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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


111 records found for search term Dagla
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405289759CV3213310single nucleotide variantNM_006133.3(DAGLA):c.410-4G>ADAGLA-related disorder [RCV003961947]|not provided [RCV005426294]likely benign116172343061723430Human1name , trait , alternate_id
405294475CV3211434single nucleotide variantNM_006133.3(DAGLA):c.1657-4G>ADAGLA-related disorder [RCV003934374]likely benign116173946161739461Humanname , trait , alternate_id
616938306CV4013005single nucleotide variantNM_006133.3(DAGLA):c.1514+1G>Anot provided [RCV005410471]uncertain significance116173732561737325Humanname
405283008CV3216946single nucleotide variantNM_006133.3(DAGLA):c.1983+10C>TDAGLA-related disorder [RCV003979105]benign116174060261740602Humanname , trait , alternate_id
405289757CV3213254single nucleotide variantNM_006133.3(DAGLA):c.12C>T (p.Ile4=)DAGLA-related disorder [RCV003961939]likely benign116172016761720167Humanname , trait , alternate_id
405280268CV3200669single nucleotide variantNM_006133.3(DAGLA):c.63G>A (p.Pro21=)DAGLA-related disorder [RCV003977293]benign116172021861720218Human3name , trait , alternate_id
598251290CV3952816single nucleotide variantNM_006133.3(DAGLA):c.4C>T (p.Pro2Ser)Inborn genetic diseases [RCV005323033]uncertain significance116172015961720159Human1name
405266954CV3202029single nucleotide variantNM_006133.3(DAGLA):c.246C>T (p.Arg82=)DAGLA-related disorder [RCV003911512]likely benign116172082961720829Humanname , trait , alternate_id
408385074CV3526929single nucleotide variantNM_006133.3(DAGLA):c.96G>A (p.Trp32Ter)not provided [RCV004772242]uncertain significance116172067961720679Humanname
598251276CV3952813single nucleotide variantNM_006133.3(DAGLA):c.67A>G (p.Ile23Val)Inborn genetic diseases [RCV005323030]uncertain significance116172022261720222Human1name
15134705CV712922single nucleotide variantNM_006133.3(DAGLA):c.471C>T (p.Phe157=)not provided [RCV000965169]benign116172349561723495Humanname
15150439CV752723single nucleotide variantNM_006133.3(DAGLA):c.780T>C (p.Asn260=)not provided [RCV000923476]likely benign116172893961728939Humanname
150489163CV1265370single nucleotide variantNM_006133.3(DAGLA):c.2301G>A (p.Ala767=)DAGLA-related disorder [RCV003975961]|not provided [RCV001687406]benign116174366161743661Human1name , trait , alternate_id
401870778CV2766359single nucleotide variantNM_006133.3(DAGLA):c.166G>A (p.Val56Met)Inborn genetic diseases [RCV003361330]uncertain significance116172074961720749Human1name
401896309CV2773966single nucleotide variantNM_006133.3(DAGLA):c.161A>G (p.Asn54Ser)Inborn genetic diseases [RCV003373916]uncertain significance116172074461720744Human1name
401890863CV2778394single nucleotide variantNM_006133.3(DAGLA):c.124G>A (p.Gly42Ser)Inborn genetic diseases [RCV003354615]uncertain significance116172070761720707Human1name
401905275CV2816676single nucleotide variantNM_006133.3(DAGLA):c.1128G>A (p.Ala376=)not provided [RCV003395830]likely benign116173500261735002Humanname
405290851CV3197140single nucleotide variantNM_006133.3(DAGLA):c.1524G>A (p.Ala508=)DAGLA-related disorder [RCV003984702]benign116173769661737696Humanname , trait , alternate_id
405290384CV3207490single nucleotide variantNM_006133.3(DAGLA):c.2661C>T (p.Gly887=)DAGLA-related disorder [RCV003927070]likely benign116174402161744021Humanname , trait , alternate_id
405291905CV3207771single nucleotide variantNM_006133.3(DAGLA):c.2484C>T (p.Pro828=)DAGLA-related disorder [RCV003929456]likely benign116174384461743844Humanname , trait , alternate_id
405274214CV3211626single nucleotide variantNM_006133.3(DAGLA):c.1785C>G (p.Ala595=)DAGLA-related disorder [RCV003951449]likely benign116173959361739593Humanname , trait , alternate_id
