Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


46 records found for search term ND3
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151235746CV1319159single nucleotide variantNC_012920.1(MT-ND3):m.10172G>AMitochondrial disease [RCV001796951]likely benignMT1017210172Human1name
9586933CV165636single nucleotide variantNC_012920.1(MT-ND3):m.10254G>ALeigh syndrome [RCV000144012]|Mitochondrial disease [RCV005251082]pathogenic|likely pathogenic|not providedMT1025410254Human2name
9589314CV166157single nucleotide variantNC_012920.1(MT-ND3):m.10134C>ALeigh syndrome [RCV000144458]|Mitochondrial disease [RCV003985280]pathogenic|uncertain significanceMT1013410134Human2name
153350056CV1694110single nucleotide variantNC_012920.1(MT-ND3):m.10161A>TMitochondrial disease [RCV002276493]uncertain significanceMT1016110161Human1name
11350975CV237143single nucleotide variantNC_012920.1(MT-ND3):m.10335T>Cnot provided [RCV000224727]likely benignMT1033510335Humanname
11350683CV237308single nucleotide variantNC_012920.1(MT-ND3):m.10084T>CLeigh syndrome [RCV000854616]|not provided [RCV000224206]benign|likely benignMT1008410084Human1name
11350947CV237461single nucleotide variantNC_012920.1(MT-ND3):m.10321T>CLeigh syndrome [RCV000854636]|not provided [RCV000224675]benign|likely benignMT1032110321Human1name
8555047CV24751single nucleotide variantNC_012920.1(MT-ND3):m.10191T>CLeigh syndrome [RCV000144010]|Mitochondrial complex 1 deficiency, mitochondrial type 1 [RCV000010358]|Mitochondrial complex I deficiency [RCV001542636]|Mitochondrial disease [RCV002291212]pathogenic|likely pathogenicMT1019110191Human4name
8555048CV24752single nucleotide variantNC_012920.1(MT-ND3):m.10398A>GLeigh syndrome [RCV000854647]|Parkinson disease, resistance to [RCV000010359]|not provided [RCV004713167]pathogenic|benign|protectiveMT1039810398Human2name
8555049CV24753single nucleotide variantNC_012920.1(MT-ND3):m.10158T>CLeigh syndrome [RCV000144009]|Mitochondrial complex 1 deficiency, mitochondrial type 1 [RCV000010360]|Mitochondrial disease [RCV001796716]|not provided [RCV000224598]pathogenicMT1015810158Human3name
8555050CV24754single nucleotide variantNC_012920.1(MT-ND3):m.10197G>ALeber optic atrophy and dystonia [RCV000010363]|Leigh syndrome [RCV000144011]|Mitochondrial DNA-Associated Leigh Syndrome and NARP [RCV002247309]|Mitochondrial complex 1 deficiency, mitochondrial type 1 [RCV000010362]|Mitochondrial disease [RCV002291213]|Mitochondrial myopathy, episodic, with optic pathogenic|likely pathogenicMT1019710197Human6name
407453660CV3414880single nucleotide variantNC_012920.1(MT-ND3):m.10372A>Gsensorimotor axonal polyneuropathy [RCV004597216]not providedMT1037210372Humanname
598160466CV3897281single nucleotide variantNC_012920.1(MT-ND3):m.10176G>AMELAS syndrome [RCV005368251]likely pathogenicMT1017610176Human1name
15016333CV680149single nucleotide variantNC_012920.1(MT-ND3):m.10083A>GLeigh syndrome [RCV000854615]likely benignMT1008310083Human1name
15016334CV680150single nucleotide variantNC_012920.1(MT-ND3):m.10086A>GLeigh syndrome [RCV000854617]|not provided [RCV004714128]benignMT1008610086Human1name
15016335CV680151single nucleotide variantNC_012920.1(MT-ND3):m.10098G>TLeigh syndrome [RCV000854618]likely benignMT1009810098Human1name
15016336CV680152single nucleotide variantNC_012920.1(MT-ND3):m.10110A>GLeigh syndrome [RCV000854619]uncertain significanceMT1011010110Human1name
15016337CV680153single nucleotide variantNC_012920.1(MT-ND3):m.10111T>CLeigh syndrome [RCV000854620]uncertain significanceMT1011110111Human1name
15016338CV680154single nucleotide variantNC_012920.1(MT-ND3):m.10113A>GLeigh syndrome [RCV000854621]likely benignMT1011310113Human1name
