4511[geneid] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689981	NC_012920.1(MT-CYB):m.5772G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689982	NC_012920.1(MT-CYB):m.5773G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689984	NC_012920.1(MT-CYB):m.5774T>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689983	NC_012920.1(MT-CYB):m.5774T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689985	NC_012920.1(MT-CYB):m.5775T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689986	NC_012920.1(MT-CYB):m.5780G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 689987	NC_012920.1(MT-CYB):m.5783G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689990	NC_012920.1(MT-CYB):m.5786dup	MT-TC	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689988	NC_012920.1(MT-CYB):m.5785T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689989	NC_012920.1(MT-CYB):m.5786T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689991	NC_012920.1(MT-CYB):m.5788T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689992	NC_012920.1(MT-CYB):m.5791G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689993	NC_012920.1(MT-CYB):m.5793A>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689994	NC_012920.1(MT-CYB):m.5794T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 689995	NC_012920.1(MT-CYB):m.5800A>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689996	NC_012920.1(MT-CYB):m.5802T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689997	NC_012920.1(MT-CYB):m.5804A>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 2505112	NC_012920.1(MT-TC):m.5805A>G	MT-TC	Single nucleotide variant	not provided	Gnot provided
Select item 689998	NC_012920.1(MT-CYB):m.5806T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689999	NC_012920.1(MT-CYB):m.5807A>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690000	NC_012920.1(MT-CYB):m.5809G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690001	NC_012920.1(MT-CYB):m.5811A>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690002	NC_012920.1(MT-CYB):m.5814T>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 30001	m.5814T>C	MT-TC	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 30002	m.5816A>G	MT-TC	Single nucleotide variant	Dystonia, mitochondrial	GPathogenic
Select item 690003	NC_012920.1(MT-CYB):m.5817C>T	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690004	NC_012920.1(MT-CYB):m.5819T>C	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690005	NC_012920.1(MT-CYB):m.5821G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690006	NC_012920.1(MT-CYB):m.5822G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690007	NC_012920.1(MT-CYB):m.5823A>G	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690008	NC_012920.1(MT-CYB):m.5824G>A	MT-TC	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ND3, MT-ND4 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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Items: 34