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


83 records found for search term Dcn
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11602559CV318698single nucleotide variantNM_001920.5(DCN):c.*51A>GCongenital stromal corneal dystrophy [RCV000292070]|not provided [RCV004707048]benign129114600791146007Human2name
28871770CV870554single nucleotide variantNM_001920.5(DCN):c.*80C>TCongenital stromal corneal dystrophy [RCV001114243]uncertain significance129114597891145978Human1name
11659000CV318693single nucleotide variantNM_001920.5(DCN):c.*443T>GCongenital stromal corneal dystrophy [RCV000353941]uncertain significance129114561591145615Human1name
11599644CV318694single nucleotide variantNM_001920.5(DCN):c.*160C>TCongenital stromal corneal dystrophy [RCV000267456]|not provided [RCV004707047]benign129114589891145898Human1name
11604133CV318703single nucleotide variantNM_001920.5(DCN):c.-187A>GCongenital stromal corneal dystrophy [RCV000306630]uncertain significance129118280891182808Human1name
11656132CV318707single nucleotide variantNM_001920.4(DCN):c.-307A>GCongenital stromal corneal dystrophy [RCV000331251]uncertain significance129118292891182928Human1name
11610736CV318708single nucleotide variantNM_001920.4(DCN):c.-325A>GCongenital stromal corneal dystrophy [RCV000385796]likely benign129118294691182946Human1name
11612647CV326991single nucleotide variantNM_001920.5(DCN):c.*377T>CCongenital stromal corneal dystrophy [RCV000261456]benign|likely benign129114568191145681Human1name
11659864CV326994single nucleotide variantNM_001920.5(DCN):c.*220G>CCongenital stromal corneal dystrophy [RCV000362094]uncertain significance129114583891145838Human1name
11622898CV327029single nucleotide variantNM_001920.4(DCN):c.-249A>GCongenital stromal corneal dystrophy [RCV000365929]likely benign129118287091182870Human1name
11613760CV327035single nucleotide variantNM_001920.4(DCN):c.-296C>TCongenital stromal corneal dystrophy [RCV000271450]likely benign129118291791182917Human1name
11619565CV333108single nucleotide variantNM_001920.5(DCN):c.*148T>GCongenital stromal corneal dystrophy [RCV000327162]likely benign|uncertain significance129114591091145910Human1name
11613627CV333113single nucleotide variantNM_001920.5(DCN):c.-180A>TCongenital stromal corneal dystrophy [RCV000270165]uncertain significance129118280191182801Human1name
11655174CV334826single nucleotide variantNM_001920.5(DCN):c.*289A>TCongenital stromal corneal dystrophy [RCV000323638]uncertain significance129114576991145769Human1name
11624082CV334854single nucleotide variantNM_001920.5(DCN):c.*105G>ACongenital stromal corneal dystrophy [RCV000381737]benign|likely benign129114595391145953Human1name
28911626CV870550single nucleotide variantNM_001920.5(DCN):c.*566T>ACongenital stromal corneal dystrophy [RCV001110884]uncertain significance129114549291145492Human1name
28869006CV870551single nucleotide variantNM_001920.5(DCN):c.*354A>GCongenital stromal corneal dystrophy [RCV001112882]uncertain significance129114570491145704Human1name
28869010CV870552single nucleotide variantNM_001920.5(DCN):c.*351T>CCongenital stromal corneal dystrophy [RCV001112883]uncertain significance129114570791145707Human1name
28869013CV870553single nucleotide variantNM_001920.5(DCN):c.*341A>GCongenital stromal corneal dystrophy [RCV001112884]uncertain significance129114571791145717Human1name
11625096CV327027single nucleotide variantNM_001920.5(DCN):c.212-6T>CCongenital stromal corneal dystrophy [RCV000394942]|DCN-related disorder [RCV003957612]|not provided [RCV002522258]benign|likely benign129116472391164723Human1name , trait , alternate_id
