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Variants search result for All species
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162 records found for search term Nrcam
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150482910CV1261696single nucleotide variantNM_001037132.4(NRCAM):c.1631-9A>Gnot provided [RCV001686300]benign7108194180108194180Humanname
151662676CV1320666single nucleotide variantNM_001037132.4(NRCAM):c.2647-2A>GNRCAM-related disorder [RCV001824183]pathogenic7108180429108180429Humanname , trait
405272481CV3210087single nucleotide variantNM_001037132.4(NRCAM):c.1075+4T>CNRCAM-related disorder [RCV004539464]benign7108209417108209417Humanname , trait
405283848CV3213429single nucleotide variantNM_001037132.4(NRCAM):c.2036-8G>ANRCAM-related disorder [RCV004539443]likely benign7108184622108184622Humanname , trait
15103650CV759707single nucleotide variantNM_001037132.4(NRCAM):c.3598+8A>Gnot provided [RCV000915204]likely benign7108160353108160353Humanname
150437662CV1249908single nucleotide variantNM_001037132.4(NRCAM):c.2531-15C>Tnot provided [RCV001665822]benign7108181952108181952Humanname
151662684CV1320670single nucleotide variantNM_001037132.4(NRCAM):c.230+824G>CNRCAM-related disorder [RCV001824187]likely pathogenic7108233759108233759Humanname , trait
405257804CV3207886microsatelliteNM_001037132.4(NRCAM):c.2036-21GT[5]NRCAM-related disorder [RCV004532126]likely benign7108184624108184625Humanname , trait
405708208CV3362635single nucleotide variantNM_001037132.4(NRCAM):c.11A>C (p.Lys4Thr)Inborn genetic diseases [RCV004493450]uncertain significance7108240054108240054Human1name
597689671CV3576770single nucleotide variantNM_001037132.4(NRCAM):c.25A>G (p.Lys9Glu)Inborn genetic diseases [RCV004954004]uncertain significance7108240040108240040Human1name
156362928CV2330448single nucleotide variantNM_001037132.4(NRCAM):c.41C>T (p.Ala14Val)Inborn genetic diseases [RCV002941620]uncertain significance7108240024108240024Human1name
156056646CV2371107single nucleotide variantNM_001037132.4(NRCAM):c.36A>C (p.Leu12Phe)Inborn genetic diseases [RCV002693164]uncertain significance7108240029108240029Human1name
155962739CV2388289single nucleotide variantNM_001037132.4(NRCAM):c.31C>T (p.Arg11Cys)Inborn genetic diseases [RCV002754161]likely benign7108240034108240034Human1name
407476876CV3465857single nucleotide variantNM_001037132.4(NRCAM):c.88C>G (p.Leu30Val)Inborn genetic diseases [RCV004638690]uncertain significance7108239977108239977Human1name
150459534CV1268357single nucleotide variantNM_001037132.4(NRCAM):c.1602G>A (p.Ala534=)not provided [RCV001693354]benign7108194290108194290Humanname
151662681CV1320669single nucleotide variantNM_001037132.4(NRCAM):c.164A>G (p.Asp55Gly)NRCAM-related disorder [RCV001824186]pathogenic7108234649108234649Humanname , trait
329355090CV2477456deletionNM_001037132.4(NRCAM):c.26_29del (p.Lys9fs)Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003221778]likely pathogenic7108240036108240039Human1name
401897676CV2772759single nucleotide variantNM_001037132.4(NRCAM):c.221C>T (p.Pro74Leu)Inborn genetic diseases [RCV003375846]|NRCAM-related disorder [RCV004529629]uncertain significance7108234592108234592Human2name , trait
401908988CV2823113single nucleotide variantNM_001037132.4(NRCAM):c.106C>A (p.Pro36Thr)not provided [RCV003423749]uncertain significance7108239959108239959Humanname
405286338CV3192099single nucleotide variantNM_001037132.4(NRCAM):c.2997C>T (p.Gly999=)NRCAM-related disorder [RCV004539513]likely benign7108176584108176584Humanname , trait
405262287CV3194436single nucleotide variantNM_001037132.4(NRCAM):c.2043C>A (p.Ile681=)NRCAM-related disorder [RCV004539252]likely benign7108184607108184607Humanname , trait
