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Variants search result for All species
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44 records found for search term Gnrh1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
28907575CV899382single nucleotide variantNM_000825.3(GNRH1):c.-984C>GHypogonadotropic hypogonadism 12 with or without anosmia [RCV001159619]uncertain significance82542432625424326Human1name
11652601CV308722deletionNM_000825.3(GNRH1):c.-1015delIsolated GnRH Deficiency [RCV000305814]uncertain significance82542435725424357Human1name
11635819CV308723duplicationNM_000825.3(GNRH1):c.-1015dupIsolated GnRH Deficiency [RCV000400073]likely benign82542435625424357Human1name
28907578CV899383single nucleotide variantNM_000825.3(GNRH1):c.-1198G>AHypogonadotropic hypogonadism 12 with or without anosmia [RCV001159620]uncertain significance82542454025424540Human1name
28909953CV899384single nucleotide variantNM_000825.3(GNRH1):c.-1316C>THypogonadotropic hypogonadism 12 with or without anosmia [RCV001161004]uncertain significance82542465825424658Human1name
28909955CV899385single nucleotide variantNM_000825.3(GNRH1):c.-1624G>AHypogonadotropic hypogonadism 12 with or without anosmia [RCV001161005]uncertain significance82542496625424966Human1name
11606828CV305012single nucleotide variantNM_001083111.2(GNRH1):c.-2+5A>CHypogonadotropic hypogonadism 12 with or without anosmia [RCV000336141]likely benign|uncertain significance82542419625424196Human1name
597872237CV3849459single nucleotide variantNM_001083111.2(GNRH1):c.-1-5C>Tnot provided [RCV005197640]uncertain significance82542333625423336Humanname
11608267CV305011single nucleotide variantNM_001083111.2(GNRH1):c.-1-29T>CIsolated GnRH Deficiency [RCV000352875]uncertain significance82542336025423360Human1name
11606179CV313851single nucleotide variantNM_001083111.2(GNRH1):c.237+8A>CHypogonadotropic hypogonadism 12 with or without anosmia [RCV000328353]|not provided [RCV003727719]likely benign|uncertain significance82542156525421565Human1name
28907573CV899381single nucleotide variantNM_001083111.2(GNRH1):c.-2+59G>THypogonadotropic hypogonadism 12 with or without anosmia [RCV001159618]uncertain significance82542414225424142Human1name
150468211CV1218883single nucleotide variantNM_001083111.2(GNRH1):c.141+40T>Gnot provided [RCV001614635]benign82542315025423150Humanname
150483509CV1245123single nucleotide variantNM_001083111.2(GNRH1):c.141+85A>Gnot provided [RCV001653300]benign82542310525423105Humanname
11611899CV308710single nucleotide variantNM_001083111.2(GNRH1):c.-2+388T>CHypogonadotropic hypogonadism 12 with or without anosmia [RCV000400342]|not provided [RCV004705465]likely benign|uncertain significance82542381325423813Human1name
11603401CV308720single nucleotide variantNM_001083111.2(GNRH1):c.-2+194C>AHypogonadotropic hypogonadism 12 with or without anosmia [RCV000299783]uncertain significance82542400725424007Human1name
11602591CV313849single nucleotide variantNM_001083111.2(GNRH1):c.238-12T>CHypogonadotropic hypogonadism 12 with or without anosmia [RCV000292033]uncertain significance82541947225419472Human1name
11658505CV313876single nucleotide variantNM_001083111.2(GNRH1):c.-1-148G>AIsolated GnRH Deficiency [RCV000349298]uncertain significance82542347925423479Human1name
11663295CV313939single nucleotide variantNM_001083111.2(GNRH1):c.-1-110A>GHypogonadotropic hypogonadism 12 with or without anosmia [RCV000394363]uncertain significance82542344125423441Human1name
11650704CV313941single nucleotide variantNM_001083111.2(GNRH1):c.-1-140G>AHypogonadotropic hypogonadism 12 with or without anosmia [RCV000294346]uncertain significance82542347125423471Human1name
150405381CV1177021single nucleotide variantNM_001083111.2(GNRH1):c.141+281A>Gnot provided [RCV001544838]likely benign82542290925422909Humanname
150420737CV1194037duplicationNM_001083111.2(GNRH1):c.238-179dupnot provided [RCV001570249]likely benign82541962525419626Humanname
150433555CV1204122single nucleotide variantNM_001083111.2(GNRH1):c.141+202A>Gnot provided [RCV001581870]likely benign82542298825422988Humanname
