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70 records found for search term Fzd6
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405260412CV3204029single nucleotide variantNM_003506.4(FZD6):c.*24G>AFZD6-related disorder [RCV003943907]likely benign8103331533103331533Humanname , trait , alternate_id
405286847CV3205514single nucleotide variantNM_003506.4(FZD6):c.374+8A>GFZD6-related disorder [RCV003959670]benign8103318794103318794Humanname , trait , alternate_id
41408227CV980928single nucleotide variantNM_003506.4(FZD6):c.1393-2A>GNonsyndromic congenital nail disorder 1 [RCV001283828]likely pathogenic8103328266103328266Human1name
8649690CV126264single nucleotide variantNM_001164615.1(FZD6):c.-1780C>TLung cancer [RCV000106751]uncertain significance8103296943103296943Humanname
150492738CV1275130single nucleotide variantNM_003506.4(FZD6):c.97A>G (p.Met33Val)Nonsyndromic congenital nail disorder 1 [RCV001702037]|not provided [RCV004713086]benign8103300204103300204Human1name
401750575CV2701369single nucleotide variantNM_003506.4(FZD6):c.43C>A (p.Leu15Ile)Inborn genetic diseases [RCV003276783]uncertain significance8103300150103300150Human1name
405292971CV3207126single nucleotide variantNM_003506.4(FZD6):c.46C>G (p.Leu16Val)FZD6-related disorder [RCV003931536]likely benign8103300153103300153Humanname , trait , alternate_id
405290794CV3207681single nucleotide variantNM_003506.4(FZD6):c.960C>T (p.Ile320=)FZD6-related disorder [RCV003927242]likely benign8103325066103325066Humanname , trait , alternate_id
408367709CV3512154single nucleotide variantNM_003506.4(FZD6):c.657T>C (p.Thr219=)FZD6-related disorder [RCV004759124]likely benign8103324763103324763Humanname , trait , alternate_id
156370245CV2263502single nucleotide variantNM_003506.4(FZD6):c.218T>C (p.Ile73Thr)Inborn genetic diseases [RCV002814204]uncertain significance8103318630103318630Human1name
401736266CV2703090single nucleotide variantNM_003506.4(FZD6):c.263A>C (p.Gln88Pro)Inborn genetic diseases [RCV003273129]uncertain significance8103318675103318675Human1name
405287356CV3205674single nucleotide variantNM_003506.4(FZD6):c.1809C>T (p.Asp603=)FZD6-related disorder [RCV003959801]likely benign8103329922103329922Humanname , trait , alternate_id
405282405CV3212903single nucleotide variantNM_003506.4(FZD6):c.1272T>C (p.Tyr424=)FZD6-related disorder [RCV003957024]benign8103325378103325378Humanname , trait , alternate_id
405267519CV3219324single nucleotide variantNM_003506.4(FZD6):c.1797G>A (p.Glu599=)FZD6-related disorder [RCV003969578]likely benign8103329910103329910Humanname , trait , alternate_id
405731015CV3257828single nucleotide variantNM_003506.4(FZD6):c.178C>T (p.His60Tyr)Inborn genetic diseases [RCV004390001]uncertain significance8103318590103318590Human1name
407485615CV3439481single nucleotide variantNM_003506.4(FZD6):c.158T>G (p.Ile53Ser)Inborn genetic diseases [RCV004618950]uncertain significance8103300265103300265Human1name
597682797CV3676977single nucleotide variantNM_003506.4(FZD6):c.287G>A (p.Arg96His)Inborn genetic diseases [RCV004983607]uncertain significance8103318699103318699Human1name
13523878CV491077single nucleotide variantNM_003506.4(FZD6):c.286C>T (p.Arg96Cys)Nonsyndromic congenital nail disorder 1 [RCV001027647]|not provided [RCV000593548]pathogenic|uncertain significance8103318698103318698Human1name
10044428CV188279single nucleotide variantNM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)Non-immune hydrops fetalis [RCV000170581]|Nonsyndromic congenital nail disorder 1 [RCV001329712]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance8103324975103324975Human3name
156255666CV2194520single nucleotide variantNM_003506.4(FZD6):c.560A>G (p.Asn187Ser)Inborn genetic diseases [RCV002668650]uncertain significance8103324666103324666Human1name
156152439CV2245346single nucleotide variantNM_003506.4(FZD6):c.635C>A (p.Ala212Glu)Inborn genetic diseases [RCV002786978]uncertain significance8103324741103324741Human1name
156252757CV2268415single nucleotide variantNM_003506.4(FZD6):c.787G>A (p.Ala263Thr)Inborn genetic diseases [RCV002831225]uncertain significance8103324893103324893Human1name