405255804CV3211319single nucleotide variantNM_001037132.4(NRCAM):c.2925G>A (p.Pro975=)NRCAM-related disorder [RCV004532225]likely benign7108178039108178039Humanname , trait
405270521CV3211499single nucleotide variantNM_001037132.4(NRCAM):c.1770T>C (p.Ser590=)NRCAM-related disorder [RCV004542340]likely benign7108194032108194032Humanname , trait
405708293CV3362647single nucleotide variantNM_001037132.4(NRCAM):c.274G>A (p.Asp92Asn)Inborn genetic diseases [RCV004493462]uncertain significance7108232479108232479Human1name
405708300CV3362648single nucleotide variantNM_001037132.4(NRCAM):c.278C>T (p.Pro93Leu)Inborn genetic diseases [RCV004493463]uncertain significance7108232475108232475Human1name
597689526CV3566808single nucleotide variantNM_001037132.4(NRCAM):c.244C>T (p.Arg82Cys)Inborn genetic diseases [RCV004953988]uncertain significance7108232509108232509Human1name
15165620CV710706single nucleotide variantNM_001037132.4(NRCAM):c.1147A>C (p.Arg383=)NRCAM-related disorder [RCV004535959]|not provided [RCV000970990]benign7108207588108207588Human1name , trait
15150947CV750344single nucleotide variantNM_001037132.4(NRCAM):c.2289G>A (p.Leu763=)NRCAM-related disorder [RCV004533558]|not provided [RCV000923572]likely benign7108184256108184256Human1name , trait
151662677CV1320667single nucleotide variantNM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro)NRCAM-related disorder [RCV001824184]|not provided [RCV002246517]pathogenic|uncertain significance7108232353108232353Human1name , trait
151662679CV1320668single nucleotide variantNM_001037132.4(NRCAM):c.331G>T (p.Glu111Ter)NRCAM-related disorder [RCV001824185]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246518]pathogenic7108232422108232422Human1name , trait
151662696CV1320675single nucleotide variantNM_001037132.4(NRCAM):c.590G>A (p.Gly197Asp)NRCAM-related disorder [RCV001824192]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246521]pathogenic7108226339108226339Human1name , trait
156244198CV2207236single nucleotide variantNM_001037132.4(NRCAM):c.671A>T (p.His224Leu)Inborn genetic diseases [RCV002702034]uncertain significance7108226258108226258Human1name
401783822CV2720467single nucleotide variantNM_001037132.4(NRCAM):c.313A>G (p.Ile105Val)Inborn genetic diseases [RCV003309969]uncertain significance7108232440108232440Human1name
401762512CV2723472single nucleotide variantNM_001037132.4(NRCAM):c.644A>T (p.Asp215Val)Inborn genetic diseases [RCV003300228]uncertain significance7108226285108226285Human1name
401862702CV2762356single nucleotide variantNM_001037132.4(NRCAM):c.979A>C (p.Ile327Leu)Inborn genetic diseases [RCV003358619]uncertain significance7108209517108209517Human1name
404998869CV2850637single nucleotide variantNM_001037132.4(NRCAM):c.638G>A (p.Arg213His)Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493109]uncertain significance7108226291108226291Human1name
404998881CV2850639single nucleotide variantNM_001037132.4(NRCAM):c.362A>T (p.Tyr121Phe)Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493111]uncertain significance7108232391108232391Human1name
405708315CV3362650single nucleotide variantNM_001037132.4(NRCAM):c.331G>C (p.Glu111Gln)Inborn genetic diseases [RCV004493465]uncertain significance7108232422108232422Human1name
405708343CV3362654single nucleotide variantNM_001037132.4(NRCAM):c.505C>T (p.Pro169Ser)Inborn genetic diseases [RCV004493469]uncertain significance7108231076108231076Human1name
405708352CV3362655single nucleotide variantNM_001037132.4(NRCAM):c.569A>G (p.Gln190Arg)Inborn genetic diseases [RCV004493470]uncertain significance7108226360108226360Human1name
405708357CV3362656single nucleotide variantNM_001037132.4(NRCAM):c.586C>G (p.Gln196Glu)Inborn genetic diseases [RCV004493471]uncertain significance7108226343108226343Human1name