597850725CV3746935single nucleotide variantNM_001920.5(DCN):c.211+9G>Tnot provided [RCV005060563]likely benign129117833391178333Humanname
405103028CV3119585deletionNM_001920.5(DCN):c.324+19delnot provided [RCV003811847]benign129116458691164586Humanname
11608839CV318702single nucleotide variantNM_001920.5(DCN):c.33A>G (p.Ala11=)Congenital stromal corneal dystrophy [RCV000360157]|not provided [RCV000957290]benign|likely benign129117852091178520Human1name
11617555CV327028single nucleotide variantNM_001920.5(DCN):c.54G>A (p.Pro18=)Congenital stromal corneal dystrophy [RCV000305864]|not provided [RCV002520843]benign|likely benign129117849991178499Human1name
156330927CV2210727single nucleotide variantNM_001920.5(DCN):c.10A>G (p.Thr4Ala)Inborn genetic diseases [RCV002673303]uncertain significance129117854391178543Human1name
11620790CV327024single nucleotide variantNM_001920.5(DCN):c.282C>T (p.Thr94=)Congenital stromal corneal dystrophy [RCV000340881]|not provided [RCV000965906]benign129116464791164647Human1name
28911671CV870560single nucleotide variantNM_001920.5(DCN):c.210G>A (p.Leu70=)Congenital stromal corneal dystrophy [RCV001110969]uncertain significance129117834391178343Human1name
156392795CV2123637single nucleotide variantNM_001920.5(DCN):c.798C>G (p.Ala266=)not provided [RCV002944085]likely benign129115174191151741Humanname
156154288CV2395073single nucleotide variantNM_001920.5(DCN):c.92A>G (p.Asp31Gly)Inborn genetic diseases [RCV002764309]uncertain significance129117846191178461Human1name
11624530CV327004single nucleotide variantNM_001920.5(DCN):c.975G>A (p.Ser325=)Congenital stromal corneal dystrophy [RCV000387412]benign|likely benign129114616391146163Human1name
11625935CV334859single nucleotide variantNM_001920.5(DCN):c.879C>T (p.Tyr293=)Congenital stromal corneal dystrophy [RCV000405011]likely benign129115166091151660Human1name
15173292CV738897single nucleotide variantNM_001920.5(DCN):c.703A>C (p.Arg235=)Congenital stromal corneal dystrophy [RCV001110218]|not provided [RCV000905834]benign129115313991153139Human1name
28911242CV870559single nucleotide variantNM_001920.5(DCN):c.555G>T (p.Pro185=)Congenital stromal corneal dystrophy [RCV001110222]likely benign129115717291157172Human1name
8591256CV131908deletionNM_001920.5(DCN):c.962del (p.Lys321fs)Congenital stromal corneal dystrophy [RCV000114315]pathogenic129114617691146176Human1name
156177024CV2220318single nucleotide variantNM_001920.5(DCN):c.130C>G (p.Arg44Gly)Inborn genetic diseases [RCV002742049]uncertain significance129117842391178423Human1name
156008366CV2299861single nucleotide variantNM_001920.5(DCN):c.233A>T (p.Asp78Val)Inborn genetic diseases [RCV002883871]uncertain significance129116469691164696Human1name
8600362CV31909deletionNM_001920.5(DCN):c.967del (p.Ser323fs)Congenital stromal corneal dystrophy [RCV000018366]pathogenic129114617191146171Human1name
405291795CV3221117single nucleotide variantNM_001920.5(DCN):c.1050C>A (p.Arg350=)DCN-related disorder [RCV003964220]likely benign129114608891146088Humanname , trait , alternate_id
405691391CV3243300single nucleotide variantNM_001920.5(DCN):c.142C>A (p.Pro48Thr)Inborn genetic diseases [RCV004373382]uncertain significance129117841191178411Human1name
8601077CV34154deletionNM_001920.5(DCN):c.941del (p.Pro314fs)Congenital stromal corneal dystrophy [RCV000020465]pathogenic129114619791146197Human1name
597673470CV3652164single nucleotide variantNM_001920.5(DCN):c.121C>T (p.Pro41Ser)Inborn genetic diseases [RCV004981657]uncertain significance129117843291178432Human1name
597948150CV3800886single nucleotide variantNM_001920.5(DCN):c.1065C>T (p.Leu355=)not provided [RCV005135286]benign129114607391146073Humanname
