4558[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	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	GPathogenic
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	m.622G>A	MT-TF	Single nucleotide variant	Mitochondrial disease	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38