405708366CV3362657single nucleotide variantNM_001037132.4(NRCAM):c.605T>G (p.Leu202Arg)Inborn genetic diseases [RCV004493472]uncertain significance7108226324108226324Human1name
405708372CV3362658single nucleotide variantNM_001037132.4(NRCAM):c.640G>A (p.Glu214Lys)Inborn genetic diseases [RCV004493473]uncertain significance7108226289108226289Human1name
405708379CV3362659single nucleotide variantNM_001037132.4(NRCAM):c.686A>T (p.Gln229Leu)Inborn genetic diseases [RCV004493474]uncertain significance7108226243108226243Human1name
407516839CV3465859single nucleotide variantNM_001037132.4(NRCAM):c.529A>G (p.Ile177Val)Inborn genetic diseases [RCV004650423]uncertain significance7108231052108231052Human1name
597689561CV3566812single nucleotide variantNM_001037132.4(NRCAM):c.320A>T (p.Asn107Ile)Inborn genetic diseases [RCV004953992]uncertain significance7108232433108232433Human1name
597689569CV3566813single nucleotide variantNM_001037132.4(NRCAM):c.376A>G (p.Arg126Gly)Inborn genetic diseases [RCV004953993]uncertain significance7108232377108232377Human1name
597689618CV3576764single nucleotide variantNM_001037132.4(NRCAM):c.898C>G (p.Pro300Ala)Inborn genetic diseases [RCV004953998]uncertain significance7108209598108209598Human1name
597689629CV3576765single nucleotide variantNM_001037132.4(NRCAM):c.788G>A (p.Ser263Asn)Inborn genetic diseases [RCV004953999]uncertain significance7108223827108223827Human1name
597689654CV3576768single nucleotide variantNM_001037132.4(NRCAM):c.743T>C (p.Ile248Thr)Inborn genetic diseases [RCV004954002]uncertain significance7108225680108225680Human1name
598264618CV3998046single nucleotide variantNM_001037132.4(NRCAM):c.986A>G (p.His329Arg)Inborn genetic diseases [RCV005387794]uncertain significance7108209510108209510Human1name
598264626CV3998049single nucleotide variantNM_001037132.4(NRCAM):c.320A>G (p.Asn107Ser)Inborn genetic diseases [RCV005387796]uncertain significance7108232433108232433Human1name
598264634CV3998051single nucleotide variantNM_001037132.4(NRCAM):c.677A>T (p.Gln226Leu)Inborn genetic diseases [RCV005387798]uncertain significance7108226252108226252Human1name
598220061CV3998055single nucleotide variantNM_001037132.4(NRCAM):c.571A>G (p.Ser191Gly)Inborn genetic diseases [RCV005379447]uncertain significance7108226358108226358Human1name
598220067CV3998056single nucleotide variantNM_001037132.4(NRCAM):c.742A>G (p.Ile248Val)Inborn genetic diseases [RCV005379448]uncertain significance7108225681108225681Human1name
15184642CV710704single nucleotide variantNM_001037132.4(NRCAM):c.3744A>G (p.Lys1248=)not provided [RCV000975163]benign7108150081108150081Humanname
15193625CV750343single nucleotide variantNM_001037132.4(NRCAM):c.3606A>G (p.Glu1202=)not provided [RCV000910893]likely benign7108159534108159534Humanname
150493122CV1238607single nucleotide variantNM_001037132.4(NRCAM):c.1633C>G (p.Pro545Ala)not provided [RCV001655151]benign7108194169108194169Humanname
151662672CV1320664single nucleotide variantNM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter)NRCAM-related disorder [RCV001824181]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246516]pathogenic7108180289108180289Human1name , trait
151662687CV1320671single nucleotide variantNM_001037132.4(NRCAM):c.2557C>T (p.Arg853Cys)Inborn genetic diseases [RCV003163938]|NRCAM-related disorder [RCV001824188]pathogenic|uncertain significance7108181911108181911Human2name , trait
151662690CV1320672single nucleotide variantNM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr)Inborn genetic diseases [RCV002541338]|NRCAM-related disorder [RCV001824189]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV005397023]pathogenic|uncertain significance7108180369108180369Human2name , trait
