(MT-CYB):m.595C>A	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689813	NC_012920.1(MT-CYB):m.596T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689815	NC_012920.1(MT-CYB):m.597_598insT	MT-TF	Insertion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689814	NC_012920.1(MT-CYB):m.597C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689816	NC_012920.1(MT-CYB):m.603A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689817	NC_012920.1(MT-CYB):m.606A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 30006	NC_012920.1(MT-TF):m.608A>G	MT-TF	Single nucleotide variant	not specified	GUncertain significance
Select item 9574	m.611G>A	MT-TF	Single nucleotide variant	MERRF syndrome	GPathogenic
Select item 9577	m.616T>G	MT-TF	Single nucleotide variant	Epilepsy, mitochondrial	GPathogenic
Select item 9576	NC_012920.1(MT-CYB):m.616T>C	MT-TF	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689818	NC_012920.1(MT-CYB):m.618T>C	MT-TF	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 689819	NC_012920.1(MT-CYB):m.619T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689820	NC_012920.1(MT-CYB):m.621A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 9575	NC_012920.1(MT-TF):m.622G>A	MT-TF	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689821	NC_012920.1(MT-CYB):m.624C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689822	NC_012920.1(MT-CYB):m.628C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689824	NC_012920.1(MT-CYB):m.629T>A	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689823	NC_012920.1(MT-CYB):m.629T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689825	NC_012920.1(MT-CYB):m.630C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689826	NC_012920.1(MT-CYB):m.633A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689828	NC_012920.1(MT-CYB):m.634T>C	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689827	NC_012920.1(MT-CYB):m.634T>A	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689829	NC_012920.1(MT-CYB):m.635C>T	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 1684912	NC_012920.1(MT-TF):m.636A>G	MT-TF	Single nucleotide variant	not specified	GUncertain significance
Select item 689830	NC_012920.1(MT-CYB):m.643A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +3 more	GUncertain significance
Select item 689831	NC_012920.1(MT-CYB):m.644A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689832	NC_012920.1(MT-CYB):m.647A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
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

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Items: 39