4566[geneid] - ClinVar

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Items: 43

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 4306776.	NC_012920.1:m.7730_11255del3526 GRCh37: ChrMT:7730-11255 GRCh38: ChrMT:7730-11255	MT-CO3, MT-ND3, MT-ATP6, MT-ATP8, MT-CO2, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306787.	NC_012920.1:m.8290_13040del4751 GRCh37: ChrMT:8290-13040 GRCh38: ChrMT:8290-13040	MT-TR, MT-TS2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 95848.	m.8296A>G GRCh37: ChrMT:8296 GRCh38: ChrMT:8296	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6900629.	NC_012920.1(MT-CYB):m.8298T>C GRCh37: ChrMT:8298 GRCh38: ChrMT:8298	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69006310.	NC_012920.1(MT-CYB):m.8299G>A GRCh37: ChrMT:8299 GRCh38: ChrMT:8299	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69006411.	NC_012920.1(MT-CYB):m.8300T>C GRCh37: ChrMT:8300 GRCh38: ChrMT:8300	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69006512.	NC_012920.1(MT-CYB):m.8301A>G GRCh37: ChrMT:8301 GRCh38: ChrMT:8301	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 180727513.	NC_012920.1(MT-TK):m.8302A>G GRCh37: ChrMT:8302 GRCh38: ChrMT:8302	MT-TK	not provided	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 98642214.	NC_012920.1(MT-TK):m.8306T>C GRCh37: ChrMT:8306 GRCh38: ChrMT:8306	MT-TK	Mitochondrial disease	Uncertain significance (Oct 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69006615.	NC_012920.1(MT-CYB):m.8308A>G GRCh37: ChrMT:8308 GRCh38: ChrMT:8308	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69006816.	NC_012920.1(MT-CYB):m.8311T>A GRCh37: ChrMT:8311 GRCh38: ChrMT:8311	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69006717.	NC_012920.1(MT-CYB):m.8311T>C GRCh37: ChrMT:8311 GRCh38: ChrMT:8311	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 958318.	m.8313G>A GRCh37: ChrMT:8313 GRCh38: ChrMT:8313	MT-TK	Mitochondrial disease	Likely pathogenic (Mar 13, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69006919.	NC_012920.1(MT-CYB):m.8315A>G GRCh37: ChrMT:8315 GRCh38: ChrMT:8315	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007020.	NC_012920.1(MT-CYB):m.8319A>G GRCh37: ChrMT:8319 GRCh38: ChrMT:8319	MT-TK	Kearns-Sayre syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Feb 25, 2022)	criteria provided, conflicting interpretations
Select item 168491521.	NC_012920.1(MT-TK):m.8326A>G GRCh37: ChrMT:8326 GRCh38: ChrMT:8326	MT-TK	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 168491622.	NC_012920.1(MT-TK):m.8328G>A GRCh37: ChrMT:8328 GRCh38: ChrMT:8328	MT-TK	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 69007123.	NC_012920.1(MT-CYB):m.8331A>G GRCh37: ChrMT:8331 GRCh38: ChrMT:8331	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007224.	NC_012920.1(MT-CYB):m.8337T>C GRCh37: ChrMT:8337 GRCh38: ChrMT:8337	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007325.	NC_012920.1(MT-CYB):m.8338A>G GRCh37: ChrMT:8338 GRCh38: ChrMT:8338	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007426.	NC_012920.1(MT-CYB):m.8340_8341insT GRCh37: ChrMT:8340-8341 GRCh38: ChrMT:8340-8341	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 958227.	m.8342G>A GRCh37: ChrMT:8342 GRCh38: ChrMT:8342	MT-TK	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 69007528.	NC_012920.1(MT-CYB):m.8343A>G GRCh37: ChrMT:8343 GRCh38: ChrMT:8343	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 957929.	m.8344A>G GRCh37: ChrMT:8344 GRCh38: ChrMT:8344	MT-TK	Mitochondrial disease	Pathogenic (Nov 3, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69007630.	NC_012920.1(MT-CYB):m.8345C>T GRCh37: ChrMT:8345 GRCh38: ChrMT:8345	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007731.	NC_012920.1(MT-CYB):m.8346C>A GRCh37: ChrMT:8346 GRCh38: ChrMT:8346	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007832.	NC_012920.1(MT-CYB):m.8347A>G GRCh37: ChrMT:8347 GRCh38: ChrMT:8347	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69007933.	NC_012920.1(MT-CYB):m.8348A>G GRCh37: ChrMT:8348 GRCh38: ChrMT:8348	MT-TK	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign/Likely benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69008034.	NC_012920.1(MT-CYB):m.8349C>T GRCh37: ChrMT:8349 GRCh38: ChrMT:8349	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69008135.	NC_012920.1(MT-CYB):m.8350A>G GRCh37: ChrMT:8350 GRCh38: ChrMT:8350	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 63814736.	NC_012920.1:m.8350_13450del GRCh37: ChrMT:8350-13450 GRCh38: ChrMT:8350-13450	MT-TR, MT-TS2, MT-TK, MT-TL2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH	Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 958037.	m.8356T>C GRCh37: ChrMT:8356 GRCh38: ChrMT:8356	MT-TK	Mitochondrial disease	Likely pathogenic (Mar 13, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69008238.	NC_012920.1(MT-CYB):m.8358A>G GRCh37: ChrMT:8358 GRCh38: ChrMT:8358	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69008339.	NC_012920.1(MT-CYB):m.8360A>G GRCh37: ChrMT:8360 GRCh38: ChrMT:8360	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 958540.	m.8361G>A GRCh37: ChrMT:8361 GRCh38: ChrMT:8361	MT-TK	MERRF syndrome	Pathogenic (Dec 1, 2003)	no assertion criteria provided
Select item 69008441.	NC_012920.1(MT-CYB):m.8362T>G GRCh37: ChrMT:8362 GRCh38: ChrMT:8362	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 958142.	m.8363G>A GRCh37: ChrMT:8363 GRCh38: ChrMT:8363	MT-TK	Mitochondrial disease	Likely pathogenic (Mar 13, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69008543.	NC_012920.1(MT-CYB):m.8364A>T GRCh37: ChrMT:8364 GRCh38: ChrMT:8364	MT-TK	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter

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Items: 43