151662692CV1320673single nucleotide variantNM_001037132.4(NRCAM):c.1406A>G (p.Asn469Ser)NRCAM-related disorder [RCV001824190]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246519]pathogenic7108195818108195818Human1name , trait
151662694CV1320674single nucleotide variantNM_001037132.4(NRCAM):c.2738G>A (p.Gly913Asp)NRCAM-related disorder [RCV001824191]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246520]pathogenic7108180336108180336Human1name , trait
156387979CV2221678single nucleotide variantNM_001037132.4(NRCAM):c.2053G>A (p.Glu685Lys)Inborn genetic diseases [RCV002724011]uncertain significance7108184597108184597Human1name
156389081CV2229905single nucleotide variantNM_001037132.4(NRCAM):c.1453A>G (p.Thr485Ala)Inborn genetic diseases [RCV002724273]uncertain significance7108195771108195771Human1name
156082042CV2244365single nucleotide variantNM_001037132.4(NRCAM):c.2745G>T (p.Leu915Phe)Inborn genetic diseases [RCV002737972]uncertain significance7108180329108180329Human1name
156153562CV2266006single nucleotide variantNM_001037132.4(NRCAM):c.2297C>T (p.Thr766Met)Inborn genetic diseases [RCV002826930]uncertain significance7108184248108184248Human1name
156019250CV2272564single nucleotide variantNM_001037132.4(NRCAM):c.1576G>T (p.Val526Phe)Inborn genetic diseases [RCV002844466]uncertain significance7108194316108194316Human1name
156175447CV2278206single nucleotide variantNM_001037132.4(NRCAM):c.2645G>A (p.Arg882Gln)Inborn genetic diseases [RCV002873349]uncertain significance7108181823108181823Human1name
156264452CV2282662single nucleotide variantNM_001037132.4(NRCAM):c.2177G>A (p.Ser726Asn)Inborn genetic diseases [RCV002831918]uncertain significance7108184473108184473Human1name
156036454CV2283068single nucleotide variantNM_001037132.4(NRCAM):c.2867C>T (p.Ser956Leu)Inborn genetic diseases [RCV002845762]uncertain significance7108178097108178097Human1name
155961382CV2285523single nucleotide variantNM_001037132.4(NRCAM):c.2125C>A (p.Leu709Met)Inborn genetic diseases [RCV002841354]uncertain significance7108184525108184525Human1name
155993182CV2286277single nucleotide variantNM_001037132.4(NRCAM):c.1530G>C (p.Leu510Phe)Inborn genetic diseases [RCV002864687]uncertain significance7108194362108194362Human1name
156163895CV2319668single nucleotide variantNM_001037132.4(NRCAM):c.1312T>C (p.Tyr438His)Inborn genetic diseases [RCV002955437]uncertain significance7108197995108197995Human1name
156191991CV2325670single nucleotide variantNM_001037132.4(NRCAM):c.2902C>T (p.Leu968Phe)Inborn genetic diseases [RCV002931042]uncertain significance7108178062108178062Human1name
156234338CV2346269single nucleotide variantNM_001037132.4(NRCAM):c.1856A>G (p.Asn619Ser)Inborn genetic diseases [RCV002986970]uncertain significance7108191776108191776Human1name
156281602CV2348791single nucleotide variantNM_001037132.4(NRCAM):c.2995G>A (p.Gly999Ser)Inborn genetic diseases [RCV002989416]uncertain significance7108176586108176586Human1name
155928927CV2356578single nucleotide variantNM_001037132.4(NRCAM):c.2795A>G (p.Asn932Ser)Inborn genetic diseases [RCV002970428]uncertain significance7108180279108180279Human1name
156167444CV2373685single nucleotide variantNM_001037132.4(NRCAM):c.1480G>A (p.Gly494Arg)Inborn genetic diseases [RCV002698628]uncertain significance7108194412108194412Human1name
156171280CV2400663single nucleotide variantNM_001037132.4(NRCAM):c.2558G>A (p.Arg853His)Inborn genetic diseases [RCV002765302]likely benign7108181910108181910Human1name
329372837CV2434034single nucleotide variantNM_001037132.4(NRCAM):c.2561T>C (p.Val854Ala)Inborn genetic diseases [RCV003172897]uncertain significance7108181907108181907Human1name