405293587CV3214282single nucleotide variantNM_006133.3(DAGLA):c.2439G>A (p.Leu813=)DAGLA-related disorder [RCV003931983]benign116174379961743799Human9name , trait , alternate_id
405293587CV3214282single nucleotide variantNM_006133.3(DAGLA):c.2439G>A (p.Leu813=)DAGLA-related disorder [RCV003931983]benign116174379961743800Human9name , trait , alternate_id
405266219CV3221078single nucleotide variantNM_006133.3(DAGLA):c.2244G>A (p.Ala748=)DAGLA-related disorder [RCV003969203]likely benign116174360461743604Humanname , trait , alternate_id
596923005CV3530210single nucleotide variantNM_006133.3(DAGLA):c.241A>G (p.Met81Val)not provided [RCV004776809]uncertain significance116172082461720824Humanname
597672907CV3655162single nucleotide variantNM_006133.3(DAGLA):c.179G>A (p.Arg60His)Inborn genetic diseases [RCV004981560]uncertain significance116172076261720762Human1name
597672931CV3655166single nucleotide variantNM_006133.3(DAGLA):c.209T>C (p.Met70Thr)Inborn genetic diseases [RCV004981564]uncertain significance116172079261720792Human1name
598238780CV3893298single nucleotide variantNM_006133.3(DAGLA):c.271C>T (p.Arg91Cys)not provided [RCV005256031]uncertain significance116172085461720854Humanname
616939696CV4014193single nucleotide variantNM_006133.3(DAGLA):c.2269C>T (p.Leu757=)not provided [RCV005413686]likely benign116174362961743629Humanname
616939873CV4014410single nucleotide variantNM_006133.3(DAGLA):c.1761C>T (p.Ser587=)not provided [RCV005413904]likely benign116173956961739569Humanname
15146732CV712923single nucleotide variantNM_006133.3(DAGLA):c.1005C>T (p.Phe335=)DAGLA-related disorder [RCV003905923]|not provided [RCV000967208]benign116173487961734879Human1name , trait , alternate_id
15125371CV738048single nucleotide variantNM_006133.3(DAGLA):c.2052C>A (p.Thr684=)not provided [RCV000896750]likely benign116174123061741230Humanname
15129745CV752724single nucleotide variantNM_006133.3(DAGLA):c.1542G>A (p.Glu514=)not provided [RCV000919884]likely benign116173771461737714Humanname
38467658CV920831single nucleotide variantNM_006133.3(DAGLA):c.2007G>C (p.Gly669=)not provided [RCV001200345]likely benign116174118561741185Humanname
156040815CV2219512single nucleotide variantNM_006133.3(DAGLA):c.743G>A (p.Arg248Gln)Inborn genetic diseases [RCV002692249]uncertain significance116172825961728259Human1name
329953147CV2669859single nucleotide variantNM_006133.3(DAGLA):c.881A>G (p.Tyr294Cys)not provided [RCV003234483]uncertain significance116173134861731348Humanname
401879558CV2785263single nucleotide variantNM_006133.3(DAGLA):c.757G>A (p.Ala253Thr)Inborn genetic diseases [RCV003384701]uncertain significance116172827361728273Human1name
401937908CV2797011single nucleotide variantNM_006133.3(DAGLA):c.856A>T (p.Met286Leu)DAGLA-related disorder [RCV003416864]uncertain significance116173132361731323Humanname , trait , alternate_id
405259226CV3194575single nucleotide variantNM_006133.3(DAGLA):c.380A>G (p.Asn127Ser)DAGLA-related disorder [RCV003893969]uncertain significance116172293161722931Humanname , trait , alternate_id
405724702CV3235006deletionNM_006133.3(DAGLA):c.2484del (p.Glu829fs)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004526288]|See cases [RCV004018031]pathogenic116174384161743841Human1name
405679628CV3236702single nucleotide variantNM_006133.3(DAGLA):c.769G>A (p.Glu257Lys)Inborn genetic diseases [RCV004370853]uncertain significance116172828561728285Human1name
405679633CV3236703single nucleotide variantNM_006133.3(DAGLA):c.935A>G (p.Lys312Arg)Inborn genetic diseases [RCV004370854]uncertain significance116173140261731402Human1name
405852777CV3392553duplicationNM_006133.3(DAGLA):c.2613dup (p.Ser872fs)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004526298]pathogenic|uncertain significance116174396761743968Human1name
407459603CV3496837single nucleotide variantNM_006133.3(DAGLA):c.647C>G (p.Ser216Ter)Autism [RCV004698652]uncertain significance116172816361728163Human2name
