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


74 records found for search term Gnb1l
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405286267CV3192062single nucleotide variantNM_053004.3(GNB1L):c.517-5C>TGNB1L-related disorder [RCV003923986]likely benign221980222119802221Humanname , trait , alternate_id
401920317CV2821935single nucleotide variantNM_053004.3(GNB1L):c.-21+2449C>Tnot provided [RCV003431630]benign221985199419851994Humanname
405275560CV3199375single nucleotide variantNM_053004.3(GNB1L):c.5C>T (p.Thr2Met)GNB1L-related disorder [RCV003916788]benign221982135119821351Humanname , trait , alternate_id
13521211CV495769deletionNM_053004.3(GNB1L):c.12del (p.Cys5fs)not provided [RCV000599274]uncertain significance221982134419821344Humanname
15173958CV705789single nucleotide variantNM_053004.3(GNB1L):c.66G>A (p.Pro22=)not provided [RCV000950295]benign221982129019821290Humanname
405768245CV3262076single nucleotide variantNM_053004.3(GNB1L):c.13T>C (p.Cys5Arg)not specified [RCV004395466]uncertain significance221982134319821343Humanname
15189806CV742759single nucleotide variantNM_053004.3(GNB1L):c.201C>T (p.Gly67=)not provided [RCV000909761]likely benign221982065119820651Humanname
155986897CV2363737single nucleotide variantNM_053004.3(GNB1L):c.50G>A (p.Arg17Gln)not specified [RCV004218725]uncertain significance221982130619821306Humanname
405274483CV3208792single nucleotide variantNM_053004.3(GNB1L):c.930C>T (p.Ala310=)GNB1L-related disorder [RCV003951598]likely benign221978876319788763Humanname , trait , alternate_id
405288947CV3210004single nucleotide variantNM_053004.3(GNB1L):c.912C>T (p.Thr304=)GNB1L-related disorder [RCV003961483]likely benign221978878119788781Humanname , trait , alternate_id
405282563CV3212937single nucleotide variantNM_053004.3(GNB1L):c.933G>A (p.Ala311=)GNB1L-related disorder [RCV003957053]likely benign221978876019788760Humanname , trait , alternate_id
598264130CV3974365single nucleotide variantNM_053004.3(GNB1L):c.495C>T (p.Pro165=)not specified [RCV005348778]likely benign221980668019806680Humanname
13445778CV438222single nucleotide variantNM_053004.3(GNB1L):c.53G>T (p.Gly18Val)not provided [RCV000512848]|not specified [RCV004023466]uncertain significance221982130319821303Humanname
15163540CV705788single nucleotide variantNM_053004.3(GNB1L):c.88G>A (p.Glu30Lys)GNB1L-related disorder [RCV003913240]|not provided [RCV000948111]benign221982126819821268Humanname , trait , alternate_id
15148605CV717310single nucleotide variantNM_053004.3(GNB1L):c.366C>G (p.Ala122=)not provided [RCV000967580]benign221981233619812336Humanname
15187272CV729025single nucleotide variantNM_053004.3(GNB1L):c.834C>T (p.Arg278=)GNB1L-related disorder [RCV003968065]|not provided [RCV000887210]benign221978885919788859Humanname , trait , alternate_id
15166732CV729026single nucleotide variantNM_053004.3(GNB1L):c.810C>T (p.Thr270=)GNB1L-related disorder [RCV003920578]|not provided [RCV000882694]benign221978888319788883Humanname , trait , alternate_id
15188786CV729027single nucleotide variantNM_053004.3(GNB1L):c.74C>T (p.Ala25Val)not provided [RCV000887639]likely benign221982128219821282Humanname
15184211CV742758single nucleotide variantNM_053004.3(GNB1L):c.369G>C (p.Gly123=)not provided [RCV000908228]benign221981233319812333Humanname
15145662CV757954single nucleotide variantNM_053004.3(GNB1L):c.768C>T (p.Ile256=)not provided [RCV000922582]likely benign221978892519788925Humanname
15115078CV757955single nucleotide variantNM_053004.3(GNB1L):c.468G>A (p.Pro156=)not provided [RCV000917393]likely benign221980670719806707Humanname
156073528CV2251567single nucleotide variantNM_053004.3(GNB1L):c.293C>T (p.Ala98Val)not specified [RCV004117521]uncertain significance221981240919812409Humanname
156292951CV2296885single nucleotide variantNM_053004.3(GNB1L):c.236A>T (p.Gln79Leu)not specified [RCV004148759]uncertain significance221982061619820616Humanname
155941546CV2300868single nucleotide variantNM_053004.3(GNB1L):c.238G>A (p.Gly80Arg)not specified [RCV004158071]uncertain significance221982061419820614Humanname
