4578[geneid] - ClinVar

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Items: 37

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6899221.	NC_012920.1(MT-CYB):m.5514A>G GRCh37: ChrMT:5514 GRCh38: ChrMT:5514	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899232.	NC_012920.1(MT-CYB):m.5515A>G GRCh37: ChrMT:5515 GRCh38: ChrMT:5515	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899243.	NC_012920.1(MT-CYB):m.5516A>G GRCh37: ChrMT:5516 GRCh38: ChrMT:5516	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 95564.	m.5521G>A GRCh37: ChrMT:5521 GRCh38: ChrMT:5521	MT-TW	Mitochondrial disease	Likely pathogenic (Oct 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 1558825.	NC_012920.1:m.5523T>G GRCh37: ChrMT:5523 GRCh38: ChrMT:5523	MT-TW	Leigh syndrome	not provided	no assertion provided
Select item 6899256.	NC_012920.1(MT-CYB):m.5524T>C GRCh37: ChrMT:5524 GRCh38: ChrMT:5524	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6899267.	NC_012920.1(MT-CYB):m.5527A>G GRCh37: ChrMT:5527 GRCh38: ChrMT:5527	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899278.	NC_012920.1(MT-CYB):m.5528T>C GRCh37: ChrMT:5528 GRCh38: ChrMT:5528	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6899289.	NC_012920.1(MT-CYB):m.5530C>T GRCh37: ChrMT:5530 GRCh38: ChrMT:5530	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 955710.	m.5532G>A GRCh37: ChrMT:5532 GRCh38: ChrMT:5532	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 68992911.	NC_012920.1(MT-CYB):m.5536_5537insT GRCh37: ChrMT:5536-5537 GRCh38: ChrMT:5536-5537	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 955512.	m.5537_5538insT GRCh37: ChrMT:5537-5538 GRCh38: ChrMT:5537-5538	MT-TW	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 68993013.	NC_012920.1(MT-CYB):m.5538G>A GRCh37: ChrMT:5538 GRCh38: ChrMT:5538	MT-TW	Mitochondrial disease	Uncertain significance (Oct 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 68993214.	NC_012920.1(MT-CYB):m.5539A>T GRCh37: ChrMT:5539 GRCh38: ChrMT:5539	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68993115.	NC_012920.1(MT-CYB):m.5539A>G GRCh37: ChrMT:5539 GRCh38: ChrMT:5539	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68993316.	NC_012920.1(MT-CYB):m.5540G>A GRCh37: ChrMT:5540 GRCh38: ChrMT:5540	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68993417.	NC_012920.1(MT-CYB):m.5542C>T GRCh37: ChrMT:5542 GRCh38: ChrMT:5542	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68993518.	NC_012920.1(MT-CYB):m.5543T>C GRCh37: ChrMT:5543 GRCh38: ChrMT:5543	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68993619.	NC_012920.1(MT-CYB):m.5544T>C GRCh37: ChrMT:5544 GRCh38: ChrMT:5544	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 955820.	m.5545C>T GRCh37: ChrMT:5545 GRCh38: ChrMT:5545	MT-TW	Encephalocardiomyopathy, mitochondrial	Pathogenic (Jun 15, 2008)	no assertion criteria provided
Select item 955421.	m.5549G>A GRCh37: ChrMT:5549 GRCh38: ChrMT:5549	MT-TW	Mitochondrial encephalopathy	Pathogenic (Mar 1, 1995)	no assertion criteria provided
Select item 68993722.	NC_012920.1(MT-CYB):m.5550C>T GRCh37: ChrMT:5550 GRCh38: ChrMT:5550	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68993823.	NC_012920.1(MT-CYB):m.5553T>G GRCh37: ChrMT:5553 GRCh38: ChrMT:5553	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 23549824.	NC_012920.1(MT-CYB):m.5553T>C GRCh37: ChrMT:5553 GRCh38: ChrMT:5553	MT-TW	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign/Likely benign (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 68993925.	NC_012920.1(MT-CYB):m.5554C>A GRCh37: ChrMT:5554 GRCh38: ChrMT:5554	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 3000726.	m.5556G>A GRCh37: ChrMT:5556 GRCh38: ChrMT:5556	MT-TW	Mitochondrial encephalomyopathy	Pathogenic (Mar 1, 2010)	no assertion criteria provided
Select item 68994027.	NC_012920.1(MT-CYB):m.5557T>C GRCh37: ChrMT:5557 GRCh38: ChrMT:5557	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68994128.	NC_012920.1(MT-CYB):m.5558A>G GRCh37: ChrMT:5558 GRCh38: ChrMT:5558	MT-TW	Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 15588429.	NC_012920.1:m.5559A>G GRCh37: ChrMT:5559 GRCh38: ChrMT:5559	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68994230.	NC_012920.1(MT-CYB):m.5560G>A GRCh37: ChrMT:5560 GRCh38: ChrMT:5560	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 44115631.	NC_012920.1:m.5561T>C GRCh37: ChrMT:5561 GRCh38: ChrMT:5561	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68994332.	NC_012920.1(MT-CYB):m.5563G>A GRCh37: ChrMT:5563 GRCh38: ChrMT:5563	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68994433.	NC_012920.1(MT-CYB):m.5566A>G GRCh37: ChrMT:5566 GRCh38: ChrMT:5566	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68994534.	NC_012920.1(MT-CYB):m.5567T>C GRCh37: ChrMT:5567 GRCh38: ChrMT:5567	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68994635.	NC_012920.1(MT-CYB):m.5568A>G GRCh37: ChrMT:5568 GRCh38: ChrMT:5568	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68994736.	NC_012920.1(MT-CYB):m.5573A>G GRCh37: ChrMT:5573 GRCh38: ChrMT:5573	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68994837.	NC_012920.1(MT-CYB):m.5575T>C GRCh37: ChrMT:5575 GRCh38: ChrMT:5575	MT-TW	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter

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Items: 37