8621820CV76571deletionNM_001920.5(DCN):c.947del (p.Gly316fs)Congenital stromal corneal dystrophy [RCV000055876]pathogenic129114619191146191Human1name
28911672CV870561single nucleotide variantNM_001920.5(DCN):c.127G>A (p.Asp43Asn)Congenital stromal corneal dystrophy [RCV001110970]uncertain significance129117842691178426Human1name
156149070CV2154324single nucleotide variantNM_001920.5(DCN):c.856G>A (p.Gly286Ser)not provided [RCV003022788]uncertain significance129115168391151683Humanname
155977700CV2214894single nucleotide variantNM_001920.5(DCN):c.697A>G (p.Ile233Val)Inborn genetic diseases [RCV002688071]uncertain significance129115314591153145Human1name
329373741CV2452638single nucleotide variantNM_001920.5(DCN):c.638C>T (p.Thr213Ile)Inborn genetic diseases [RCV003210582]uncertain significance129115708991157089Human1name
329389110CV2467159single nucleotide variantNM_001920.5(DCN):c.437A>G (p.Glu146Gly)Inborn genetic diseases [RCV003216137]uncertain significance129115839791158397Human1name
401759842CV2701747single nucleotide variantNM_001920.5(DCN):c.941C>T (p.Pro314Leu)Inborn genetic diseases [RCV003257008]uncertain significance129114619791146197Human1name
401895905CV2772309single nucleotide variantNM_001920.5(DCN):c.554C>T (p.Pro185Leu)Inborn genetic diseases [RCV003373532]uncertain significance129115717391157173Human1name
401888243CV2788187single nucleotide variantNM_001920.5(DCN):c.658C>T (p.Pro220Ser)Inborn genetic diseases [RCV003367628]uncertain significance129115318491153184Human1name
405167030CV3069683single nucleotide variantNM_001920.5(DCN):c.959A>G (p.Lys320Arg)Inborn genetic diseases [RCV004374245]|not provided [RCV003727528]uncertain significance129114617991146179Human1name
11611555CV318701single nucleotide variantNM_001920.5(DCN):c.529A>T (p.Ile177Phe)Congenital stromal corneal dystrophy [RCV000396540]benign|likely benign129115830591158305Human1name
405691397CV3243301single nucleotide variantNM_001920.5(DCN):c.878A>G (p.Tyr293Cys)Inborn genetic diseases [RCV004373383]uncertain significance129115166191151661Human1name
11621805CV327006single nucleotide variantNM_001920.5(DCN):c.917T>C (p.Val306Ala)Congenital stromal corneal dystrophy [RCV000352672]|not provided [RCV000957100]benign|likely benign129114622191146221Human1name
11620275CV327008single nucleotide variantNM_001920.5(DCN):c.621T>G (p.Ile207Met)Congenital stromal corneal dystrophy [RCV000335101]likely benign|conflicting interpretations of pathogenicity|uncertain significance129115710691157106Human1name
11617028CV333109single nucleotide variantNM_001920.5(DCN):c.424A>G (p.Lys142Glu)Congenital stromal corneal dystrophy [RCV000300052]|DCN-related disorder [RCV003910151]|not provided [RCV000948899]benign129115841091158410Human1name , trait , alternate_id
11616243CV334856single nucleotide variantNM_001920.5(DCN):c.944C>A (p.Pro315His)Congenital stromal corneal dystrophy [RCV000293139]likely benign|uncertain significance129114619491146194Human1name
11614783CV334860single nucleotide variantNM_001920.5(DCN):c.803C>T (p.Thr268Met)Congenital stromal corneal dystrophy [RCV000280004]|not provided [RCV000965905]benign129115173691151736Human1name
407458179CV3430339single nucleotide variantNM_001920.5(DCN):c.512A>G (p.Asn171Ser)Inborn genetic diseases [RCV004611440]uncertain significance129115832291158322Human1name
407458182CV3430340single nucleotide variantNM_001920.5(DCN):c.385G>A (p.Val129Met)Inborn genetic diseases [RCV004611441]uncertain significance129115844991158449Human1name
407458184CV3430341single nucleotide variantNM_001920.5(DCN):c.510C>G (p.Phe170Leu)Inborn genetic diseases [RCV004611442]uncertain significance129115832491158324Human1name