401774610CV2713567single nucleotide variantNM_001037132.4(NRCAM):c.1844C>T (p.Thr615Met)Inborn genetic diseases [RCV003262613]uncertain significance7108191788108191788Human1name
401782688CV2719939single nucleotide variantNM_001037132.4(NRCAM):c.1079C>T (p.Ala360Val)Inborn genetic diseases [RCV003309120]uncertain significance7108207656108207656Human1name
401890900CV2768798single nucleotide variantNM_001037132.4(NRCAM):c.2519C>T (p.Ser840Phe)Inborn genetic diseases [RCV003369171]uncertain significance7108182706108182706Human1name
401870243CV2772659single nucleotide variantNM_001037132.4(NRCAM):c.2609C>G (p.Pro870Arg)Inborn genetic diseases [RCV003346056]uncertain significance7108181859108181859Human1name
401864554CV2781844single nucleotide variantNM_001037132.4(NRCAM):c.1459G>A (p.Glu487Lys)Inborn genetic diseases [RCV003379048]uncertain significance7108195765108195765Human1name
401908986CV2823112single nucleotide variantNM_001037132.4(NRCAM):c.2201A>T (p.Glu734Val)not provided [RCV003423748]uncertain significance7108184449108184449Humanname
404998875CV2850638single nucleotide variantNM_001037132.4(NRCAM):c.2536A>G (p.Met846Val)Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493110]uncertain significance7108181932108181932Human1name
404998887CV2850640single nucleotide variantNM_001037132.4(NRCAM):c.2581T>G (p.Leu861Val)Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493112]uncertain significance7108181887108181887Human1name
405274318CV3195081single nucleotide variantNM_001037132.4(NRCAM):c.2572A>G (p.Asn858Asp)NRCAM-related disorder [RCV004534624]likely benign7108181896108181896Humanname , trait
405272246CV3206559single nucleotide variantNM_001037132.4(NRCAM):c.1484G>A (p.Ser495Asn)NRCAM-related disorder [RCV004540859]benign7108194408108194408Humanname , trait
405255859CV3208373single nucleotide variantNM_001037132.4(NRCAM):c.1357C>G (p.Pro453Ala)NRCAM-related disorder [RCV004532230]likely benign7108195867108195867Humanname , trait
405293320CV3221410single nucleotide variantNM_001037132.4(NRCAM):c.2032A>G (p.Thr678Ala)NRCAM-related disorder [RCV004545716]likely benign7108189648108189648Humanname , trait
405708192CV3362633single nucleotide variantNM_001037132.4(NRCAM):c.1058T>C (p.Ile353Thr)Inborn genetic diseases [RCV004493448]uncertain significance7108209438108209438Human1name
405708201CV3362634single nucleotide variantNM_001037132.4(NRCAM):c.1076C>T (p.Ala359Val)Inborn genetic diseases [RCV004493449]uncertain significance7108207659108207659Human1name
405708214CV3362636single nucleotide variantNM_001037132.4(NRCAM):c.1214C>T (p.Pro405Leu)Inborn genetic diseases [RCV004493451]uncertain significance7108198093108198093Human1name
405708220CV3362637single nucleotide variantNM_001037132.4(NRCAM):c.1324C>G (p.Leu442Val)Inborn genetic diseases [RCV004493452]uncertain significance7108197983108197983Human1name
405708232CV3362639single nucleotide variantNM_001037132.4(NRCAM):c.1477A>C (p.Lys493Gln)Inborn genetic diseases [RCV004493454]uncertain significance7108194415108194415Human1name
405708238CV3362640single nucleotide variantNM_001037132.4(NRCAM):c.1547A>T (p.Gln516Leu)Inborn genetic diseases [RCV004493455]uncertain significance7108194345108194345Human1name
405708244CV3362641single nucleotide variantNM_001037132.4(NRCAM):c.1605G>C (p.Lys535Asn)Inborn genetic diseases [RCV004493456]uncertain significance7108194287108194287Human1name
405708260CV3362643single nucleotide variantNM_001037132.4(NRCAM):c.2074G>T (p.Gly692Trp)Inborn genetic diseases [RCV004493458]uncertain significance7108184576108184576Human1name
405708267CV3362644single nucleotide variantNM_001037132.4(NRCAM):c.2690G>A (p.Arg897His)Inborn genetic diseases [RCV004493459]uncertain significance7108180384108180384Human1name
