Send us a Message



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


38 records found for search term Clec7a
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
12896462CV390101single nucleotide variantNM_197947.3(CLEC7A):c.*2A>Gnot provided [RCV004707272]|not specified [RCV000455374]benign121011845610118456Humanname
126734899CV1020961single nucleotide variantNM_197947.3(CLEC7A):c.493-2A>GFamilial chronic mucocutaneous candidiasis [RCV001334729]pathogenic121012336510123365Humanname
405258062CV3208138single nucleotide variantNM_197947.3(CLEC7A):c.340+9A>GCLEC7A-related disorder [RCV003941582]likely benign121012656210126562Humanname , trait , alternate_id
405269131CV3199128single nucleotide variantNM_197947.3(CLEC7A):c.493-10T>CCLEC7A-related disorder [RCV003912231]likely benign121012337310123373Humanname , trait , alternate_id
597791264CV3656619single nucleotide variantNM_197947.3(CLEC7A):c.25A>C (p.Asn9His)not specified [RCV004902266]uncertain significance121013005810130058Humanname
15128984CV753039single nucleotide variantNM_197947.3(CLEC7A):c.189C>T (p.Val63=)not provided [RCV000919748]likely benign121012776010127760Humanname
407462632CV3419466single nucleotide variantNM_197947.3(CLEC7A):c.672C>T (p.His224=)not specified [RCV004613001]likely benign121011853010118530Humanname
14399122CV614368single nucleotide variantNM_197947.3(CLEC7A):c.414A>G (p.Leu138=)Familial chronic mucocutaneous candidiasis [RCV000768185]|Familial chronic mucocutaneous candidiasis [RCV003224435]uncertain significance121012537510125375Human1name
15169332CV713273single nucleotide variantNM_197947.3(CLEC7A):c.397C>T (p.Leu133=)Familial chronic mucocutaneous candidiasis [RCV002503078]|not provided [RCV000971790]benign|likely benign121012539210125392Human1name
156049712CV2336539single nucleotide variantNM_197947.3(CLEC7A):c.131G>A (p.Arg44His)not specified [RCV004194745]uncertain significance121012781810127818Humanname
156006839CV2394257single nucleotide variantNM_197947.3(CLEC7A):c.244G>A (p.Gly82Ser)not specified [RCV004238490]uncertain significance121012666710126667Humanname
329363581CV2442322single nucleotide variantNM_197947.3(CLEC7A):c.268G>A (p.Glu90Lys)not specified [RCV004264795]uncertain significance121012664310126643Humanname
401730118CV2683958single nucleotide variantNM_197947.3(CLEC7A):c.130C>T (p.Arg44Cys)not specified [RCV004286506]uncertain significance121012781910127819Humanname
401868323CV2767203single nucleotide variantNM_197947.3(CLEC7A):c.122C>T (p.Pro41Leu)not specified [RCV004349382]uncertain significance121012782710127827Humanname
405781545CV3305530single nucleotide variantNM_197947.3(CLEC7A):c.121C>G (p.Pro41Ala)not specified [RCV004437042]uncertain significance121012782810127828Humanname
407462635CV3419467single nucleotide variantNM_197947.3(CLEC7A):c.296C>T (p.Ser99Phe)not specified [RCV004613002]uncertain significance121012661510126615Humanname
597791258CV3656617single nucleotide variantNM_197947.3(CLEC7A):c.259A>G (p.Arg87Gly)not specified [RCV004902264]uncertain significance121012665210126652Humanname
597791267CV3656620single nucleotide variantNM_197947.3(CLEC7A):c.284C>T (p.Pro95Leu)not specified [RCV004902267]uncertain significance121012662710126627Humanname
597791275CV3656622single nucleotide variantNM_197947.3(CLEC7A):c.121C>A (p.Pro41Thr)not specified [RCV004902269]uncertain significance121012782810127828Humanname
597791278CV3656623single nucleotide variantNM_197947.3(CLEC7A):c.251T>G (p.Phe84Cys)not specified [RCV004902270]uncertain significance121012666010126660Humanname