156058367CV2383404single nucleotide variantNM_053004.3(GNB1L):c.148C>T (p.His50Tyr)not specified [RCV004222428]uncertain significance221982070419820704Humanname
155957036CV2387405single nucleotide variantNM_053004.3(GNB1L):c.176C>T (p.Ala59Val)not specified [RCV004240274]uncertain significance221982067619820676Humanname
401884204CV2782379single nucleotide variantNM_053004.3(GNB1L):c.113C>T (p.Pro38Leu)not specified [RCV004365120]uncertain significance221982124319821243Humanname
401907365CV2800204single nucleotide variantNM_053004.3(GNB1L):c.226A>T (p.Thr76Ser)GNB1L-related disorder [RCV003397339]uncertain significance221982062619820626Humanname , trait , alternate_id
405276558CV3193456single nucleotide variantNM_053004.3(GNB1L):c.110G>A (p.Arg37His)GNB1L-related disorder [RCV003974624]benign221982124619821246Humanname , trait , alternate_id
405256111CV3208675single nucleotide variantNM_053004.3(GNB1L):c.208T>C (p.Cys70Arg)GNB1L-related disorder [RCV003939736]benign221982064419820644Humanname , trait , alternate_id
405768249CV3262077single nucleotide variantNM_053004.3(GNB1L):c.182C>T (p.Thr61Ile)not specified [RCV004395467]uncertain significance221982067019820670Humanname
405768254CV3262078single nucleotide variantNM_053004.3(GNB1L):c.290T>C (p.Leu97Pro)not specified [RCV004395468]uncertain significance221981241219812412Humanname
12842813CV378584single nucleotide variantNM_053004.3(GNB1L):c.170G>A (p.Arg57Gln)GNB1L-related disorder [RCV003902500]|not specified [RCV000435096]likely benign221982068219820682Humanname , trait , alternate_id
598232736CV3974366single nucleotide variantNM_053004.3(GNB1L):c.105G>C (p.Gln35His)not specified [RCV005342646]uncertain significance221982125119821251Humanname
156189164CV2258472single nucleotide variantNM_053004.3(GNB1L):c.944A>G (p.Asp315Gly)not specified [RCV004115661]uncertain significance221978874919788749Humanname
156087928CV2259015single nucleotide variantNM_053004.3(GNB1L):c.536C>T (p.Pro179Leu)not specified [RCV004120281]uncertain significance221980219719802197Humanname
155945907CV2265908single nucleotide variantNM_053004.3(GNB1L):c.608G>C (p.Arg203Pro)not specified [RCV004126761]uncertain significance221980212519802125Humanname
156337988CV2271208single nucleotide variantNM_053004.3(GNB1L):c.613G>A (p.Ala205Thr)not specified [RCV004134569]uncertain significance221980212019802120Humanname
155940878CV2294154single nucleotide variantNM_053004.3(GNB1L):c.520G>T (p.Asp174Tyr)not specified [RCV004149521]uncertain significance221980221319802213Humanname
156286166CV2327211single nucleotide variantNM_053004.3(GNB1L):c.517G>A (p.Ala173Thr)not specified [RCV004174672]uncertain significance221980221619802216Humanname
155972064CV2335747single nucleotide variantNM_053004.3(GNB1L):c.550G>A (p.Gly184Ser)not specified [RCV004193945]uncertain significance221980218319802183Humanname
155977952CV2339875single nucleotide variantNM_053004.3(GNB1L):c.533G>A (p.Arg178His)not specified [RCV004189981]uncertain significance221980220019802200Humanname
156392474CV2386364single nucleotide variantNM_053004.3(GNB1L):c.497T>C (p.Met166Thr)not specified [RCV004228699]uncertain significance221980667819806678Humanname
329365811CV2441028single nucleotide variantNM_053004.3(GNB1L):c.338T>C (p.Val113Ala)not specified [RCV004261399]uncertain significance221981236419812364Humanname
329400367CV2441576single nucleotide variantNM_053004.3(GNB1L):c.868G>T (p.Val290Leu)not specified [RCV004259406]uncertain significance221978882519788825Humanname
329352899CV2470620single nucleotide variantNM_053004.3(GNB1L):c.583G>A (p.Val195Ile)not specified [RCV004273614]uncertain significance221980215019802150Humanname
401780697CV2685657single nucleotide variantNM_053004.3(GNB1L):c.950G>A (p.Arg317Gln)not specified [RCV004294664]uncertain significance221978874319788743Humanname
401725803CV2687272single nucleotide variantNM_053004.3(GNB1L):c.794G>A (p.Arg265His)not specified [RCV004298210]uncertain significance221978889919788899Humanname
401749378CV2706677single nucleotide variantNM_053004.3(GNB1L):c.779C>T (p.Thr260Met)not specified [RCV004319251]uncertain significance221978891419788914Humanname