155901821CV2274580single nucleotide variantNM_003506.4(FZD6):c.390T>A (p.Asp130Glu)Inborn genetic diseases [RCV002836615]uncertain significance8103324496103324496Human1name
156050123CV2315909single nucleotide variantNM_003506.4(FZD6):c.491A>G (p.His164Arg)Inborn genetic diseases [RCV002924414]uncertain significance8103324597103324597Human1name
156276592CV2328050single nucleotide variantNM_003506.4(FZD6):c.861G>A (p.Met287Ile)Inborn genetic diseases [RCV002921447]uncertain significance8103324967103324967Human1name
329358016CV2427915single nucleotide variantNM_003506.4(FZD6):c.625T>G (p.Cys209Gly)Inborn genetic diseases [RCV003178812]uncertain significance8103324731103324731Human1name
329392300CV2441415single nucleotide variantNM_003506.4(FZD6):c.344T>G (p.Ile115Ser)Inborn genetic diseases [RCV003192593]uncertain significance8103318756103318756Human1name
401748066CV2687675single nucleotide variantNM_003506.4(FZD6):c.466G>C (p.Asp156His)Inborn genetic diseases [RCV003252993]uncertain significance8103324572103324572Human1name
401764767CV2705317single nucleotide variantNM_003506.4(FZD6):c.782A>G (p.Asn261Ser)Inborn genetic diseases [RCV003281966]uncertain significance8103324888103324888Human1name
401768547CV2716651single nucleotide variantNM_003506.4(FZD6):c.388G>A (p.Asp130Asn)Inborn genetic diseases [RCV003283226]uncertain significance8103324494103324494Human1name
405731035CV3257831single nucleotide variantNM_003506.4(FZD6):c.437C>T (p.Pro146Leu)Inborn genetic diseases [RCV004390004]uncertain significance8103324543103324543Human1name
405731044CV3257832single nucleotide variantNM_003506.4(FZD6):c.473G>T (p.Gly158Val)Inborn genetic diseases [RCV004390005]uncertain significance8103324579103324579Human1name
405731051CV3257833single nucleotide variantNM_003506.4(FZD6):c.740T>C (p.Met247Thr)Inborn genetic diseases [RCV004390006]uncertain significance8103324846103324846Human1name
407485609CV3439480single nucleotide variantNM_003506.4(FZD6):c.505G>A (p.Gly169Arg)Inborn genetic diseases [RCV004618949]uncertain significance8103324611103324611Human1name
597670706CV3676967single nucleotide variantNM_003506.4(FZD6):c.706T>C (p.Tyr236His)Inborn genetic diseases [RCV004980289]uncertain significance8103324812103324812Human1name
597670722CV3676970single nucleotide variantNM_003506.4(FZD6):c.986C>T (p.Ala329Val)Inborn genetic diseases [RCV004980292]uncertain significance8103325092103325092Human1name
597670735CV3676974single nucleotide variantNM_003506.4(FZD6):c.664A>G (p.Ile222Val)Inborn genetic diseases [RCV004980294]uncertain significance8103324770103324770Human1name
598218882CV3891723deletionNM_003506.4(FZD6):c.1622del (p.Lys541fs)Nonsyndromic congenital nail disorder 1 [RCV005252566]pathogenic8103329731103329731Human1name
13435635CV432403single nucleotide variantNM_003506.4(FZD6):c.346C>T (p.Arg116Ter)Nephroblastoma [RCV000505681]|not provided [RCV000578928]pathogenic|other8103318758103318758Human2name
156280205CV2281735single nucleotide variantNM_003506.4(FZD6):c.1694C>T (p.Thr565Ile)Inborn genetic diseases [RCV002878145]uncertain significance8103329807103329807Human1name
155921980CV2284235single nucleotide variantNM_003506.4(FZD6):c.1936G>A (p.Ala646Thr)Inborn genetic diseases [RCV002859791]uncertain significance8103330049103330049Human1name
156394991CV2328400single nucleotide variantNM_003506.4(FZD6):c.1939C>T (p.Arg647Trp)Inborn genetic diseases [RCV002944376]uncertain significance8103330052103330052Human1name
156382433CV2367233single nucleotide variantNM_003506.4(FZD6):c.1596G>T (p.Lys532Asn)Inborn genetic diseases [RCV002678963]uncertain significance8103329709103329709Human1name
401774512CV2727863single nucleotide variantNM_003506.4(FZD6):c.1480G>T (p.Val494Phe)Inborn genetic diseases [RCV003305308]uncertain significance8103328355103328355Human1name
401886330CV2771746single nucleotide variantNM_003506.4(FZD6):c.1934G>A (p.Ser645Asn)Inborn genetic diseases [RCV003366813]uncertain significance8103330047103330047Human1name
401873048CV2776417single nucleotide variantNM_003506.4(FZD6):c.1378C>T (p.Pro460Ser)Inborn genetic diseases [RCV003361920]uncertain significance8103325484103325484Human1name
