4574[geneid] - ClinVar

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Items: 40

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 96321.	NC_012920.1:m.1494C>T GRCh37: ChrMT:1494 GRCh38: ChrMT:1494	MT-RNR1, MT-TS1	Mitochondrial disease, kanamycin response - Toxicity, streptomycin response - Toxicity, tobramycin response - Toxicity, aminoglycoside antibacterials response - Toxicity, gentamicin response - Toxicity	Likely pathogenic; drug response (Jul 11, 2022)	reviewed by expert panel FDA Recognized Database
Select item 2092122.	NC_012920.1:m.5782_13922del8141 GRCh37: ChrMT:5782-13922 GRCh38: ChrMT:5782-13922	MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TR, MT-TS1, MT-TK, MT-TL2, MT-TS2, MT-TH, MT-TY, MT-ND4, MT-TG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3	Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 2092133.	NC_012920.1:m.5794_14876del9083 GRCh37: ChrMT:5794-14876 GRCh38: ChrMT:5794-14876	MT-CYB, MT-ND3, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY, MT-ATP6, MT-ATP8, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-ND6, MT-TC, MT-TD, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TK	Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 4306744.	NC_012920.1:m.6003_11220del5218 GRCh37: ChrMT:6003-11220 GRCh38: ChrMT:6003-11220	MT-TR, MT-TS1, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306755.	NC_012920.1:m.6469_15587del9119 GRCh37: ChrMT:6468-15586 GRCh38: ChrMT:6468-15586	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306766.	NC_012920.1:m.7129_13991del6863 GRCh37: ChrMT:7126-13988 GRCh38: ChrMT:7126-13988	MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-TD, MT-TG, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-ND4, MT-ND4L, MT-ND5, MT-TH, MT-TK, MT-ATP6, MT-ATP8	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 401587.	NC_012920.1:m.7443A>G GRCh37: ChrMT:7443 GRCh38: ChrMT:7443	MT-CO1, MT-TS1	Mitochondrial non-syndromic sensorineural hearing loss	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 96638.	NC_012920.1:m.7444G>A GRCh37: ChrMT:7444 GRCh38: ChrMT:7444	MT-CO1, MT-TS1	Mitochondrial disease	Likely benign (Jun 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 6314699.	NC_012920.1:m.7445A>T GRCh37: ChrMT:7445 GRCh38: ChrMT:7445	MT-CO1, MT-TS1	Mitochondrial non-syndromic sensorineural hearing loss	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 956810.	m.7445A>C GRCh37: ChrMT:7445 GRCh38: ChrMT:7445	MT-CO1, MT-TS1	Mitochondrial non-syndromic sensorineural hearing loss	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 956311.	NC_012920.1:m.7445A>G GRCh37: ChrMT:7445 GRCh38: ChrMT:7445	MT-CO1, MT-TS1	Mitochondrial disease	Pathogenic (Aug 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 86939512.	NC_012920.1(MT-TS1):m.7453G>A GRCh37: ChrMT:7453 GRCh38: ChrMT:7453	MT-TS1	Cytochrome-c oxidase deficiency disease, neonatal lactic acidosis	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69002613.	NC_012920.1(MT-CYB):m.7460A>G GRCh37: ChrMT:7460 GRCh38: ChrMT:7460	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 63147014.	NC_012920.1:m.7462C>T GRCh37: ChrMT:7462 GRCh38: ChrMT:7462	MT-TS1	Cytochrome-c oxidase deficiency disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 4222615.	NC_012920.1:m.7471dup GRCh37: ChrMT:7465-7466 GRCh38: ChrMT:7465-7466	MT-TS1	Mitochondrial disease	Pathogenic (Nov 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 4222716.	m.7471delC GRCh37: ChrMT:7466 GRCh38: ChrMT:7466	MT-TS1	not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 4222417.	m.7468C>T GRCh37: ChrMT:7468 GRCh38: ChrMT:7468	MT-TS1	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69002718.	