598243545CV3944633single nucleotide variantNM_197947.3(CLEC7A):c.200T>C (p.Met67Thr)not specified [RCV005321928]uncertain significance121012774910127749Humanname
126742290CV1017546single nucleotide variantNM_197947.3(CLEC7A):c.536T>C (p.Phe179Ser)Familial chronic mucocutaneous candidiasis [RCV001329912]uncertain significance121012332010123320Human1name
8558104CV19505single nucleotide variantNM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)Aspergillosis, susceptibility to [RCV000023528]|CLEC7A-related disorder [RCV003974796]|Familial chronic mucocutaneous candidiasis [RCV000004721]|Familial chronic mucocutaneous candidiasis [RCV002504746]|not provided [RCV004706445]|not specified [RCV000455914]pathogenic|risk factor|benign|likely benign121011848810118488Human5name , trait , alternate_id
8558104CV19505single nucleotide variantNM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)Aspergillosis, susceptibility to [RCV000023528]|CLEC7A-related disorder [RCV003974796]|Familial chronic mucocutaneous candidiasis [RCV000004721]|Familial chronic mucocutaneous candidiasis [RCV002504746]|not provided [RCV004706445]|not specified [RCV000455914]pathogenic|risk factor|benign|likely benign121011848810118489Human5name , trait , alternate_id
156240547CV2203770single nucleotide variantNM_197947.3(CLEC7A):c.530A>C (p.Asn177Thr)not specified [RCV004074413]uncertain significance121012332610123326Humanname
155952173CV2238914single nucleotide variantNM_197947.3(CLEC7A):c.704T>C (p.Val235Ala)not specified [RCV004109818]uncertain significance121011849810118498Humanname
155950771CV2267906single nucleotide variantNM_197947.3(CLEC7A):c.304G>C (p.Asp102His)not specified [RCV004136199]uncertain significance121012660710126607Humanname
156150880CV2377512single nucleotide variantNM_197947.3(CLEC7A):c.385A>G (p.Lys129Glu)not specified [RCV004225673]uncertain significance121012540410125404Humanname
156153834CV2395019single nucleotide variantNM_197947.3(CLEC7A):c.673G>A (p.Val225Met)not specified [RCV004236710]uncertain significance121011852910118529Humanname
155926805CV2395843single nucleotide variantNM_197947.3(CLEC7A):c.407T>G (p.Met136Arg)not specified [RCV004235360]uncertain significance121012538210125382Humanname
407462637CV3419468single nucleotide variantNM_197947.3(CLEC7A):c.554G>A (p.Arg185Gln)not specified [RCV004613003]uncertain significance121012330210123302Humanname
407462640CV3419469single nucleotide variantNM_197947.3(CLEC7A):c.522A>C (p.Gln174His)not specified [RCV004613004]uncertain significance121012333410123334Humanname
12849099CV363686single nucleotide variantNM_197947.3(CLEC7A):c.482C>T (p.Ser161Leu)not provided [RCV000424017]benign121012530710125307Humanname
597791261CV3656618single nucleotide variantNM_197947.3(CLEC7A):c.343G>A (p.Val115Ile)not specified [RCV004902265]uncertain significance121012544610125446Humanname
15099178CV724826single nucleotide variantNM_197947.3(CLEC7A):c.739A>T (p.Met247Leu)CLEC7A-related disorder [RCV003968136]|not provided [RCV000891897]likely benign121011846310118463Human2name , trait , alternate_id
15108928CV724827single nucleotide variantNM_197947.3(CLEC7A):c.668T>G (p.Ile223Ser)not provided [RCV000893765]benign121011853410118534Humanname
15197705CV724828single nucleotide variantNM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe)not provided [RCV000890139]benign|likely benign121012330910123309Human1name
15197705CV724828single nucleotide variantNM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe)not provided [RCV000890139]benign|likely benign121012330910123310Human1name