405708275CV3362645single nucleotide variantNM_001037132.4(NRCAM):c.2701A>G (p.Lys901Glu)Inborn genetic diseases [RCV004493460]uncertain significance7108180373108180373Human1name
405708285CV3362646single nucleotide variantNM_001037132.4(NRCAM):c.2747C>T (p.Pro916Leu)Inborn genetic diseases [RCV004493461]uncertain significance7108180327108180327Human1name
405708308CV3362649single nucleotide variantNM_001037132.4(NRCAM):c.2956A>G (p.Thr986Ala)Inborn genetic diseases [RCV004493464]uncertain significance7108178008108178008Human1name
407516834CV3465854single nucleotide variantNM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp)Inborn genetic diseases [RCV004650421]uncertain significance7108178012108178012Human1name
407476866CV3465855single nucleotide variantNM_001037132.4(NRCAM):c.2947A>G (p.Thr983Ala)Inborn genetic diseases [RCV004638688]uncertain significance7108178017108178017Human1name
407516836CV3465858single nucleotide variantNM_001037132.4(NRCAM):c.1507G>A (p.Val503Ile)Inborn genetic diseases [RCV004650422]uncertain significance7108194385108194385Human1name
407516841CV3465860single nucleotide variantNM_001037132.4(NRCAM):c.2158C>T (p.Arg720Cys)Inborn genetic diseases [RCV004650424]uncertain significance7108184492108184492Human1name
407476880CV3465861single nucleotide variantNM_001037132.4(NRCAM):c.2375A>G (p.Asp792Gly)Inborn genetic diseases [RCV004638691]uncertain significance7108182850108182850Human1name
597689535CV3566809single nucleotide variantNM_001037132.4(NRCAM):c.1009A>G (p.Asn337Asp)Inborn genetic diseases [RCV004953989]uncertain significance7108209487108209487Human1name
597689551CV3566811single nucleotide variantNM_001037132.4(NRCAM):c.1264G>C (p.Val422Leu)Inborn genetic diseases [RCV004953991]uncertain significance7108198043108198043Human1name
597689586CV3576761single nucleotide variantNM_001037132.4(NRCAM):c.1873G>A (p.Val625Ile)Inborn genetic diseases [RCV004953995]uncertain significance7108191759108191759Human1name
597689599CV3576762single nucleotide variantNM_001037132.4(NRCAM):c.2501C>A (p.Ala834Asp)Inborn genetic diseases [RCV004953996]uncertain significance7108182724108182724Human1name
597689608CV3576763single nucleotide variantNM_001037132.4(NRCAM):c.2360G>A (p.Arg787His)Inborn genetic diseases [RCV004953997]uncertain significance7108182865108182865Human1name
597689645CV3576767single nucleotide variantNM_001037132.4(NRCAM):c.2537T>C (p.Met846Thr)Inborn genetic diseases [RCV004954001]uncertain significance7108181931108181931Human1name
597689663CV3576769single nucleotide variantNM_001037132.4(NRCAM):c.2029A>C (p.Ile677Leu)Inborn genetic diseases [RCV004954003]uncertain significance7108189651108189651Human1name
597689687CV3576772single nucleotide variantNM_001037132.4(NRCAM):c.1430C>G (p.Ala477Gly)Inborn genetic diseases [RCV004954006]uncertain significance7108195794108195794Human1name
598126433CV3881911deletionNM_001037132.4(NRCAM):c.3186del (p.Val1063fs)Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV005233463]likely pathogenic7108175323108175323Human1name
598220016CV3998036single nucleotide variantNM_001037132.4(NRCAM):c.2303A>C (p.Lys768Thr)Inborn genetic diseases [RCV005379439]uncertain significance7108184242108184242Human1name
598264599CV3998037single nucleotide variantNM_001037132.4(NRCAM):c.1298A>G (p.Asn433Ser)Inborn genetic diseases [RCV005387790]uncertain significance7108198009108198009Human1name
598220019CV3998038single nucleotide variantNM_001037132.4(NRCAM):c.1048C>T (p.His350Tyr)Inborn genetic diseases [RCV005379440]uncertain significance7108209448108209448Human1name
598264604CV3998039single nucleotide variantNM_001037132.4(NRCAM):c.1720A>G (p.Thr574Ala)Inborn genetic diseases [RCV005387791]uncertain significance7108194082108194082Human1name
