4537[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	Leigh syndrome +1 more	GBenign/Likely benign
Select item 693260	NC_012920.1(MT-ND3):m.10086A>G	MT-ND3	Single nucleotide variant	Leigh syndrome	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	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	Leigh syndrome +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	Leigh syndrome	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60