408370571CV3511357single nucleotide variantNM_006133.3(DAGLA):c.998C>T (p.Pro333Leu)DAGLA-related disorder [RCV004739879]uncertain significance116173487261734872Humanname , trait , alternate_id
408388732CV3520871deletionNM_006133.3(DAGLA):c.2743del (p.Glu915fs)not provided [RCV004761704]uncertain significance116174410361744103Humanname
596939048CV3550262deletionNM_006133.3(DAGLA):c.2401del (p.Arg801fs)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004813564]pathogenic116174376061743760Human1name
597672940CV3655168single nucleotide variantNM_006133.3(DAGLA):c.835G>A (p.Asp279Asn)Inborn genetic diseases [RCV004981566]uncertain significance116172899461728994Human1name
156241280CV2246090single nucleotide variantNM_006133.3(DAGLA):c.1379G>T (p.Gly460Val)Inborn genetic diseases [RCV002768280]uncertain significance116173718961737189Human1name
155992352CV2281199single nucleotide variantNM_006133.3(DAGLA):c.2192T>C (p.Met731Thr)Inborn genetic diseases [RCV002882544]uncertain significance116174355261743552Human1name
156280106CV2315950single nucleotide variantNM_006133.3(DAGLA):c.2282C>T (p.Ser761Phe)Inborn genetic diseases [RCV002934885]uncertain significance116174364261743642Human1name
155977342CV2338754single nucleotide variantNM_006133.3(DAGLA):c.2318G>A (p.Arg773Gln)Inborn genetic diseases [RCV002946345]uncertain significance116174367861743678Human1name
156079846CV2341288single nucleotide variantNM_006133.3(DAGLA):c.2317C>T (p.Arg773Trp)Inborn genetic diseases [RCV002951733]uncertain significance116174367761743677Human1name
155921124CV2350617single nucleotide variantNM_006133.3(DAGLA):c.1167C>A (p.Asp389Glu)Inborn genetic diseases [RCV002991976]uncertain significance116173559961735599Human1name
156386555CV2364782single nucleotide variantNM_006133.3(DAGLA):c.2261C>T (p.Pro754Leu)Inborn genetic diseases [RCV002679888]uncertain significance116174362161743621Human1name
156052076CV2386537single nucleotide variantNM_006133.3(DAGLA):c.2893G>A (p.Glu965Lys)Inborn genetic diseases [RCV002705009]uncertain significance116174425361744253Human1name
156082520CV2394760single nucleotide variantNM_006133.3(DAGLA):c.2147C>T (p.Ala716Val)Inborn genetic diseases [RCV002783818]uncertain significance116174132561741325Human1name
329375138CV2431389single nucleotide variantNM_006133.3(DAGLA):c.2167G>A (p.Val723Ile)Inborn genetic diseases [RCV003173692]uncertain significance116174134561741345Human1name
329370536CV2435636single nucleotide variantNM_006133.3(DAGLA):c.1064G>A (p.Arg355Gln)Inborn genetic diseases [RCV003184261]uncertain significance116173493861734938Human1name
401763955CV2717177single nucleotide variantNM_006133.3(DAGLA):c.2605C>T (p.Arg869Trp)Inborn genetic diseases [RCV003300739]uncertain significance116174396561743965Human1name
401913206CV2830257single nucleotide variantNM_006133.3(DAGLA):c.2551C>T (p.Gln851Ter)not provided [RCV003441472]likely pathogenic116174391161743911Humanname
401942609CV2839690single nucleotide variantNM_006133.3(DAGLA):c.2468T>C (p.Ile823Thr)Inborn genetic diseases [RCV004364716]|not provided [RCV003456604]uncertain significance116174382861743828Human1name
405292313CV3199943single nucleotide variantNM_006133.3(DAGLA):c.2246C>T (p.Ala749Val)DAGLA-related disorder [RCV003964446]likely benign116174360661743606Humanname , trait , alternate_id
405279264CV3206862single nucleotide variantNM_006133.3(DAGLA):c.2249C>T (p.Ala750Val)DAGLA-related disorder [RCV003919424]likely benign116174360961743609Humanname , trait , alternate_id
405287623CV3217829single nucleotide variantNM_006133.3(DAGLA):c.2666C>T (p.Pro889Leu)DAGLA-related disorder [RCV003981952]benign116174402661744026Humanname , trait , alternate_id
405679569CV3236692single nucleotide variantNM_006133.3(DAGLA):c.1021A>G (p.Ile341Val)Inborn genetic diseases [RCV004370843]uncertain significance116173489561734895Human1name