152068198CV1660220single nucleotide variantNM_001083111.2(GNRH1):c.63C>T (p.Cys21=)not provided [RCV002147714]likely benign82542326825423268Humanname
8570006CV29456duplicationNM_001083111.2(GNRH1):c.18dup (p.Leu7fs)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000030900]pathogenic82542331225423313Human1name
597926880CV3783376single nucleotide variantNM_001083111.2(GNRH1):c.60C>T (p.Gly20=)not provided [RCV005116063]likely benign82542327125423271Humanname
151712474CV1374712duplicationNM_001083111.2(GNRH1):c.60dup (p.Cys21fs)not provided [RCV001908290]pathogenic82542327025423271Humanname
9589637CV166359deletionNM_001083111.2(GNRH1):c.87del (p.Leu30fs)not provided [RCV000144705]uncertain significance|not provided82542324425423244Humanname
11610544CV313858single nucleotide variantNM_001083111.2(GNRH1):c.177A>G (p.Gln59=)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000382951]|not provided [RCV000910936]likely benign|uncertain significance82542163325421633Human1name
15164265CV711467single nucleotide variantNM_001083111.2(GNRH1):c.183C>T (p.Phe61=)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001164541]|not provided [RCV000970679]benign82542162725421627Human1name
28872734CV899380single nucleotide variantNM_001083111.2(GNRH1):c.210T>A (p.Ser70=)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001164540]uncertain significance82542160025421600Human1name
151869329CV1438837single nucleotide variantNM_001083111.2(GNRH1):c.92G>A (p.Arg31His)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV003989137]|not provided [RCV002035456]pathogenic|likely pathogenic82542323925423239Human1name
156009373CV2051321single nucleotide variantNM_001083111.2(GNRH1):c.73C>G (p.His25Asp)not provided [RCV002820040]uncertain significance82542325825423258Humanname
405240906CV2905055single nucleotide variantNM_001083111.2(GNRH1):c.91C>T (p.Arg31Cys)Hypogonadotropic hypogonadism [RCV005416045]|not provided [RCV003557387]pathogenic|uncertain significance82542324025423240Human3name
405240911CV2905056single nucleotide variantNM_001083111.2(GNRH1):c.52G>A (p.Val18Met)not provided [RCV003557388]uncertain significance82542327925423279Humanname
405176692CV2951989single nucleotide variantNM_001083111.2(GNRH1):c.86G>A (p.Gly29Glu)not provided [RCV003675892]uncertain significance82542324525423245Humanname
11602158CV313859single nucleotide variantNM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV000288329]|not provided [RCV000711848]benign|likely benign82542328425423284Human5name
597788554CV3678328single nucleotide variantNM_001083111.2(GNRH1):c.49T>C (p.Cys17Arg)not specified [RCV004932772]uncertain significance82542328225423282Humanname
151733251CV1336521single nucleotide variantNM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg)Amenorrhea [RCV001849750]|not provided [RCV005095331]uncertain significance82542166725421667Human2name
151767557CV1407851single nucleotide variantNM_001083111.2(GNRH1):c.178C>T (p.Arg60Cys)not provided [RCV001914658]uncertain significance82542163225421632Humanname
151814555CV1452853single nucleotide variantNM_001083111.2(GNRH1):c.270G>T (p.Lys90Asn)not provided [RCV001900283]conflicting interpretations of pathogenicity|uncertain significance82541942825419428Humanname
156022065CV2141367single nucleotide variantNM_001083111.2(GNRH1):c.194C>T (p.Thr65Met)not provided [RCV002976202]uncertain significance82542161625421616Humanname
598232837CV3974431single nucleotide variantNM_001083111.2(GNRH1):c.143T>C (p.Ile48Thr)not specified [RCV005342663]uncertain significance82542166725421667Humanname
15185969CV700536single nucleotide variantNM_001083111.2(GNRH1):c.238G>C (p.Glu80Gln)not provided [RCV000953141]benign82541946025419460Humanname
15192101CV736598single nucleotide variantNM_001083111.2(GNRH1):c.141G>C (p.Glu47Asp)Hypogonadotropic hypogonadism 12 with or without anosmia [RCV001164542]|not provided [RCV000910439]benign|likely benign|uncertain significance82542319025423190Human1name