4540[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1:m.5782_13922del8141	MT-TS2, MT-TY +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1:m.5794_14876del9083	MT-ATP6, MT-TL2 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430675	NC_012920.1:m.6469_15587del9119	MT-ATP8, MT-CO1 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1:m.7129_13991del6863	MT-ND4, MT-TH +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1:m.8290_13040del4751	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1:m.8350_13450del	MT-TR, MT-TS2 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1:m.8483_13459del4977	MT-TG, MT-TH +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1:m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 430681	NC_012920.1:m.8587_12967del4381	MT-ND4L, MT-ND5 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1:m.8815_13722del4908	MT-CO3, MT-ND3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1:m.8839_14895del6057	MT-TH, MT-TL2 +12 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 430684	NC_012920.1:m.10106_15067del4962	MT-ND4, MT-ND4L +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-TL2, MT-TS2 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 430685	NC_012920.1:m.11263_15374del4112	MT-TE, MT-TH +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430686	NC_012920.1:m.12114_14420del2307	MT-ND4, MT-ND5 +4 more	Deletion	Mitochondrial disease	GPathogenic
Select item 29999	m.12338T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693419	NC_012920.1(MT-ND5):m.12340A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693420	NC_012920.1(MT-ND5):m.12341C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693421	NC_012920.1(MT-ND5):m.12344T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 445363	NC_012920.1(MT-ND5):m.12346C>T	MT-ND5	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 693422	NC_012920.1(MT-ND5):m.12349A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693423	NC_012920.1(MT-ND5):m.12352A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693424	NC_012920.1(MT-ND5):m.12358A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693425	NC_012920.1(MT-ND5):m.12361A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693426	NC_012920.1(MT-ND5):m.12362C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693427	NC_012920.1(MT-ND5):m.12367A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 522717	NC_012920.1:m.12372G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease +1 more	GConflicting classifications of pathogenicity
Select item 693428	NC_012920.1(MT-ND5):m.12373A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693429	NC_012920.1(MT-ND5):m.12382A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693430	NC_012920.1(MT-ND5):m.12383T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693431	NC_012920.1(MT-ND5):m.12386C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693432	NC_012920.1(MT-ND5):m.12389C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9705	m.12397A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693433	NC_012920.1(MT-ND5):m.12400A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693434	NC_012920.1(MT-ND5):m.12401C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693435	NC_012920.1(MT-ND5):m.12403C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693436	NC_012920.1(MT-ND5):m.12406G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693437	NC_012920.1(MT-ND5):m.12410A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693440	NC_012920.1(MT-ND5):m.12425del	MT-ND5	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693438	NC_012920.1(MT-ND5):m.12424A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693439	NC_012920.1(MT-ND5):m.12425A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693441	NC_012920.1(MT-ND5):m.12426C>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235471	NC_012920.1:m.12432C>T	MT-ND5	Single nucleotide variant	not provided	GUncertain significance
Select item 693442	NC_012920.1(MT-ND5):m.12436C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693443	NC_012920.1(MT-ND5):m.12437A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693445	NC_012920.1(MT-ND5):m.12448T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693444	NC_012920.1(MT-ND5):m.12448T>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693446	NC_012920.1(MT-ND5):m.12451A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693447	NC_012920.1(MT-ND5):m.12454G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693448	NC_012920.1(MT-ND5):m.12457G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693449	NC_012920.1(MT-ND5):m.12458C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693450	NC_012920.1(MT-ND5):m.12479T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693452	NC_012920.1(MT-ND5):m.12481T>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693451	NC_012920.1(MT-ND5):m.12481T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693453	NC_012920.1(MT-ND5):m.12490A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 446034	NC_012920.1:m.12493A>G	MT-ND5	Single nucleotide variant	not provided	GUncertain significance
Select item 918027	NC_012920.1(MT-ND5):m.12499A>G	MT-ND5	Single nucleotide variant	not provided	Gnot provided
Select item 693454	NC_012920.1(MT-ND5):m.12501G>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693455	NC_012920.1(MT-ND5):m.12509A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693456	NC_012920.1(MT-ND5):m.12512A>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693457	NC_012920.1(MT-ND5):m.12520A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693458	NC_012920.1(MT-ND5):m.12530A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235010	NC_012920.1:m.12535C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693459	NC_012920.1(MT-ND5):m.12542C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693460	NC_012920.1(MT-ND5):m.12544A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693461	NC_012920.1(MT-ND5):m.12545C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693462	NC_012920.1(MT-ND5):m.12556A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693463	NC_012920.1(MT-ND5):m.12557C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693464	NC_012920.1(MT-ND5):m.12560A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693465	NC_012920.1(MT-ND5):m.12561G>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693466	NC_012920.1(MT-ND5):m.12587A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693467	NC_012920.1(MT-ND5):m.12599T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693468	NC_012920.1(MT-ND5):m.12601T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693469	NC_012920.1(MT-ND5):m.12613G>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693470	NC_012920.1(MT-ND5):m.12622G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693471	NC_012920.1(MT-ND5):m.12631T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693472	NC_012920.1(MT-ND5):m.12634A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693473	NC_012920.1(MT-ND5):m.12661A>T	MT-ND5 (N109Y)	Single nucleotide variant (missense variant)	Leigh syndrome	GLikely benign
Select item 693474	NC_012920.1(MT-ND5):m.12662A>G	MT-ND5 (N109S)	Single nucleotide variant (missense variant)	Leigh syndrome	GBenign
Select item 693475	NC_012920.1(MT-ND5):m.12673A>G	MT-ND5 (N113D)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 693476	NC_012920.1(MT-ND5):m.12674A>G	MT-ND5 (N113S)	Single nucleotide variant (missense variant)	Leigh syndrome	GLikely benign
Select item 235613	NC_012920.1:m.12681T>C	MT-ND5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 9698	m.12706T>C	MT-ND5 (F124L)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693477	NC_012920.1(MT-ND5):m.12713T>C	MT-ND5 (I126T)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 693478	NC_012920.1(MT-ND5):m.12715A>G	MT-ND5 (T127A)	Single nucleotide variant (missense variant)	Leigh syndrome	GBenign
Select item 693479	NC_012920.1(MT-ND5):m.12730G>A	MT-ND5 (V132I)	Single nucleotide variant (missense variant)	Leigh syndrome	GLikely benign
Select item 693480	NC_012920.1(MT-ND5):m.12743A>G	MT-ND5 (N136S)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 693481	NC_012920.1(MT-ND5):m.12757T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9699	m.12770A>G	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 693482	NC_012920.1(MT-ND5):m.12775G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693483	NC_012920.1(MT-ND5):m.12797T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693484	NC_012920.1(MT-ND5):m.12799A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235499	NC_012920.1:m.12810A>G	MT-ND5	Single nucleotide variant	not provided	GLikely benign
Select item 65510	m.12811T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 693485	NC_012920.1(MT-ND5):m.12814G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693486	NC_012920.1(MT-ND5):m.12820G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693487	NC_012920.1(MT-ND5):m.12835G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693488	NC_012920.1(MT-ND5):m.12836C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GUncertain significance

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