405679575CV3236693single nucleotide variantNM_006133.3(DAGLA):c.1733C>G (p.Ala578Gly)Inborn genetic diseases [RCV004370844]likely benign116173954161739541Human1name
405679581CV3236694single nucleotide variantNM_006133.3(DAGLA):c.1790C>T (p.Thr597Ile)Inborn genetic diseases [RCV004370845]uncertain significance116173959861739598Human1name
405679587CV3236695single nucleotide variantNM_006133.3(DAGLA):c.2513C>T (p.Thr838Ile)Inborn genetic diseases [RCV004370846]uncertain significance116174387361743873Human1name
405679592CV3236696single nucleotide variantNM_006133.3(DAGLA):c.2631C>A (p.Asp877Glu)Inborn genetic diseases [RCV004370847]likely benign116174399161743991Human1name
405679597CV3236697single nucleotide variantNM_006133.3(DAGLA):c.2674C>T (p.Arg892Cys)Inborn genetic diseases [RCV004370848]uncertain significance116174403461744034Human1name
405679605CV3236698single nucleotide variantNM_006133.3(DAGLA):c.2804G>A (p.Cys935Tyr)Inborn genetic diseases [RCV004370849]uncertain significance116174416461744164Human1name
405679610CV3236699single nucleotide variantNM_006133.3(DAGLA):c.2809G>T (p.Val937Leu)Inborn genetic diseases [RCV004370850]uncertain significance116174416961744169Human1name
405679615CV3236700single nucleotide variantNM_006133.3(DAGLA):c.2855C>T (p.Ser952Phe)Inborn genetic diseases [RCV004370851]uncertain significance116174421561744215Human1name
405852210CV3392551single nucleotide variantNM_006133.3(DAGLA):c.2370C>G (p.Tyr790Ter)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004526296]pathogenic116174373061743730Human1name
405852211CV3392552single nucleotide variantNM_006133.3(DAGLA):c.2485G>T (p.Glu829Ter)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004526297]pathogenic116174384561743845Human1name
405852212CV3392554single nucleotide variantNM_006133.3(DAGLA):c.2440G>T (p.Glu814Ter)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004526299]pathogenic116174380061743800Human1name
407452914CV3430067single nucleotide variantNM_006133.3(DAGLA):c.1552G>T (p.Ala518Ser)Inborn genetic diseases [RCV004608735]uncertain significance116173772461737724Human1name
407452915CV3430068single nucleotide variantNM_006133.3(DAGLA):c.2701C>T (p.Arg901Cys)Inborn genetic diseases [RCV004608736]likely benign116174406161744061Human1name
407452921CV3430071single nucleotide variantNM_006133.3(DAGLA):c.2251C>T (p.Arg751Cys)Inborn genetic diseases [RCV004608739]uncertain significance116174361161743611Human1name
407452923CV3430072single nucleotide variantNM_006133.3(DAGLA):c.2861G>C (p.Ser954Thr)Inborn genetic diseases [RCV004608740]likely benign116174422161744221Human1name
407452924CV3430073single nucleotide variantNM_006133.3(DAGLA):c.1022T>C (p.Ile341Thr)Inborn genetic diseases [RCV004608741]uncertain significance116173489661734896Human1name
596945017CV3543674single nucleotide variantNM_006133.3(DAGLA):c.1454T>C (p.Leu485Pro)not provided [RCV004801796]uncertain significance116173726461737264Humanname
596938420CV3550225single nucleotide variantNM_006133.3(DAGLA):c.2161A>T (p.Ser721Cys)Benign paroxysmal tonic upgaze of childhood with ataxia [RCV004813527]uncertain significance116174133961741339Human1name
597672895CV3655160single nucleotide variantNM_006133.3(DAGLA):c.1739C>T (p.Thr580Met)Inborn genetic diseases [RCV004981558]uncertain significance116173954761739547Human1name
597672915CV3655163single nucleotide variantNM_006133.3(DAGLA):c.1576G>A (p.Val526Ile)Inborn genetic diseases [RCV004981561]uncertain significance116173774861737748Human1name
597672920CV3655164single nucleotide variantNM_006133.3(DAGLA):c.2839G>A (p.Ala947Thr)Inborn genetic diseases [RCV004981562]uncertain significance116174419961744199Human1name
597672925CV3655165single nucleotide variantNM_006133.3(DAGLA):c.1083G>C (p.Glu361Asp)Inborn genetic diseases [RCV004981563]uncertain significance116173495761734957Human1name
597672936CV3655167single nucleotide variantNM_006133.3(DAGLA):c.1087A>T (p.Met363Leu)Inborn genetic diseases [RCV004981565]uncertain significance116173496161734961Human1name
