C0162671[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 9549	NC_012920.1(MT-ND1):m.1624C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 1684926	NC_012920.1(MT-TV):m.1642G>A	MT-TV	Single nucleotide variant	not specified	GUncertain significance
Select item 689846	NC_012920.1(MT-CYB):m.1644G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Cerebral palsy +12 more	GPathogenic/Likely pathogenic
Select item 9594	NC_012920.1(MT-TL1):m.3252A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 9591	NC_012920.1(MT-TL1):m.3256C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9596	NC_012920.1(MT-TL1):m.3260A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9590	NC_012920.1(MT-TL1):m.3271T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 223247	NC_012920.1(MT-TL1):m.3291T>C	MT-ND1, MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155880	NC_012920.1(MT-ND1):m.3481G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GPathogenic/Likely pathogenic
Select item 9735	m.3949T>C	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 9616	NC_012920.1(MT-TQ):m.4332G>A	MT-TQ	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9556	NC_012920.1(MT-TW):m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155884	NC_012920.1(MT-TW):m.5559A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684904	NC_012920.1(MT-CO1):m.7023G>A	MT-CO1	Single nucleotide variant	not specified	GUncertain significance
Select item 9563	NC_012920.1(MT-TS1):m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 42226	NC_012920.1(MT-TS1):m.7471dup	MT-TS1	Duplication	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9566	NC_012920.1(MT-TS1):m.7511T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9562	NC_012920.1(MT-TS1):m.7512T>C	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GPathogenic/Likely pathogenic
Select item 9584	m.8296A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 2583105	NC_012920.1(MT-TK):m.8316T>C	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 9579	NC_012920.1(MT-TK):m.8344A>G	MT-TK	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9580	m.8356T>C	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9581	NC_012920.1(MT-TK):m.8363G>A	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693252	NC_012920.1(MT-CO3):m.9957T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 1684913	NC_012920.1(MT-TH):m.12146A>G	MT-TH	Single nucleotide variant	not specified	GUncertain significance
Select item 9610	NC_012920.1(MT-TH):m.12147G>A	MT-TH	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9561	m.12207G>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 2583104	NC_012920.1(MT-TL2):m.12299A>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 9699	m.12770A>G	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 9703	NC_012920.1(MT-ND5):m.13042G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9701	NC_012920.1(MT-ND5):m.13084A>T	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9702	NC_012920.1(MT-ND5):m.13513G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 155889	NC_012920.1(MT-ND5):m.13514A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 618218	NC_012920.1(MT-ND5):m.13528A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9692	NC_012920.1(MT-ND6):m.14453G>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 2583106	NC_012920.1(MT-CYB):m.14864T>C	MT-CYB	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided

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