405290942CV3197197single nucleotide variantNM_053004.3(GNB1L):c.715T>G (p.Trp239Gly)GNB1L-related disorder [RCV003984760]benign221980201819802018Humanname , trait , alternate_id
405287607CV3210706single nucleotide variantNM_053004.3(GNB1L):c.851C>T (p.Thr284Met)GNB1L-related disorder [RCV003924466]benign221978884219788842Humanname , trait , alternate_id
405768260CV3262079single nucleotide variantNM_053004.3(GNB1L):c.457G>A (p.Ala153Thr)not specified [RCV004395469]likely benign221980671819806718Humanname
405768272CV3262081single nucleotide variantNM_053004.3(GNB1L):c.506G>A (p.Arg169Gln)not specified [RCV004395471]uncertain significance221980666919806669Humanname
405768276CV3262082single nucleotide variantNM_053004.3(GNB1L):c.559G>T (p.Asp187Tyr)not specified [RCV004395472]uncertain significance221980217419802174Humanname
405768286CV3262084single nucleotide variantNM_053004.3(GNB1L):c.826C>T (p.Arg276Cys)not specified [RCV004395474]uncertain significance221978886719788867Humanname
405768292CV3262085single nucleotide variantNM_053004.3(GNB1L):c.916G>C (p.Asp306His)not specified [RCV004395475]uncertain significance221978877719788777Humanname
405768296CV3262086single nucleotide variantNM_053004.3(GNB1L):c.977G>A (p.Arg326His)not specified [RCV004395476]uncertain significance221978871619788716Humanname
407520003CV3443574single nucleotide variantNM_053004.3(GNB1L):c.737G>A (p.Arg246His)not specified [RCV004629886]uncertain significance221978895619788956Humanname
407504014CV3443575single nucleotide variantNM_053004.3(GNB1L):c.920G>A (p.Gly307Asp)not specified [RCV004623929]uncertain significance221978877319788773Humanname
407520007CV3443576single nucleotide variantNM_053004.3(GNB1L):c.349C>T (p.Arg117Trp)not specified [RCV004629887]uncertain significance221981235319812353Humanname
597730386CV3678220single nucleotide variantNM_053004.3(GNB1L):c.811G>A (p.Ala271Thr)not specified [RCV004919817]uncertain significance221978888219788882Humanname
597730396CV3678221single nucleotide variantNM_053004.3(GNB1L):c.835G>A (p.Val279Met)not specified [RCV004919818]uncertain significance221978885819788858Humanname
597730406CV3678223single nucleotide variantNM_053004.3(GNB1L):c.380G>A (p.Arg127His)not specified [RCV004919819]uncertain significance221981232219812322Humanname
597730418CV3678224single nucleotide variantNM_053004.3(GNB1L):c.689A>G (p.Lys230Arg)not specified [RCV004919820]uncertain significance221980204419802044Humanname
597788432CV3678225single nucleotide variantNM_053004.3(GNB1L):c.631G>A (p.Val211Ile)not specified [RCV004932740]uncertain significance221980210219802102Humanname
597788436CV3678226single nucleotide variantNM_053004.3(GNB1L):c.668G>A (p.Gly223Asp)not specified [RCV004932741]uncertain significance221980206519802065Humanname
597788440CV3678227single nucleotide variantNM_053004.3(GNB1L):c.653C>T (p.Ser218Phe)not specified [RCV004932742]uncertain significance221980208019802080Humanname
597788444CV3678228single nucleotide variantNM_053004.3(GNB1L):c.973C>G (p.Pro325Ala)not specified [RCV004932743]uncertain significance221978872019788720Humanname
597788449CV3678229single nucleotide variantNM_053004.3(GNB1L):c.728T>A (p.Leu243Gln)not specified [RCV004932744]uncertain significance221980200519802005Humanname
597788662CV3678230single nucleotide variantNM_053004.3(GNB1L):c.326G>A (p.Cys109Tyr)not specified [RCV004932745]uncertain significance221981237619812376Humanname
597730428CV3678231single nucleotide variantNM_053004.3(GNB1L):c.598G>T (p.Val200Leu)not specified [RCV004919821]uncertain significance221980213519802135Humanname
12836866CV377377single nucleotide variantNM_053004.3(GNB1L):c.836T>C (p.Val279Ala)not specified [RCV000424170]likely benign|conflicting interpretations of pathogenicity221978885719788857Humanname
598232729CV3974364single nucleotide variantNM_053004.3(GNB1L):c.949C>T (p.Arg317Trp)not specified [RCV005342645]uncertain significance221978874419788744Humanname
13798368CV551339single nucleotide variantNM_053004.3(GNB1L):c.763G>A (p.Gly255Arg)not provided [RCV000678290]uncertain significance221978893019788930Humanname