4538[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
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 430674	NC_012920.1(MT-TS1):m.6005_11222del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430677	NC_012920.1(MT-TR):m.7731_11256del	MT-ATP6, MT-ATP8 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 430681	NC_012920.1(MT-TS2):m.8587_12967del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1(MT-TS2):m.8815_13722del	MT-ATP6, MT-CO3 +9 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 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
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 693315	NC_012920.1(MT-ND4):m.10775G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693316	NC_012920.1(MT-ND4):m.10776T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693317	NC_012920.1(MT-ND4):m.10785T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693318	NC_012920.1(MT-ND4):m.10791T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 445798	NC_012920.1:m.10798A>G	MT-ND4	Single nucleotide variant	not provided	GLikely benign
Select item 693319	NC_012920.1(MT-ND4):m.10845C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693320	NC_012920.1(MT-ND4):m.10857T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693321	NC_012920.1(MT-ND4):m.10863G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 684482	NC_012920.1(MT-ND4):m.10887A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693322	NC_012920.1(MT-ND4):m.10895A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693323	NC_012920.1(MT-ND4):m.10899A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693324	NC_012920.1(MT-ND4):m.10907T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693325	NC_012920.1(MT-ND4):m.10911G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693326	NC_012920.1(MT-ND4):m.10913T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693327	NC_012920.1(MT-ND4):m.10914G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693328	NC_012920.1(MT-ND4):m.10915T>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693329	NC_012920.1(MT-ND4):m.10920C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693330	NC_012920.1(MT-ND4):m.10922A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 618728	NC_012920.1(MT-ND4):m.10931T>C	MT-ND4	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 693331	NC_012920.1(MT-ND4):m.10932C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 693332	NC_012920.1(MT-ND4):m.11004G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693333	NC_012920.1(MT-ND4):m.11013C>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693334	NC_012920.1(MT-ND4):m.11016G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618729	NC_012920.1:m.11016G>C	MT-ND4	Single nucleotide variant	not provided	GUncertain significance
Select item 693335	NC_012920.1(MT-ND4):m.11025T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 487804	NC_012920.1:m.11032delA	MT-ND4	Deletion	Ependymoma	GUncertain significance
Select item 693336	NC_012920.1(MT-ND4):m.11039C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693337	NC_012920.1(MT-ND4):m.11043A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693338	NC_012920.1(MT-ND4):m.11061C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693339	NC_012920.1(MT-ND4):m.11069A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9709	NC_012920.1(MT-ND4):m.11084A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693340	NC_012920.1(MT-ND4):m.11087T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693341	NC_012920.1(MT-ND4):m.11090A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693342	NC_012920.1(MT-ND4):m.11111T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693343	NC_012920.1(MT-ND4):m.11120T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693344	NC_012920.1(MT-ND4):m.11129A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693345	NC_012920.1(MT-ND4):m.11139T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693346	NC_012920.1(MT-ND4):m.11144A>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693347	NC_012920.1(MT-ND4):m.11150G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693348	NC_012920.1(MT-ND4):m.11151C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693349	NC_012920.1(MT-ND4):m.11157T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235673	NC_012920.1:m.11167A>G	MT-ND4	Single nucleotide variant	not provided	GLikely benign
Select item 693350	NC_012920.1(MT-ND4):m.11172A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693351	NC_012920.1(MT-ND4):m.11177C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693352	NC_012920.1(MT-ND4):m.11204T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693353	NC_012920.1(MT-ND4):m.11223T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693354	NC_012920.1(MT-ND4):m.11232T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693355	NC_012920.1(MT-ND4):m.11246G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693356	NC_012920.1(MT-ND4):m.11252A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65509	NC_012920.1(MT-ND4):m.11253T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693357	NC_012920.1(MT-ND4):m.11255T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 430685	NC_012920.1(MT-TS2):m.11263_15374del	MT-TE, MT-CYB +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 693358	NC_012920.1(MT-ND4):m.11268C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693359	NC_012920.1(MT-ND4):m.11289T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693360	NC_012920.1(MT-ND4):m.11301T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693361	NC_012920.1(MT-ND4):m.11318T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693362	NC_012920.1(MT-ND4):m.11337A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 523304	NC_012920.1(MT-ND4):m.11360A>G	MT-ND4	Single nucleotide variant	Seizure +2 more	GUncertain significance
Select item 693363	NC_012920.1(MT-ND4):m.11361T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693364	NC_012920.1(MT-ND4):m.11363G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693365	NC_012920.1(MT-ND4):m.11393C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 377260	NC_012920.1:m.11428C>T	MT-ND4	Single nucleotide variant	not provided	GLikely benign
Select item 523305	NC_012920.1:m.11443A>C	MT-ND4	Single nucleotide variant	Visual impairment +4 more	GUncertain significance
Select item 693366	NC_012920.1(MT-ND4):m.11447G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693367	NC_012920.1(MT-ND4):m.11453G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 522716	NC_012920.1:m.11467A>G	MT-ND4	Single nucleotide variant	Mitochondrial disease +1 more	GConflicting classifications of pathogenicity
Select item 693368	NC_012920.1(MT-ND4):m.11498A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235733	NC_012920.1:m.11560A>G	MT-ND4	Single nucleotide variant	not provided	GLikely benign
Select item 693369	NC_012920.1(MT-ND4):m.11577G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693370	NC_012920.1(MT-ND4):m.11582A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693371	NC_012920.1(MT-ND4):m.11583T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 377091	NC_012920.1:m.11590A>G	MT-ND4	Single nucleotide variant	not provided	GUncertain significance
Select item 693372	NC_012920.1(MT-ND4):m.11615A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693373	NC_012920.1(MT-ND4):m.11621_11622del	MT-ND4	Deletion	Leigh syndrome	GLikely pathogenic
Select item 693374	NC_012920.1(MT-ND4):m.11634G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693375	NC_012920.1(MT-ND4):m.11654A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9710	NC_012920.1(MT-ND4):m.11696G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693376	NC_012920.1(MT-ND4):m.11708A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693377	NC_012920.1(MT-ND4):m.11711G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 3027424	NC_012920.1(MT-ND4):m.11719G>A	MT-ND4	Single nucleotide variant	Venous thromboembolism	Gassociation
Select item 693378	NC_012920.1(MT-ND4):m.11733T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9711	NC_012920.1(MT-ND4):m.11777C>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9708	NC_012920.1(MT-ND4):m.11778G>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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