MT-TI[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689872	NC_012920.1(MT-CYB):m.4264G>A	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9602	m.4269A>G	MT-TI	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 235012	NC_012920.1:m.4277T>C	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9604	m.4284G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9605	m.4290T>C	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9607	m.4291T>C	MT-TI	Single nucleotide variant	Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	GPathogenic
Select item 9603	m.4295A>G	MT-TI	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 689873	NC_012920.1(MT-CYB):m.4296G>A	MT-TI	Single nucleotide variant	MERRF syndrome +1 more	GPathogenic/Likely pathogenic
Select item 689874	NC_012920.1(MT-CYB):m.4298G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9606	m.4300A>G	MT-TI	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 618731	NC_012920.1:m.4305A>G	MT-TI	Single nucleotide variant	not provided	GUncertain significance
Select item 689875	NC_012920.1(MT-CYB):m.4308G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689876	NC_012920.1(MT-CYB):m.4310A>G	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689877	NC_012920.1(MT-CYB):m.4312C>T	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689881	NC_012920.1(MT-CYB):m.4314del	MT-TI	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689878	NC_012920.1(MT-CYB):m.4313T>C	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689880	NC_012920.1(MT-CYB):m.4314T>A	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689879	NC_012920.1(MT-CYB):m.4314T>C	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 235015	NC_012920.1:m.4317delA	MT-TI	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 235013	NC_012920.1:m.4315A>G	MT-TI	Single nucleotide variant	not specified	GUncertain significance
Select item 235014	NC_012920.1:m.4316A>G	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9601	m.4317A>G	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689882	NC_012920.1(MT-CYB):m.4318C>T	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689884	NC_012920.1(MT-CYB):m.4320C>A	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689883	NC_012920.1(MT-CYB):m.4320C>T	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689885	NC_012920.1(MT-CYB):m.4327T>C	MT-TI	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: 27