MT-ND3[gene] - ClinVar

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Items: 60

	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 693259	NC_012920.1(MT-ND3):m.10083A>G	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 235627	NC_012920.1(MT-ND3):m.10084T>C	MT-ND3	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 693260	NC_012920.1(MT-ND3):m.10086A>G	MT-ND3	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 693261	NC_012920.1(MT-ND3):m.10098G>T	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 693262	NC_012920.1(MT-ND3):m.10110A>G	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693263	NC_012920.1(MT-ND3):m.10111T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693264	NC_012920.1(MT-ND3):m.10113A>G	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 156375	NC_012920.1(MT-ND3):m.10134C>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693265	NC_012920.1(MT-ND3):m.10143G>A	MT-ND3	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 693266	NC_012920.1(MT-ND3):m.10146T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693267	NC_012920.1(MT-ND3):m.10158T>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9714	NC_012920.1(MT-ND3):m.10158T>C	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693268	NC_012920.1(MT-ND3):m.10159C>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 1701720	NC_012920.1(MT-ND3):m.10161A>T	MT-ND3	Single nucleotide variant	Mitochondrial disease	GUncertain significance
Select item 1328510	NC_012920.1(MT-ND3):m.10172G>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 693269	NC_012920.1(MT-ND3):m.10188A>G	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 9712	NC_012920.1(MT-ND3):m.10191T>C	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693271	NC_012920.1(MT-ND3):m.10192C>T	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693270	NC_012920.1(MT-ND3):m.10192C>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 9715	NC_012920.1(MT-ND3):m.10197G>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693272	NC_012920.1(MT-ND3):m.10203G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693273	NC_012920.1(MT-ND3):m.10225T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693274	NC_012920.1(MT-ND3):m.10236A>G	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65508	NC_012920.1(MT-ND3):m.10237T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 155887	NC_012920.1(MT-ND3):m.10254G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 693275	NC_012920.1(MT-ND3):m.10266G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693276	NC_012920.1(MT-ND3):m.10269C>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693277	NC_012920.1(MT-ND3):m.10320G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235782	NC_012920.1(MT-ND3):m.10321T>C	MT-ND3	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 693278	NC_012920.1(MT-ND3):m.10324T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693280	NC_012920.1(MT-ND3):m.10326T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693279	NC_012920.1(MT-ND3):m.10326T>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693281	NC_012920.1(MT-ND3):m.10329T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235460	NC_012920.1:m.10335T>C	MT-ND3	Single nucleotide variant	not provided	GLikely benign
Select item 693282	NC_012920.1(MT-ND3):m.10345T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693283	NC_012920.1(MT-ND3):m.10348T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693284	NC_012920.1(MT-ND3):m.10353G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693285	NC_012920.1(MT-ND3):m.10365G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693286	NC_012920.1(MT-ND3):m.10366C>T	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693287	NC_012920.1(MT-ND3):m.10371G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 3256117	NC_012920.1(MT-ND3):m.10372A>G	MT-ND3	Single nucleotide variant	sensorimotor axonal polyneuropathy	Gnot provided
Select item 693288	NC_012920.1(MT-ND3):m.10398A>T	MT-ND3	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 9713	NC_012920.1(MT-ND3):m.10398A>G	MT-ND3	Single nucleotide variant	not provided +1 more	GBenign
Select item 693289	NC_012920.1(MT-ND3):m.10399C>T	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693290	NC_012920.1(MT-ND3):m.10401G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	GUncertain significance

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Items: 60