4566[geneid] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
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 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 430674	NC_012920.1(MT-TS1):m.6005_11222del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430677	NC_012920.1(MT-TR):m.7731_11256del	MT-ATP6, MT-ATP8 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9584	m.8296A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690062	NC_012920.1(MT-CYB):m.8298T>C	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690063	NC_012920.1(MT-CYB):m.8299G>A	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 690064	NC_012920.1(MT-CYB):m.8300T>C	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690065	NC_012920.1(MT-CYB):m.8301A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1807275	NC_012920.1(MT-TK):m.8302A>G	MT-TK	Single nucleotide variant	not provided	GUncertain significance
Select item 986422	NC_012920.1(MT-TK):m.8306T>C	MT-TK	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690066	NC_012920.1(MT-CYB):m.8308A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690068	NC_012920.1(MT-CYB):m.8311T>A	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690067	NC_012920.1(MT-CYB):m.8311T>C	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9583	NC_012920.1(MT-TK):m.8313G>A	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690069	NC_012920.1(MT-CYB):m.8315A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
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 690070	NC_012920.1(MT-TK):m.8319A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GConflicting classifications of pathogenicity
Select item 1684915	NC_012920.1(MT-TK):m.8326A>G	MT-TK	Single nucleotide variant	not specified	GUncertain significance
Select item 1684916	NC_012920.1(MT-TK):m.8328G>A	MT-TK	Single nucleotide variant	not specified	GUncertain significance
Select item 690071	NC_012920.1(MT-CYB):m.8331A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690072	NC_012920.1(MT-CYB):m.8337T>C	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690073	NC_012920.1(MT-CYB):m.8338A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 986424	NC_012920.1(MT-TK):m.8340G>A	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690074	NC_012920.1(MT-CYB):m.8340_8341insT	MT-TK	Insertion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9582	NC_012920.1(MT-TK):m.8342G>A	MT-TK	Single nucleotide variant	not specified	GUncertain significance
Select item 690075	NC_012920.1(MT-CYB):m.8343A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9579	NC_012920.1(MT-TK):m.8344A>G	MT-TK	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 690076	NC_012920.1(MT-CYB):m.8345C>T	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690077	NC_012920.1(MT-CYB):m.8346C>A	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690078	NC_012920.1(MT-CYB):m.8347A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690079	NC_012920.1(MT-TK):m.8348A>G	MT-TK	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 690080	NC_012920.1(MT-CYB):m.8349C>T	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690081	NC_012920.1(MT-CYB):m.8350A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 9580	m.8356T>C	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690082	NC_012920.1(MT-CYB):m.8358A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690083	NC_012920.1(MT-CYB):m.8360A>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9585	m.8361G>A	MT-TK	Single nucleotide variant	MERRF syndrome	GPathogenic
Select item 690084	NC_012920.1(MT-CYB):m.8362T>G	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
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 690085	NC_012920.1(MT-CYB):m.8364A>T	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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Items: 47