4558[geneid] - ClinVar

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Items: 38

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6898051.	NC_012920.1(MT-CYB):m.578T>C GRCh37: ChrMT:578 GRCh38: ChrMT:578	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 6898062.	NC_012920.1(MT-CYB):m.579T>C GRCh37: ChrMT:579 GRCh38: ChrMT:579	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 95733.	m.583G>A GRCh37: ChrMT:583 GRCh38: ChrMT:583	MT-TF	Mitochondrial disease	Uncertain significance (Oct 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 300054.	m.586G>A GRCh37: ChrMT:586 GRCh38: ChrMT:586	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 6898075.	NC_012920.1(MT-CYB):m.588T>C GRCh37: ChrMT:588 GRCh38: ChrMT:588	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 8705736.	NC_012920.1(MT-CYB):m.590A>G GRCh37: ChrMT:590 GRCh38: ChrMT:590	MT-TF	Mitochondrial disease	Pathogenic (Oct 1, 2019)	no assertion criteria provided
Select item 11776377.	NC_012920.1(MT-CYB):m.591C>T GRCh37: ChrMT:591 GRCh38: ChrMT:591	MT-TF	Hypokalemia, Hypomagnesemia, Nephropathy, chronic tubulointerstitial	Pathogenic/Likely pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6898088.	NC_012920.1(MT-CYB):m.592C>T GRCh37: ChrMT:592 GRCh38: ChrMT:592	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898109.	NC_012920.1(MT-CYB):m.595dup GRCh37: ChrMT:593-594 GRCh38: ChrMT:593-594	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68980910.	NC_012920.1(MT-CYB):m.593T>C GRCh37: ChrMT:593 GRCh38: ChrMT:593	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981211.	NC_012920.1(MT-CYB):m.595C>T GRCh37: ChrMT:595 GRCh38: ChrMT:595	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981112.	NC_012920.1(MT-CYB):m.595C>A GRCh37: ChrMT:595 GRCh38: ChrMT:595	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981313.	NC_012920.1(MT-CYB):m.596T>C GRCh37: ChrMT:596 GRCh38: ChrMT:596	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981514.	NC_012920.1(MT-CYB):m.597_598insT GRCh37: ChrMT:597-598 GRCh38: ChrMT:597-598	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981415.	NC_012920.1(MT-CYB):m.597C>T GRCh37: ChrMT:597 GRCh38: ChrMT:597	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981616.	NC_012920.1(MT-CYB):m.603A>G GRCh37: ChrMT:603 GRCh38: ChrMT:603	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68981717.	NC_012920.1(MT-CYB):m.606A>G GRCh37: ChrMT:606 GRCh38: ChrMT:606	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 3000618.	m.608A>G GRCh37: ChrMT:608 GRCh38: ChrMT:608	MT-TF	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 957419.	m.611G>A GRCh37: ChrMT:611 GRCh38: ChrMT:611	MT-TF	MERRF syndrome	Pathogenic (Sep 25, 2007)	no assertion criteria provided
Select item 957720.	m.616T>G GRCh37: ChrMT:616 GRCh38: ChrMT:616	MT-TF	Epilepsy, mitochondrial	Pathogenic (Feb 9, 2010)	no assertion criteria provided
Select item 957621.	m.616T>C GRCh37: ChrMT:616 GRCh38: ChrMT:616	MT-TF	Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68981822.	NC_012920.1(MT-CYB):m.618T>C GRCh37: ChrMT:618 GRCh38: ChrMT:618	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68981923.	NC_012920.1(MT-CYB):m.619T>C GRCh37: ChrMT:619 GRCh38: ChrMT:619	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982024.	NC_012920.1(MT-CYB):m.621A>G GRCh37: ChrMT:621 GRCh38: ChrMT:621	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 957525.	m.622G>A GRCh37: ChrMT:622 GRCh38: ChrMT:622	MT-TF	Mitochondrial disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 68982126.	NC_012920.1(MT-CYB):m.624C>T GRCh37: ChrMT:624 GRCh38: ChrMT:624	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68982227.	NC_012920.1(MT-CYB):m.628C>T GRCh37: ChrMT:628 GRCh38: ChrMT:628	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68982428.	NC_012920.1(MT-CYB):m.629T>A GRCh37: ChrMT:629 GRCh38: ChrMT:629	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982329.	NC_012920.1(MT-CYB):m.629T>C GRCh37: ChrMT:629 GRCh38: ChrMT:629	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982530.	NC_012920.1(MT-CYB):m.630C>T GRCh37: ChrMT:630 GRCh38: ChrMT:630	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982631.	NC_012920.1(MT-CYB):m.633A>G GRCh37: ChrMT:633 GRCh38: ChrMT:633	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982832.	NC_012920.1(MT-CYB):m.634T>C GRCh37: ChrMT:634 GRCh38: ChrMT:634	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982733.	NC_012920.1(MT-CYB):m.634T>A GRCh37: ChrMT:634 GRCh38: ChrMT:634	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68982934.	NC_012920.1(MT-CYB):m.635C>T GRCh37: ChrMT:635 GRCh38: ChrMT:635	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 168491235.	NC_012920.1(MT-TF):m.636A>G GRCh37: ChrMT:636 GRCh38: ChrMT:636	MT-TF	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 68983036.	NC_012920.1(MT-CYB):m.643A>G GRCh37: ChrMT:643 GRCh38: ChrMT:643	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Hypokalemia, Hypomagnesemia, Chronic kidney disease	Uncertain significance (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 68983137.	NC_012920.1(MT-CYB):m.644A>G GRCh37: ChrMT:644 GRCh38: ChrMT:644	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68983238.	NC_012920.1(MT-CYB):m.647A>G GRCh37: ChrMT:647 GRCh38: ChrMT:647	MT-TF	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 38