ClinVar for MedGen (Select 56485) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687510	NC_012920.1(MT-CYB):m.15215G>A	MT-CYB	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 2583106	NC_012920.1(MT-CYB):m.14864T>C	MT-CYB	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 2583105	NC_012920.1(MT-TK):m.8316T>C	MT-TK	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 2583104	NC_012920.1(MT-TL2):m.12299A>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 2501808	NC_012920.1(MT-CYB):m.15485C>T	MT-CYB	Single nucleotide variant	Kearns-Sayre syndrome +6 more	Gnot provided
Select item 2443068	NC_012920.1(MT-ND5):m.12923G>A	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GLikely pathogenic
Select item 1709618	NC_012920.1(MT-ND5):m.13289G>A	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1709050	NC_012920.1(MT-ND5):m.14021T>C	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1708995	NC_012920.1(MT-ND5):m.13912C>T	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1708973	NC_012920.1(MT-CO3):m.9247G>C	MT-CO3	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684926	NC_012920.1(MT-TV):m.1642G>A	MT-TV	Single nucleotide variant	not specified	GUncertain significance
Select item 1684913	NC_012920.1(MT-TH):m.12146A>G	MT-TH	Single nucleotide variant	not specified	GUncertain significance
Select item 1684904	NC_012920.1(MT-CO1):m.7023G>A	MT-CO1	Single nucleotide variant	not specified	GUncertain significance
Select item 1325837	NC_012920.1(MT-ND1):m.1616A>G	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1312800	NM_002693.3(POLG):c.895A>G (p.Met299Val)	POLG (M299V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 693726	NC_012920.1(MT-ND6):m.14465G>A	MT-ND6	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 693604	NC_012920.1(MT-ND5):m.13763C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693516	NC_012920.1:m.13094T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693512	NC_012920.1(MT-ND5):m.13046T>C	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 693440	NC_012920.1(MT-ND5):m.12425del	MT-ND5	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693252	NC_012920.1(MT-CO3):m.9957T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692427	NC_012920.1(MT-ND1):m.4142G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 692361	NC_012920.1(MT-ND1):m.3502T>C	MT-ND1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +1 more	GLikely pathogenic
Select item 692346	NC_012920.1(MT-ND1):m.3380G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 690277	NC_012920.1(MT-CYB):m.16021C>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690276	NC_012920.1(MT-CYB):m.16018_16032dup	MT-TP	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690275	NC_012920.1(MT-CYB):m.16017T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690274	NC_012920.1(MT-CYB):m.16013A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690273	NC_012920.1(MT-CYB):m.16011A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690272	NC_012920.1(MT-CYB):m.16003T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690271	NC_012920.1(MT-CYB):m.16002T>C	MT-TP	Single nucleotide variant	MERRF syndrome +1 more	GPathogenic/Likely pathogenic
Select item 690270	NC_012920.1(MT-CYB):m.15995G>A	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690269	NC_012920.1(MT-CYB):m.15994A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690268	NC_012920.1(MT-CYB):m.15992A>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690267	NC_012920.1(MT-CYB):m.15984T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690266	NC_012920.1(MT-CYB):m.15983T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690265	NC_012920.1(MT-CYB):m.15978C>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690264	NC_012920.1(MT-CYB):m.15977C>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690263	NC_012920.1(MT-CYB):m.15976T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690262	NC_012920.1(MT-CYB):m.15970T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690261	NC_012920.1(MT-CYB):m.15968T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690260	NC_012920.1(MT-CYB):m.15952C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690259	NC_012920.1(MT-CYB):m.15951A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690258	NC_012920.1(MT-CYB):m.15949G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690257	NC_012920.1(MT-CYB):m.15947A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690256	NC_012920.1(MT-CYB):m.15946C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690255	NC_012920.1(MT-CYB):m.15944T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690254	NC_012920.1(MT-CYB):m.15944dup	MT-TT	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690253	NC_012920.1(MT-CYB):m.15942T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690252	NC_012920.1(MT-CYB):m.15941T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690251	NC_012920.1(MT-CYB):m.15944del	MT-TT	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690250	NC_012920.1(MT-CYB):m.15940T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690249	NC_012920.1(MT-CYB):m.15939C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690248	NC_012920.1(MT-CYB):m.15938C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690247	NC_012920.1(MT-CYB):m.15937A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690246	NC_012920.1(MT-CYB):m.15937A>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690245	NC_012920.1(MT-CYB):m.15937del	MT-TT	Deletion	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690244	NC_012920.1(MT-CYB):m.15936A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690243	NC_012920.1(MT-CYB):m.15936A>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690242	NC_012920.1(MT-CYB):m.15935A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690241	NC_012920.1(MT-CYB):m.15932T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690240	NC_012920.1(MT-CYB):m.15930G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690239	NC_012920.1(MT-CYB):m.15929A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690238	NC_012920.1(MT-CYB):m.15926C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690237	NC_012920.1(MT-CYB):m.15925C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690236	NC_012920.1(MT-CYB):m.15924A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690235	NC_012920.1(MT-CYB):m.15921T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690234	NC_012920.1(MT-CYB):m.15916T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690233	NC_012920.1(MT-CYB):m.15915G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 690232	NC_012920.1(MT-CYB):m.15914A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690231	NC_012920.1(MT-CYB):m.15913C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690230	NC_012920.1(MT-CYB):m.15911A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690229	NC_012920.1(MT-CYB):m.15909A>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690228	NC_012920.1(MT-CYB):m.15909A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690227	NC_012920.1(MT-CYB):m.15908T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690226	NC_012920.1(MT-CYB):m.15907A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690225	NC_012920.1(MT-CYB):m.15905T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690224	NC_012920.1(MT-CYB):m.15904C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690223	NC_012920.1(MT-CYB):m.15903A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690222	NC_012920.1(MT-CYB):m.15902A>G	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690221	NC_012920.1(MT-CYB):m.15900T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690220	NC_012920.1(MT-CYB):m.15897G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690219	NC_012920.1(MT-CYB):m.15895T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690218	NC_012920.1(MT-CYB):m.15894G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690217	NC_012920.1(MT-CYB):m.15893T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690216	NC_012920.1(MT-CYB):m.15892T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690215	NC_012920.1(MT-CYB):m.15891C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690214	NC_012920.1(MT-CYB):m.15890C>T	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690213	NC_012920.1(MT-CYB):m.15889T>C	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690212	NC_012920.1(MT-CYB):m.15888G>A	MT-TT	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690211	NC_012920.1(MT-CYB):m.14739G>A	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 690210	NC_012920.1(MT-CYB):m.14729T>C	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690209	NC_012920.1(MT-CYB):m.14727T>C	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690208	NC_012920.1(MT-CYB):m.14716C>T	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690207	NC_012920.1(MT-TE):m.14710G>A	MT-TE	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690206	NC_012920.1(MT-CYB):m.14696A>C	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690205	NC_012920.1(MT-CYB):m.14696A>G	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690204	NC_012920.1(MT-CYB):m.14693A>G	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690203	NC_012920.1(MT-CYB):m.14691C>T	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690202	NC_012920.1(MT-CYB):m.14690A>G	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign

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