NC_012920.1(MT-CYB):m.7469C>T GRCh37: ChrMT:7469 GRCh38: ChrMT:7469	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69002819.	NC_012920.1(MT-CYB):m.7471C>A GRCh37: ChrMT:7471 GRCh38: ChrMT:7471	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 4222520.	m.7471C>T GRCh37: ChrMT:7471 GRCh38: ChrMT:7471	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, not specified	Benign/Likely benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 168492321.	NC_012920.1(MT-TS1):m.7472A>C GRCh37: ChrMT:7472 GRCh38: ChrMT:7472	MT-TS1	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 50529722.	NC_012920.1:m.7472A>T GRCh37: ChrMT:7472 GRCh38: ChrMT:7472	MT-TS1	not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign/Likely benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 4222823.	m.7476C>T GRCh37: ChrMT:7476 GRCh38: ChrMT:7476	MT-TS1	Mitochondrial disease	Benign (Jan 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69002924.	NC_012920.1(MT-CYB):m.7478G>A GRCh37: ChrMT:7478 GRCh38: ChrMT:7478	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69003025.	NC_012920.1(MT-CYB):m.7479G>A GRCh37: ChrMT:7479 GRCh38: ChrMT:7479	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 37421526.	NC_012920.1:m.7486G>A GRCh37: ChrMT:7486 GRCh38: ChrMT:7486	MT-TS1	Progressive external ophthalmoplegia	Uncertain significance (Dec 22, 2016)	no assertion criteria provided
Select item 69003127.	NC_012920.1(MT-CYB):m.7487C>T GRCh37: ChrMT:7487 GRCh38: ChrMT:7487	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69003228.	NC_012920.1(MT-CYB):m.7490A>G GRCh37: ChrMT:7490 GRCh38: ChrMT:7490	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 4222929.	m.7493C>T GRCh37: ChrMT:7493 GRCh38: ChrMT:7493	MT-TS1	not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37004930.	NC_012920.1:m.7496T>C GRCh37: ChrMT:7496 GRCh38: ChrMT:7496	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 956931.	m.7497G>A GRCh37: ChrMT:7497 GRCh38: ChrMT:7497	MT-TS1	Mitochondrial disease	Likely pathogenic (Apr 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 4223032.	m.7498G>A GRCh37: ChrMT:7498 GRCh38: ChrMT:7498	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, not specified	Benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69003333.	NC_012920.1(MT-CYB):m.7499C>A GRCh37: ChrMT:7499 GRCh38: ChrMT:7499	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 168492434.	NC_012920.1(MT-TS1):m.7501T>A GRCh37: ChrMT:7501 GRCh38: ChrMT:7501	MT-TS1	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 69003435.	NC_012920.1(MT-CYB):m.7501T>C GRCh37: ChrMT:7501 GRCh38: ChrMT:7501	MT-TS1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 22885936.	NC_012920.1:m.7502C>T GRCh37: ChrMT:7502 GRCh38: ChrMT:7502	MT-TS1	Mitochondrial disease	Uncertain significance (Jul 24, 2023)	reviewed by expert panel FDA Recognized Database
Select item 4088537.	NC_012920.1:m.7505T>C GRCh37: ChrMT:7505 GRCh38: ChrMT:7505	MT-TS1	Cytochrome-c oxidase deficiency disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 956538.	m.7510T>C GRCh37: ChrMT:7510 GRCh38: ChrMT:7510	MT-TS1	Mitochondrial disease	Likely pathogenic (Mar 13, 2023)	reviewed by expert panel FDA Recognized Database
Select item 956639.	m.7511T>C GRCh37: ChrMT:7511 GRCh38: ChrMT:7511	MT-TS1	Mitochondrial disease	Likely pathogenic (Nov 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 956240.	m.7512T>C GRCh37: ChrMT:7512 GRCh38: ChrMT:7512	MT-TS1	MERRF/MELAS overlap syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Cytochrome-c oxidase deficiency disease	Pathogenic/Likely pathogenic (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts

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