15016339CV680155single nucleotide variantNC_012920.1(MT-ND3):m.10143G>ALeigh syndrome [RCV000854622]|not provided [RCV004714129]benignMT1014310143Human1name
15016340CV680156single nucleotide variantNC_012920.1(MT-ND3):m.10146T>CLeigh syndrome [RCV000854623]uncertain significanceMT1014610146Human1name
15016341CV680157single nucleotide variantNC_012920.1(MT-ND3):m.10158T>ALeigh syndrome [RCV000854624]uncertain significanceMT1015810158Human1name
15016342CV680158single nucleotide variantNC_012920.1(MT-ND3):m.10159C>ALeigh syndrome [RCV000854625]uncertain significanceMT1015910159Human1name
15016343CV680159single nucleotide variantNC_012920.1(MT-ND3):m.10188A>GLeigh syndrome [RCV000854626]likely benignMT1018810188Human1name
15016344CV680160single nucleotide variantNC_012920.1(MT-ND3):m.10192C>ALeigh syndrome [RCV000854627]likely benignMT1019210192Human1name
15016345CV680161single nucleotide variantNC_012920.1(MT-ND3):m.10192C>TLeigh syndrome [RCV000854628]benignMT1019210192Human1name
15016346CV680162single nucleotide variantNC_012920.1(MT-ND3):m.10203G>ALeigh syndrome [RCV000854629]benignMT1020310203Human1name
15016347CV680163single nucleotide variantNC_012920.1(MT-ND3):m.10225T>CLeigh syndrome [RCV000854630]uncertain significanceMT1022510225Human1name
15016348CV680164single nucleotide variantNC_012920.1(MT-ND3):m.10236A>GLeigh syndrome [RCV000854631]uncertain significanceMT1023610236Human1name
15016349CV680165single nucleotide variantNC_012920.1(MT-ND3):m.10266G>ALeigh syndrome [RCV000854633]uncertain significanceMT1026610266Human1name
15016350CV680166single nucleotide variantNC_012920.1(MT-ND3):m.10269C>ALeigh syndrome [RCV000854634]uncertain significanceMT1026910269Human1name
15016351CV680167single nucleotide variantNC_012920.1(MT-ND3):m.10320G>ALeigh syndrome [RCV000854635]benignMT1032010320Human1name
15016352CV680168single nucleotide variantNC_012920.1(MT-ND3):m.10324T>CLeigh syndrome [RCV000854637]benignMT1032410324Human1name
15016353CV680169single nucleotide variantNC_012920.1(MT-ND3):m.10326T>ALeigh syndrome [RCV000854638]likely benignMT1032610326Human1name
15016354CV680170single nucleotide variantNC_012920.1(MT-ND3):m.10326T>CLeigh syndrome [RCV000854639]uncertain significanceMT1032610326Human1name
15016355CV680171single nucleotide variantNC_012920.1(MT-ND3):m.10329T>CLeigh syndrome [RCV000854640]uncertain significanceMT1032910329Human1name
15016356CV680172single nucleotide variantNC_012920.1(MT-ND3):m.10345T>CLeigh syndrome [RCV000854641]benignMT1034510345Human1name
15016357CV680173single nucleotide variantNC_012920.1(MT-ND3):m.10348T>CLeigh syndrome [RCV000854642]uncertain significanceMT1034810348Human1name
15016358CV680174single nucleotide variantNC_012920.1(MT-ND3):m.10353G>ALeigh syndrome [RCV000854643]uncertain significanceMT1035310353Human1name
15016359CV680175single nucleotide variantNC_012920.1(MT-ND3):m.10365G>ALeigh syndrome [RCV000854644]benignMT1036510365Human1name
15016360CV680176single nucleotide variantNC_012920.1(MT-ND3):m.10366C>TLeigh syndrome [RCV000854645]uncertain significanceMT1036610366Human1name
15016361CV680177single nucleotide variantNC_012920.1(MT-ND3):m.10371G>ALeigh syndrome [RCV000854646]uncertain significanceMT1037110371Human1name
15016362CV680178single nucleotide variantNC_012920.1(MT-ND3):m.10398A>TLeigh syndrome [RCV000854648]likely benignMT1039810398Human1name
15016363CV680179single nucleotide variantNC_012920.1(MT-ND3):m.10399C>TLeigh syndrome [RCV000854649]uncertain significanceMT1039910399Human1name
15016364CV680180single nucleotide variantNC_012920.1(MT-ND3):m.10401G>ALeigh syndrome [RCV000854650]uncertain significanceMT1040110401Human1name
8555183CV76416single nucleotide variantNC_012920.1(MT-ND3):m.10237T>CLeber optic atrophy [RCV000055695]|Leigh syndrome [RCV000854632]pathogenic|benign|not providedMT1023710237Human3name