4541[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1(MT-TS2):m.8839_14895del	MT-ND5, MT-ND6 +12 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 430685	NC_012920.1(MT-TS2):m.11263_15374del	MT-TE, MT-CYB +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430686	NC_012920.1(MT-TS2):m.12114_14420del	MT-ND4, MT-ND5 +4 more	Deletion	Mitochondrial disease	GPathogenic
Select item 693678	NC_012920.1(MT-ND6):m.14153T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693679	NC_012920.1(MT-ND6):m.14154T>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693680	NC_012920.1(MT-ND6):m.14162G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693681	NC_012920.1(MT-ND6):m.14163C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693682	NC_012920.1(MT-ND6):m.14178T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693684	NC_012920.1(MT-ND6):m.14180T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693683	NC_012920.1(MT-ND6):m.14180T>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693685	NC_012920.1(MT-ND6):m.14181A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693686	NC_012920.1(MT-ND6):m.14189A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693687	NC_012920.1(MT-ND6):m.14193A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693688	NC_012920.1(MT-ND6):m.14198G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693689	NC_012920.1(MT-ND6):m.14199T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693690	NC_012920.1(MT-ND6):m.14207G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693691	NC_012920.1(MT-ND6):m.14210A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693692	NC_012920.1(MT-ND6):m.14211C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 3337328	NC_012920.1(MT-ND6):m.14213A>G	MT-ND6	Single nucleotide variant	not provided	GUncertain significance
Select item 693693	NC_012920.1(MT-ND6):m.14225C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693694	NC_012920.1(MT-ND6):m.14226G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693695	NC_012920.1(MT-ND6):m.14231T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693696	NC_012920.1(MT-ND6):m.14234T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 224776	NC_012920.1:m.14248dupC	MT-ND6	Duplication	Oxyphilic adenoma	GPathogenic
Select item 693697	NC_012920.1(MT-ND6):m.14249G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693698	NC_012920.1(MT-ND6):m.14256T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693699	NC_012920.1(MT-ND6):m.14258G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693700	NC_012920.1(MT-ND6):m.14259G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693701	NC_012920.1(MT-ND6):m.14276C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65516	NC_012920.1(MT-ND6):m.14279G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693703	NC_012920.1(MT-ND6):m.14280A>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693702	NC_012920.1(MT-ND6):m.14280A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693704	NC_012920.1(MT-ND6):m.14297A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693705	NC_012920.1(MT-ND6):m.14301T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693706	NC_012920.1(MT-ND6):m.14307T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693707	NC_012920.1(MT-ND6):m.14312A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693708	NC_012920.1(MT-ND6):m.14315C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693709	NC_012920.1(MT-ND6):m.14318T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9695	NC_012920.1(MT-ND6):m.14319T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65512	NC_012920.1(MT-ND6):m.14325T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693710	NC_012920.1(MT-ND6):m.14328C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693711	NC_012920.1(MT-ND6):m.14334C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693712	NC_012920.1(MT-ND6):m.14339A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693713	NC_012920.1(MT-ND6):m.14340C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693714	NC_012920.1(MT-ND6):m.14348T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693715	NC_012920.1(MT-ND6):m.14357A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 218344	NC_012920.1(MT-ND6):m.14372C>A	MT-ND6	Single nucleotide variant	Mediastinal germ cell tumor +1 more	GUncertain significance
Select item 693716	NC_012920.1(MT-ND6):m.14375A>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693717	NC_012920.1(MT-ND6):m.14382T>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693718	NC_012920.1(MT-ND6):m.14384G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235743	NC_012920.1(MT-ND6):m.14393A>G	MT-ND6	Single nucleotide variant	Leigh syndrome +1 more	GBenign/Likely benign
Select item 693719	NC_012920.1(MT-ND6):m.14405A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693720	NC_012920.1(MT-ND6):m.14417A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693721	NC_012920.1(MT-ND6):m.14420C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693722	NC_012920.1(MT-ND6):m.14423G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693723	NC_012920.1(MT-ND6):m.14433C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693724	NC_012920.1(MT-ND6):m.14444T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9692	NC_012920.1(MT-ND6):m.14453G>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9689	NC_012920.1(MT-ND6):m.14459G>A	MT-ND5, MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693725	NC_012920.1(MT-ND6):m.14462G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
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 693727	NC_012920.1(MT-ND6):m.14466T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693728	NC_012920.1(MT-ND6):m.14468T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235574	NC_012920.1:m.14470T>A	MT-ND6	Single nucleotide variant	not provided	GLikely benign
Select item 376998	NC_012920.1:m.14476G>A	MT-ND6	Single nucleotide variant	not provided	GBenign
Select item 523306	NC_012920.1:m.14477A>G	MT-ND6	Single nucleotide variant	Cognitive impairment +6 more	GUncertain significance
Select item 65513	m.14482C>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9693	NC_012920.1(MT-ND6):m.14482C>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693729	NC_012920.1(MT-ND6):m.14484T>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9688	NC_012920.1(MT-ND6):m.14484T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9694	NC_012920.1(MT-ND6):m.14487T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9691	m.14495A>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65514	NC_012920.1(MT-ND6):m.14498T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 3251970	NC_012920.1(MT-ND6):m.14500A>T	MT-ND6	Single nucleotide variant	Leber optic atrophy	GUncertain significance
Select item 690281	NC_012920.1(MT-ND6):m.14502T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 800503	NC_012920.1(MT-ND6):m.14513_14514del	MT-ND6	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693730	NC_012920.1(MT-ND6):m.14514T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693731	NC_012920.1(MT-ND6):m.14523T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693732	NC_012920.1(MT-ND6):m.14529C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693733	NC_012920.1(MT-ND6):m.14544G>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693734	NC_012920.1(MT-ND6):m.14552A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693735	NC_012920.1(MT-ND6):m.14553C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693736	NC_012920.1(MT-ND6):m.14562C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 370059	NC_012920.1:m.14563C>T	MT-ND6	Single nucleotide variant	Mitochondrial cytopathy	GUncertain significance
Select item 693737	NC_012920.1(MT-ND6):m.14564A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 65515	m.14568C>T	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693738	NC_012920.1(MT-ND6):m.14571T>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693739	NC_012920.1(MT-ND6):m.14573A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693740	NC_012920.1(MT-ND6):m.14574C>T	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693741	NC_012920.1(MT-ND6):m.14576A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693743	NC_012920.1(MT-ND6):m.14577T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693742	NC_012920.1(MT-ND6):m.14577T>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693744	NC_012920.1(MT-ND6):m.14582A>G	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9690	m.14596A>T	MT-ND6	Single nucleotide variant	Leber optic atrophy and dystonia	GPathogenic
Select item 209173	NC_012920.1(MT-ND6):m.14597A>G	MT-ND6	Single nucleotide variant	Dysarthria +3 more	GConflicting classifications of pathogenicity

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