4567[geneid] - ClinVar

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Items: 37

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6898551.	NC_012920.1(MT-CYB):m.3236A>G GRCh37: ChrMT:3236 GRCh38: ChrMT:3236	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 96002.	m.3242G>A GRCh37: ChrMT:3242 GRCh38: ChrMT:3242	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6898563.	NC_012920.1(MT-CYB):m.3243A>T GRCh37: ChrMT:3243 GRCh38: ChrMT:3243	MT-TL1	Mitochondrial disease	Likely pathogenic (Oct 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 95894.	NC_012920.1:m.3243A>G GRCh37: ChrMT:3243 GRCh38: ChrMT:3243	MT-TL1	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1, Short stature, Glucose intolerance, Sensorineural hearing impairment, Stroke, not provided, not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, MERRF syndrome, Diabetes-deafness syndrome maternally transmitted, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeCerebral palsy, See cases, ...see more	Pathogenic/Likely pathogenic (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16849185.	NC_012920.1(MT-TL1):m.3244G>A GRCh37: ChrMT:3244 GRCh38: ChrMT:3244	MT-TL1	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 6898576.	NC_012920.1(MT-CYB):m.3248G>A GRCh37: ChrMT:3248 GRCh38: ChrMT:3248	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 95997.	m.3249G>A GRCh37: ChrMT:3249 GRCh38: ChrMT:3249	MT-TL1	Kearns-Sayre syndrome	Pathogenic (Jun 11, 2010)	no assertion criteria provided
Select item 95938.	m.3250T>C GRCh37: ChrMT:3250 GRCh38: ChrMT:3250	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 95959.	m.3251A>G GRCh37: ChrMT:3251 GRCh38: ChrMT:3251	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68985810.	NC_012920.1(MT-CYB):m.3252A>T GRCh37: ChrMT:3252 GRCh38: ChrMT:3252	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 959411.	m.3252A>G GRCh37: ChrMT:3252 GRCh38: ChrMT:3252	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 68986012.	NC_012920.1(MT-CYB):m.3254C>A GRCh37: ChrMT:3254 GRCh38: ChrMT:3254	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68985913.	NC_012920.1(MT-CYB):m.3254C>T GRCh37: ChrMT:3254 GRCh38: ChrMT:3254	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68986114.	NC_012920.1(MT-CYB):m.3255G>A GRCh37: ChrMT:3255 GRCh38: ChrMT:3255	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 959115.	m.3256C>T GRCh37: ChrMT:3256 GRCh38: ChrMT:3256	MT-TL1	Mitochondrial disease	Likely pathogenic (Aug 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98645416.	NC_012920.1(MT-TL1):m.3258T>C GRCh37: ChrMT:3258 GRCh38: ChrMT:3258	MT-TL1	Mitochondrial disease	Likely pathogenic (Aug 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 959617.	m.3260A>G GRCh37: ChrMT:3260 GRCh38: ChrMT:3260	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 68986218.	NC_012920.1(MT-CYB):m.3261A>G GRCh37: ChrMT:3261 GRCh38: ChrMT:3261	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68986319.	NC_012920.1(MT-CYB):m.3263C>T GRCh37: ChrMT:3263 GRCh38: ChrMT:3263	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 168491920.	NC_012920.1(MT-TL1):m.3264T>C GRCh37: ChrMT:3264 GRCh38: ChrMT:3264	MT-TL1	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 68986421.	NC_012920.1(MT-CYB):m.3269A>G GRCh37: ChrMT:3269 GRCh38: ChrMT:3269	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 959022.	m.3271T>C GRCh37: ChrMT:3271 GRCh38: ChrMT:3271	MT-TL1	Mitochondrial disease	Pathogenic (Apr 25, 2023)	reviewed by expert panel FDA Recognized Database
Select item 68986523.	NC_012920.1(MT-CYB):m.3272T>C GRCh37: ChrMT:3272 GRCh38: ChrMT:3272	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 959824.	m.3274A>G GRCh37: ChrMT:3274 GRCh38: ChrMT:3274	MT-TL1	MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 68986725.	NC_012920.1(MT-CYB):m.3275C>A GRCh37: ChrMT:3275 GRCh38: ChrMT:3275	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68986626.	NC_012920.1(MT-CYB):m.3275C>G GRCh37: ChrMT:3275 GRCh38: ChrMT:3275	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 37004527.	NC_012920.1:m.3275C>T GRCh37: ChrMT:3275 GRCh38: ChrMT:3275	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 23501628.	NC_012920.1:m.3276A>G GRCh37: ChrMT:3276 GRCh38: ChrMT:3276	MT-TL1	not specified	Uncertain significance (Dec 19, 2012)	no assertion criteria provided
Select item 68986829.	NC_012920.1(MT-CYB):m.3277G>A GRCh37: ChrMT:3277 GRCh38: ChrMT:3277	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68986930.	NC_012920.1(MT-CYB):m.3278T>C GRCh37: ChrMT:3278 GRCh38: ChrMT:3278	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 98645831.	NC_012920.1(MT-TL1):m.3280A>G GRCh37: ChrMT:3280 GRCh38: ChrMT:3280	MT-TL1	Mitochondrial disease	Uncertain significance (Aug 23, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68987032.	NC_012920.1(MT-CYB):m.3288A>G GRCh37: ChrMT:3288 GRCh38: ChrMT:3288	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 93060233.	NC_012920.1(MT-TL1):m.3290T>A GRCh37: ChrMT:3290 GRCh38: ChrMT:3290	MT-TL1	See cases	Uncertain significance (Oct 19, 2018)	criteria provided, single submitter
Select item 959734.	m.3290T>C GRCh37: ChrMT:3290 GRCh38: ChrMT:3290	MT-TL1	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 22324735.	NC_012920.1:m.3291T>C GRCh37: ChrMT:3291 GRCh38: ChrMT:3291	MT-TL1	Mitochondrial disease	Likely pathogenic (Oct 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68987136.	NC_012920.1(MT-CYB):m.3302A>G GRCh37: ChrMT:3302 GRCh38: ChrMT:3302	MT-TL1	Mitochondrial disease	Likely pathogenic (Nov 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 959237.	m.3303C>T GRCh37: ChrMT:3303 GRCh38: ChrMT:3303	MT-TL1	Mitochondrial disease	Likely pathogenic (Jan 9, 2023)	reviewed by expert panel FDA Recognized Database

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Items: 37