4555[geneid] - ClinVar

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

Result Filters

Search results

Items: 34

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2092121.	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 2092132.	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 4306743.	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 4306754.	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 4306765.	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 6900356.	NC_012920.1(MT-CYB):m.7518A>G GRCh37: ChrMT:7518 GRCh38: ChrMT:7518	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6900367.	NC_012920.1(MT-CYB):m.7520G>A GRCh37: ChrMT:7520 GRCh38: ChrMT:7520	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6900378.	NC_012920.1(MT-CYB):m.7521G>A GRCh37: ChrMT:7521 GRCh38: ChrMT:7521	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6900389.	NC_012920.1(MT-CYB):m.7525T>C GRCh37: ChrMT:7525 GRCh38: ChrMT:7525	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 961910.	m.7526A>G GRCh37: ChrMT:7526 GRCh38: ChrMT:7526	MT-TD	Mitochondrial myopathy, isolated	Pathogenic (Aug 30, 2005)	no assertion criteria provided
Select item 69003911.	NC_012920.1(MT-CYB):m.7533C>T GRCh37: ChrMT:7533 GRCh38: ChrMT:7533	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004012.	NC_012920.1(MT-CYB):m.7534C>T GRCh37: ChrMT:7534 GRCh38: ChrMT:7534	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004113.	NC_012920.1(MT-CYB):m.7538T>C GRCh37: ChrMT:7538 GRCh38: ChrMT:7538	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69004214.	NC_012920.1(MT-CYB):m.7543A>G GRCh37: ChrMT:7543 GRCh38: ChrMT:7543	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004315.	NC_012920.1(MT-CYB):m.7546T>C GRCh37: ChrMT:7546 GRCh38: ChrMT:7546	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004416.	NC_012920.1(MT-CYB):m.7547T>C GRCh37: ChrMT:7547 GRCh38: ChrMT:7547	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004517.	NC_012920.1(MT-CYB):m.7552A>G GRCh37: ChrMT:7552 GRCh38: ChrMT:7552	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 168491018.	NC_012920.1(MT-TD):m.7554G>A GRCh37: ChrMT:7554 GRCh38: ChrMT:7554	MT-TD	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 69004619.	NC_012920.1(MT-CYB):m.7555T>C GRCh37: ChrMT:7555 GRCh38: ChrMT:7555	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69004720.	NC_012920.1(MT-CYB):m.7559A>G GRCh37: ChrMT:7559 GRCh38: ChrMT:7559	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004821.	NC_012920.1(MT-CYB):m.7561T>C GRCh37: ChrMT:7561 GRCh38: ChrMT:7561	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69004922.	NC_012920.1(MT-CYB):m.7562A>G GRCh37: ChrMT:7562 GRCh38: ChrMT:7562	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69005023.	NC_012920.1(MT-TD):m.7566G>A GRCh37: ChrMT:7566 GRCh38: ChrMT:7566	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69005324.	NC_012920.1(MT-CYB):m.7568dup GRCh37: ChrMT:7567-7568 GRCh38: ChrMT:7567-7568	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69005125.	NC_012920.1(MT-CYB):m.7567C>T GRCh37: ChrMT:7567 GRCh38: ChrMT:7567	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69005226.	NC_012920.1(MT-CYB):m.7568T>C GRCh37: ChrMT:7568 GRCh38: ChrMT:7568	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69005427.	NC_012920.1(MT-CYB):m.7569A>G GRCh37: ChrMT:7569 GRCh38: ChrMT:7569	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69005528.	NC_012920.1(MT-CYB):m.7570A>G GRCh37: ChrMT:7570 GRCh38: ChrMT:7570	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69005629.	NC_012920.1(MT-CYB):m.7572T>C GRCh37: ChrMT:7572 GRCh38: ChrMT:7572	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69005730.	NC_012920.1(MT-CYB):m.7576A>G GRCh37: ChrMT:7576 GRCh38: ChrMT:7576	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69005831.	NC_012920.1(MT-CYB):m.7577T>C GRCh37: ChrMT:7577 GRCh38: ChrMT:7577	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69005932.	NC_012920.1(MT-CYB):m.7581T>C GRCh37: ChrMT:7581 GRCh38: ChrMT:7581	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69006033.	NC_012920.1(MT-CYB):m.7582C>T GRCh37: ChrMT:7582 GRCh38: ChrMT:7582	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69006134.	NC_012920.1(MT-CYB):m.7585A>G GRCh37: ChrMT:7585 GRCh38: ChrMT:7585	MT-TD	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34