4579[geneid] - ClinVar

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

Result Filters

Search results

Items: 23

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 6900093.	NC_012920.1(MT-CYB):m.5836A>G GRCh37: ChrMT:5836 GRCh38: ChrMT:5836	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6900104.	NC_012920.1(MT-CYB):m.5837G>A GRCh37: ChrMT:5837 GRCh38: ChrMT:5837	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6900115.	NC_012920.1(MT-CYB):m.5839C>T GRCh37: ChrMT:5839 GRCh38: ChrMT:5839	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6900136.	NC_012920.1(MT-CYB):m.5840C>T GRCh37: ChrMT:5840 GRCh38: ChrMT:5840	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6900127.	NC_012920.1(MT-CYB):m.5840C>A GRCh37: ChrMT:5840 GRCh38: ChrMT:5840	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6900148.	NC_012920.1(MT-CYB):m.5841T>C GRCh37: ChrMT:5841 GRCh38: ChrMT:5841	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 95539.	m.5843A>G GRCh37: ChrMT:5843 GRCh38: ChrMT:5843	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69001510.	NC_012920.1(MT-CYB):m.5846C>T GRCh37: ChrMT:5846 GRCh38: ChrMT:5846	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69001611.	NC_012920.1(MT-CYB):m.5852T>C GRCh37: ChrMT:5852 GRCh38: ChrMT:5852	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69001712.	NC_012920.1(MT-CYB):m.5855A>G GRCh37: ChrMT:5855 GRCh38: ChrMT:5855	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69001813.	NC_012920.1(MT-CYB):m.5858T>C GRCh37: ChrMT:5858 GRCh38: ChrMT:5858	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69001914.	NC_012920.1(MT-CYB):m.5864G>A GRCh37: ChrMT:5864 GRCh38: ChrMT:5864	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69002015.	NC_012920.1(MT-CYB):m.5865T>C GRCh37: ChrMT:5865 GRCh38: ChrMT:5865	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69002116.	NC_012920.1(MT-CYB):m.5867C>T GRCh37: ChrMT:5867 GRCh38: ChrMT:5867	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 955017.	m.5874T>C GRCh37: ChrMT:5874 GRCh38: ChrMT:5874	MT-TY	Exercise intolerance and complex III deficiency, somatic	Pathogenic (Oct 24, 2000)	no assertion criteria provided
Select item 69002218.	NC_012920.1(MT-CYB):m.5875C>T GRCh37: ChrMT:5875 GRCh38: ChrMT:5875	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69002319.	NC_012920.1(MT-CYB):m.5876A>G GRCh37: ChrMT:5876 GRCh38: ChrMT:5876	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 955220.	m.5877C>T GRCh37: ChrMT:5877 GRCh38: ChrMT:5877	MT-TY	Kearns-Sayre syndrome	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 69002421.	NC_012920.1(MT-CYB):m.5885T>C GRCh37: ChrMT:5885 GRCh38: ChrMT:5885	MT-TY	See cases, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Mar 25, 2020)	criteria provided, multiple submitters, no conflicts
Select item 955122.	m.5888delT GRCh37: ChrMT:5885 GRCh38: ChrMT:5885	MT-TY	Kearns-Sayre syndrome	Pathogenic (Dec 26, 2001)	no assertion criteria provided
Select item 69002523.	NC_012920.1(MT-CYB):m.5889A>G GRCh37: ChrMT:5889 GRCh38: ChrMT:5889	MT-TY	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (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: 23