4566[geneid] - ClinVar

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

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	Kearns-Sayre syndrome +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 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-ND3, MT-ND4 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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: 45