407458186CV3430342single nucleotide variantNM_001920.5(DCN):c.865G>A (p.Ala289Thr)Inborn genetic diseases [RCV004611443]uncertain significance129115167491151674Human1name
597673464CV3652163single nucleotide variantNM_001920.5(DCN):c.895C>T (p.Leu299Phe)Inborn genetic diseases [RCV004981656]uncertain significance129114624391146243Human1name
597673476CV3652165single nucleotide variantNM_001920.5(DCN):c.719G>C (p.Ser240Thr)Inborn genetic diseases [RCV004981658]uncertain significance129115312391153123Human1name
597673481CV3652166single nucleotide variantNM_001920.5(DCN):c.433C>T (p.Pro145Ser)Inborn genetic diseases [RCV004981659]uncertain significance129115840191158401Human1name
597673489CV3652167single nucleotide variantNM_001920.5(DCN):c.929G>A (p.Ser310Asn)Inborn genetic diseases [RCV004981660]likely benign129114620991146209Human1name
597673495CV3652168single nucleotide variantNM_001920.5(DCN):c.448A>C (p.Lys150Gln)Inborn genetic diseases [RCV004981661]uncertain significance129115838691158386Human1name
597673500CV3652169single nucleotide variantNM_001920.5(DCN):c.602A>C (p.Lys201Thr)Inborn genetic diseases [RCV004981662]uncertain significance129115712591157125Human1name
598262451CV3963726single nucleotide variantNM_001920.5(DCN):c.643A>G (p.Ile215Val)Inborn genetic diseases [RCV005325386]uncertain significance129115708491157084Human1name
598262453CV3963727single nucleotide variantNM_001920.5(DCN):c.323A>G (p.His108Arg)Inborn genetic diseases [RCV005325387]uncertain significance129116460691164606Human1name
14693513CV620460deletionNM_001920.5(DCN):c.47_50del (p.Ala16fs)Congenital stromal corneal dystrophy [RCV000779120]uncertain significance129117850391178506Humanname
28911239CV870556single nucleotide variantNM_001920.5(DCN):c.671C>T (p.Thr224Met)Congenital stromal corneal dystrophy [RCV001110219]|Inborn genetic diseases [RCV002556161]benign|uncertain significance129115317191153171Human2name
28911240CV870557single nucleotide variantNM_001920.5(DCN):c.632A>G (p.Asn211Ser)Congenital stromal corneal dystrophy [RCV001110220]uncertain significance129115709591157095Human1name
28911241CV870558single nucleotide variantNM_001920.5(DCN):c.560A>G (p.Lys187Arg)Congenital stromal corneal dystrophy [RCV001110221]uncertain significance129115716791157167Human1name
155984030CV2241073single nucleotide variantNM_001920.5(DCN):c.1033A>G (p.Arg345Gly)Inborn genetic diseases [RCV002732726]uncertain significance129114610591146105Human1name
156149768CV2293012single nucleotide variantNM_001920.5(DCN):c.1045G>A (p.Val349Met)Inborn genetic diseases [RCV002850815]uncertain significance129114609391146093Human1name
401830813CV2748437single nucleotide variantNM_001920.5(DCN):c.1036T>G (p.Cys346Gly)Congenital stromal corneal dystrophy [RCV003330046]not provided129114610291146102Humanname
401897729CV2772874single nucleotide variantNM_001920.5(DCN):c.1014G>C (p.Glu338Asp)Inborn genetic diseases [RCV003375899]uncertain significance129114612491146124Human1name
401894897CV2782051single nucleotide variantNM_001920.5(DCN):c.1048C>T (p.Arg350Cys)Inborn genetic diseases [RCV003371984]uncertain significance129114609091146090Human1name
11619664CV326998single nucleotide variantNM_001920.5(DCN):c.1062A>T (p.Gln354His)Congenital stromal corneal dystrophy [RCV000328205]uncertain significance129114607691146076Human1name
598262459CV3963729single nucleotide variantNM_001920.5(DCN):c.1049G>A (p.Arg350His)Inborn genetic diseases [RCV005325389]uncertain significance129114608991146089Human1name
28871773CV870555single nucleotide variantNM_001920.5(DCN):c.1066G>A (p.Gly356Arg)Congenital stromal corneal dystrophy [RCV001114244]|Inborn genetic diseases [RCV004032183]likely benign|uncertain significance129114607291146072Human2name