401896710CV2791999single nucleotide variantNM_003506.4(FZD6):c.1900G>A (p.Asp634Asn)Inborn genetic diseases [RCV003374322]likely benign8103330013103330013Human1name
401895208CV2792843single nucleotide variantNM_003506.4(FZD6):c.1219C>G (p.Gln407Glu)Inborn genetic diseases [RCV003372241]uncertain significance8103325325103325325Human1name
405730996CV3257825single nucleotide variantNM_003506.4(FZD6):c.1022T>G (p.Met341Arg)Inborn genetic diseases [RCV004389998]uncertain significance8103325128103325128Human1name
405731002CV3257826single nucleotide variantNM_003506.4(FZD6):c.1306G>C (p.Val436Leu)Inborn genetic diseases [RCV004389999]uncertain significance8103325412103325412Human1name
405731007CV3257827single nucleotide variantNM_003506.4(FZD6):c.1348G>A (p.Val450Ile)Inborn genetic diseases [RCV004390000]uncertain significance8103325454103325454Human1name
405731023CV3257829single nucleotide variantNM_003506.4(FZD6):c.1937C>T (p.Ala646Val)Inborn genetic diseases [RCV004390002]uncertain significance8103330050103330050Human1name
405731029CV3257830single nucleotide variantNM_003506.4(FZD6):c.2035A>G (p.Ser679Gly)Inborn genetic diseases [RCV004390003]uncertain significance8103331423103331423Human1name
407485620CV3439482single nucleotide variantNM_003506.4(FZD6):c.1023G>T (p.Met341Ile)Inborn genetic diseases [RCV004618951]uncertain significance8103325129103325129Human1name
597670709CV3676968single nucleotide variantNM_003506.4(FZD6):c.1363C>T (p.Arg455Cys)Inborn genetic diseases [RCV004980290]uncertain significance8103325469103325469Human1name
597670716CV3676969single nucleotide variantNM_003506.4(FZD6):c.1940G>A (p.Arg647Gln)Inborn genetic diseases [RCV004980291]uncertain significance8103330053103330053Human1name
597670728CV3676972single nucleotide variantNM_003506.4(FZD6):c.2075C>T (p.Ser692Leu)Inborn genetic diseases [RCV004980293]uncertain significance8103331463103331463Human1name
597682791CV3676973single nucleotide variantNM_003506.4(FZD6):c.1204C>T (p.His402Tyr)Inborn genetic diseases [RCV004983606]uncertain significance8103325310103325310Human1name
597670737CV3676975single nucleotide variantNM_003506.4(FZD6):c.1250T>C (p.Ile417Thr)Inborn genetic diseases [RCV004980295]uncertain significance8103325356103325356Human1name
597670744CV3676976single nucleotide variantNM_003506.4(FZD6):c.1138T>A (p.Phe380Ile)Inborn genetic diseases [RCV004980296]uncertain significance8103325244103325244Human1name
8568291CV39311single nucleotide variantNM_003506.4(FZD6):c.1750G>T (p.Glu584Ter)Nail disease [RCV000077802]|Nonsyndromic congenital nail disorder 1 [RCV000023300]pathogenic8103329863103329863Human3name
8568292CV39312single nucleotide variantNM_003506.4(FZD6):c.1531C>T (p.Arg511Cys)Nail disease [RCV000077801]|Nonsyndromic congenital nail disorder 1 [RCV000023301]pathogenic8103328406103328406Human3name
598244125CV3977236single nucleotide variantNM_003506.4(FZD6):c.2029C>T (p.Pro677Ser)Inborn genetic diseases [RCV005344818]uncertain significance8103331417103331417Human1name
598244131CV3977237single nucleotide variantNM_003506.4(FZD6):c.1133G>T (p.Cys378Phe)Inborn genetic diseases [RCV005344819]uncertain significance8103325239103325239Human1name
598244138CV3977238single nucleotide variantNM_003506.4(FZD6):c.1340T>C (p.Ile447Thr)Inborn genetic diseases [RCV005344820]uncertain significance8103325446103325446Human1name
598158686CV3977239single nucleotide variantNM_003506.4(FZD6):c.1324A>G (p.Arg442Gly)Inborn genetic diseases [RCV005328102]uncertain significance8103325430103325430Human1name
598158689CV3977240single nucleotide variantNM_003506.4(FZD6):c.1697C>A (p.Ala566Glu)Inborn genetic diseases [RCV005328103]uncertain significance8103329810103329810Human1name
21071757CV790769single nucleotide variantNM_003506.4(FZD6):c.1214G>A (p.Arg405Gln)Nonsyndromic congenital nail disorder 1 [RCV000988106]|not provided [RCV004705995]benign|likely benign8103325320103325320Human1name
25327598CV815955single nucleotide variantNM_003506.4(FZD6):c.1525C>T (p.Arg509Ter)Nonsyndromic congenital nail disorder 1 [RCV001027646]pathogenic8103328400103328400Human1name
25327599CV815957single nucleotide variantNM_003506.4(FZD6):c.1312G>A (p.Glu438Lys)Nonsyndromic congenital nail disorder 1 [RCV001027648]pathogenic8103325418103325418Human1name