4514[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 9646	NC_012920.1(MT-CO3):m.9205_9206del	MT-ATP6, MT-CO3	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693125	NC_012920.1(MT-CO3):m.9210A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693126	NC_012920.1(MT-CO3):m.9211C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693127	NC_012920.1(MT-CO3):m.9214A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693128	NC_012920.1(MT-CO3):m.9217A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693129	NC_012920.1(MT-CO3):m.9219T>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693130	NC_012920.1(MT-CO3):m.9234A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 370052	NC_012920.1:m.9237G>A	MT-CO3	Single nucleotide variant	Leber optic atrophy	GPathogenic
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 693131	NC_012920.1(MT-CO3):m.9247G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693132	NC_012920.1(MT-CO3):m.9261A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693133	NC_012920.1(MT-CO3):m.9265G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693134	NC_012920.1(MT-CO3):m.9267G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693135	NC_012920.1(MT-CO3):m.9270C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 599028	NC_012920.1:m.9273_9274insATC	MT-CO3	Insertion	Tetralogy of Fallot	GPathogenic
Select item 693136	NC_012920.1(MT-CO3):m.9276G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 235461	NC_012920.1:m.9281C>T	MT-CO3	Single nucleotide variant	not provided	GUncertain significance
Select item 693137	NC_012920.1(MT-CO3):m.9285A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693138	NC_012920.1(MT-CO3):m.9286T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693139	NC_012920.1(MT-CO3):m.9288A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693140	NC_012920.1(MT-CO3):m.9294G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693141	NC_012920.1(MT-CO3):m.9300G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693142	NC_012920.1(MT-CO3):m.9301C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693143	NC_012920.1(MT-CO3):m.9304T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693144	NC_012920.1(MT-CO3):m.9309T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 590894	NC_012920.1:m.9311_9312insGCA	MT-CO3	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 693145	NC_012920.1(MT-CO3):m.9316T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618214	NC_012920.1:m.9318C>T	MT-CO3	Single nucleotide variant	not provided	GUncertain significance
Select item 693146	NC_012920.1(MT-CO3):m.9319A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693147	NC_012920.1(MT-CO3):m.9324A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693148	NC_012920.1(MT-CO3):m.9325T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693150	NC_012920.1(MT-CO3):m.9327A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693149	NC_012920.1(MT-CO3):m.9327A>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693151	NC_012920.1(MT-CO3):m.9331T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693152	NC_012920.1(MT-CO3):m.9336A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693153	NC_012920.1(MT-CO3):m.9337T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693154	NC_012920.1(MT-CO3):m.9342G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235225	NC_012920.1:m.9353C>T	MT-CO3	Single nucleotide variant	not provided	GUncertain significance
Select item 693155	NC_012920.1(MT-CO3):m.9355A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 523307	NC_012920.1(MT-CO3):m.9355A>T	MT-CO3	Single nucleotide variant	Exercise intolerance +12 more	GUncertain significance
Select item 693156	NC_012920.1(MT-CO3):m.9357A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693157	NC_012920.1(MT-CO3):m.9367T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235541	NC_012920.1:m.9368A>G	MT-CO3	Single nucleotide variant	not provided	GLikely benign
Select item 3337314	NC_012920.1(MT-CO3):m.9369T>C	MT-CO3	Single nucleotide variant	not provided	GUncertain significance
Select item 9657	NC_012920.1(MT-CO3):m.9379G>A	MT-CO3	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GPathogenic
Select item 693158	NC_012920.1(MT-CO3):m.9387G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693159	NC_012920.1(MT-CO3):m.9390A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693160	NC_012920.1(MT-CO3):m.9391C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693161	NC_012920.1(MT-CO3):m.9405T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 599026	NC_012920.1:m.9429_9430insCCC	MT-CO3	Insertion	Tetralogy of Fallot	GPathogenic
Select item 590891	NC_012920.1:m.9431_9432insA	MT-CO3	Insertion	Abnormal aortic valve physiology	GPathogenic
Select item 9651	NC_012920.1(MT-CO3):m.9438G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693162	NC_012920.1(MT-CO3):m.9439G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 599027	NC_012920.1:m.9441_9442insTTT	MT-CO3	Insertion	Tetralogy of Fallot	GPathogenic
Select item 693163	NC_012920.1(MT-CO3):m.9445G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693164	NC_012920.1(MT-CO3):m.9448A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693166	NC_012920.1(MT-CO3):m.9456A>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693165	NC_012920.1(MT-CO3):m.9456A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 235458	NC_012920.1:m.9467T>C	MT-CO3	Single nucleotide variant	not provided	GLikely benign
Select item 693167	NC_012920.1(MT-CO3):m.9468A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693168	NC_012920.1(MT-CO3):m.9469C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693170	NC_012920.1(MT-CO3):m.9477G>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693169	NC_012920.1(MT-CO3):m.9477G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693171	NC_012920.1(MT-CO3):m.9478T>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 155885	NC_012920.1(MT-CO3):m.9478T>C	MT-CO3	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 693172	NC_012920.1(MT-CO3):m.9480T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9654	NC_012920.1(MT-CO3):m.9487_9501del	MT-CO3	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693173	NC_012920.1(MT-CO3):m.9481T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693174	NC_012920.1(MT-CO3):m.9484T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693175	NC_012920.1(MT-CO3):m.9489G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693176	NC_012920.1(MT-CO3):m.9490C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693177	NC_012920.1(MT-CO3):m.9495T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693178	NC_012920.1(MT-CO3):m.9508T>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235641	NC_012920.1:m.9509T>C	MT-CO3	Single nucleotide variant	not provided	GUncertain significance
Select item 693179	NC_012920.1(MT-CO3):m.9525G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693180	NC_012920.1(MT-CO3):m.9531A>G	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9656	NC_012920.1(MT-CO3):m.9537dup	MT-CO3	Duplication	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 3027421	NC_012920.1(MT-CO3):m.9540T>C	MT-CO3	Single nucleotide variant	Venous thromboembolism	GBenign
Select item 235374	NC_012920.1:m.9545A>G	MT-CO3	Single nucleotide variant	not provided	GBenign
Select item 693181	NC_012920.1(MT-CO3):m.9549C>T	MT-CO3	Single nucleotide variant	See cases +1 more	GUncertain significance
Select item 693182	NC_012920.1(MT-CO3):m.9564G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 439914	NC_012920.1:m.9568T>C	MT-CO3	Single nucleotide variant	not specified	GUncertain significance
Select item 693183	NC_012920.1(MT-CO3):m.9571C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693184	NC_012920.1(MT-CO3):m.9577T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693185	NC_012920.1(MT-CO3):m.9580A>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693186	NC_012920.1(MT-CO3):m.9582C>T	MT-CO3	Single nucleotide variant	Leigh syndrome	GUncertain significance

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