597672947CV3655169single nucleotide variantNM_006133.3(DAGLA):c.2354A>T (p.Asp785Val)Inborn genetic diseases [RCV004981567]uncertain significance116174371461743714Human1name
597672954CV3655170single nucleotide variantNM_006133.3(DAGLA):c.2939C>G (p.Ala980Gly)Inborn genetic diseases [RCV004981568]uncertain significance116174429961744299Human1name
598126470CV3881928single nucleotide variantNM_006133.3(DAGLA):c.2113A>G (p.Met705Val)not provided [RCV005233480]uncertain significance116174129161741291Humanname
598126641CV3882096single nucleotide variantNM_006133.3(DAGLA):c.1438A>G (p.Ile480Val)not provided [RCV005233647]uncertain significance116173724861737248Humanname
598124803CV3883687single nucleotide variantNM_006133.3(DAGLA):c.1193G>A (p.Arg398Gln)not provided [RCV005236041]uncertain significance116173562561735625Humanname
598233466CV3893694single nucleotide variantNM_006133.3(DAGLA):c.1655A>G (p.Lys552Arg)not provided [RCV005256427]uncertain significance116173820661738206Humanname
598251285CV3952815single nucleotide variantNM_006133.3(DAGLA):c.1336G>C (p.Glu446Gln)Inborn genetic diseases [RCV005323032]uncertain significance116173631561736315Human1name
15199118CV701830single nucleotide variantNM_006133.3(DAGLA):c.2204G>T (p.Gly735Val)DAGLA-related disorder [RCV003978304]|not provided [RCV000956950]benign116174356461743564Human1name , trait , alternate_id
15149990CV712924single nucleotide variantNM_006133.3(DAGLA):c.2962C>G (p.Leu988Val)not provided [RCV000967858]benign116174432261744322Humanname
8634241CV89459single nucleotide variantNM_006133.2(DAGLA):c.2765A>G (p.Asn922Ser)Malignant melanoma [RCV000069556]not provided116174412561744125Humanname
156268668CV2239977single nucleotide variantNM_006133.3(DAGLA):c.3011C>T (p.Thr1004Met)Inborn genetic diseases [RCV002792337]uncertain significance116174437161744371Human1name
329381866CV2441413single nucleotide variantNM_006133.3(DAGLA):c.3036A>T (p.Glu1012Asp)Inborn genetic diseases [RCV003175761]uncertain significance116174439661744396Human1name
329374000CV2447533single nucleotide variantNM_006133.3(DAGLA):c.3125G>T (p.Arg1042Leu)Inborn genetic diseases [RCV003185304]uncertain significance116174448561744485Human1name
329360019CV2462405single nucleotide variantNM_006133.3(DAGLA):c.3070C>G (p.Pro1024Ala)Inborn genetic diseases [RCV003204787]uncertain significance116174443061744430Human1name
401874581CV2781058single nucleotide variantNM_006133.3(DAGLA):c.3125G>C (p.Arg1042Pro)Inborn genetic diseases [RCV003362307]uncertain significance116174448561744485Human1name
405679623CV3236701single nucleotide variantNM_006133.3(DAGLA):c.3017C>T (p.Thr1006Met)Inborn genetic diseases [RCV004370852]uncertain significance116174437761744377Human1name
407452926CV3430074single nucleotide variantNM_006133.3(DAGLA):c.3071C>A (p.Pro1024His)Inborn genetic diseases [RCV004608742]uncertain significance116174443161744431Human1name
14979013CV678003single nucleotide variantNM_006133.3(DAGLA):c.3049G>C (p.Asp1017His)Attention deficit hyperactivity disorder [RCV000851206]uncertain significance116174440961744409Human2name
329953709CV2670436deletionNM_006133.3(DAGLA):c.2456_2457del (p.His819fs)DAGLA-related disorder [RCV003234740]uncertain significance116174381561743816Humanname , trait , alternate_id
401905070CV2831360deletionNM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)Autosomal dominant cerebellar ataxia [RCV003444169]likely pathogenic116174379461743803Human1name
401723198CV2672091indelNM_006133.3(DAGLA):c.2740_2742delinsCTCAGGTGCTG (p.Ala914fs)not provided [RCV003238992]uncertain significance116174410061744102Humanname
408370478CV3510424deletionNM_006133.3(DAGLA):c.2804_2812del (p.Cys935_Val938delinsLeu)DAGLA-related disorder [RCV004739787]uncertain significance116174416461744172Humanname , trait , alternate_id