4570[geneid] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689967	NC_012920.1(MT-CYB):m.5661A>G	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689968	NC_012920.1(MT-CYB):m.5662C>T	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689969	NC_012920.1(MT-CYB):m.5663C>T	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689970	NC_012920.1(MT-CYB):m.5664A>G	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689971	NC_012920.1(MT-CYB):m.5665A>G	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 560167	NC_012920.1:m.5667G>A	MT-TN	Single nucleotide variant	External ophthalmoplegia	GPathogenic
Select item 689972	NC_012920.1(MT-CYB):m.5669G>A	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689973	NC_012920.1(MT-CYB):m.5672T>C	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689974	NC_012920.1(MT-CYB):m.5673T>C	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689975	NC_012920.1(MT-CYB):m.5686A>T	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 986477	NC_012920.1(MT-TN):m.5690A>G	MT-TN	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9621	m.5692T>C	MT-TN	Single nucleotide variant	Ophthalmoplegia, isolated	GPathogenic
Select item 689976	NC_012920.1(MT-CYB):m.5693T>C	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 812543	NC_012920.1(MT-TN):m.5702A>G	MT-TN	Single nucleotide variant	Ptosis +1 more	GLikely pathogenic
Select item 9620	m.5703G>A	MT-TN	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 689977	NC_012920.1(MT-CYB):m.5705A>G	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689978	NC_012920.1(MT-CYB):m.5708C>A	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689979	NC_012920.1(MT-CYB):m.5711A>G	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689980	NC_012920.1(MT-CYB):m.5715A>G	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9622	m.5728T>C	MT-TN	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
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: 21