598220025CV3998040single nucleotide variantNM_001037132.4(NRCAM):c.1811C>T (p.Ala604Val)Inborn genetic diseases [RCV005379441]uncertain significance7108191821108191821Human1name
598220033CV3998041single nucleotide variantNM_001037132.4(NRCAM):c.1883G>A (p.Ser628Asn)Inborn genetic diseases [RCV005379442]uncertain significance7108191749108191749Human1name
598264607CV3998042single nucleotide variantNM_001037132.4(NRCAM):c.2726G>A (p.Ser909Asn)Inborn genetic diseases [RCV005387792]uncertain significance7108180348108180348Human1name
598264612CV3998043single nucleotide variantNM_001037132.4(NRCAM):c.1637C>T (p.Thr546Ile)Inborn genetic diseases [RCV005387793]uncertain significance7108194165108194165Human1name
598220038CV3998044single nucleotide variantNM_001037132.4(NRCAM):c.1339G>A (p.Val447Ile)Inborn genetic diseases [RCV005379443]uncertain significance7108197968108197968Human1name
598220042CV3998045single nucleotide variantNM_001037132.4(NRCAM):c.1813G>A (p.Asp605Asn)Inborn genetic diseases [RCV005379444]uncertain significance7108191819108191819Human1name
598220048CV3998047single nucleotide variantNM_001037132.4(NRCAM):c.1597A>G (p.Met533Val)Inborn genetic diseases [RCV005379445]uncertain significance7108194295108194295Human1name
598264622CV3998048single nucleotide variantNM_001037132.4(NRCAM):c.2609C>T (p.Pro870Leu)Inborn genetic diseases [RCV005387795]uncertain significance7108181859108181859Human1name
598264638CV3998052single nucleotide variantNM_001037132.4(NRCAM):c.2269G>C (p.Gly757Arg)Inborn genetic diseases [RCV005387799]uncertain significance7108184276108184276Human1name
598264642CV3998053single nucleotide variantNM_001037132.4(NRCAM):c.1726T>C (p.Ser576Pro)Inborn genetic diseases [RCV005387800]uncertain significance7108194076108194076Human1name
598220054CV3998054single nucleotide variantNM_001037132.4(NRCAM):c.2420T>C (p.Ile807Thr)Inborn genetic diseases [RCV005379446]uncertain significance7108182805108182805Human1name
14696184CV612388single nucleotide variantNM_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys)High myopia [RCV000785731]uncertain significance7108182814108182814Human2name
15124074CV710705single nucleotide variantNM_001037132.4(NRCAM):c.2699A>G (p.Glu900Gly)NRCAM-related disorder [RCV004535928]|not provided [RCV000963354]likely benign7108180375108180375Human1name , trait
8632280CV87488single nucleotide variantNM_001193582.1(NRCAM):c.1537C>T (p.Pro513Ser)Malignant melanoma [RCV000067579]not provided7108194355108194355Humanname
8647053CV106689single nucleotide variantNM_001037132.4(NRCAM):c.3764T>G (p.Leu1255Arg)not provided [RCV000087187]uncertain significance7108150061108150061Humanname
156250105CV2199634single nucleotide variantNM_001037132.4(NRCAM):c.3716G>A (p.Arg1239Gln)Inborn genetic diseases [RCV002668329]uncertain significance7108150109108150109Human1name
156365081CV2272051single nucleotide variantNM_001037132.4(NRCAM):c.3478C>T (p.Arg1160Trp)Inborn genetic diseases [RCV002813420]uncertain significance7108160481108160481Human1name
156290519CV2296514single nucleotide variantNM_001037132.4(NRCAM):c.3266A>C (p.Glu1089Ala)Inborn genetic diseases [RCV002878843]uncertain significance7108168324108168324Human1name
156301641CV2307090single nucleotide variantNM_001037132.4(NRCAM):c.3767T>C (p.Val1256Ala)Inborn genetic diseases [RCV002897999]uncertain significance7108150058108150058Human1name
155986316CV2363641single nucleotide variantNM_001037132.4(NRCAM):c.3350C>T (p.Ser1117Phe)Inborn genetic diseases [RCV002688821]uncertain significance7108167037108167037Human1name
156307299CV2369670single nucleotide variantNM_001037132.4(NRCAM):c.3259G>A (p.Glu1087Lys)Inborn genetic diseases [RCV003010837]uncertain significance7108168331108168331Human1name
329370257CV2435526single nucleotide variantNM_001037132.4(NRCAM):c.3889G>A (p.Val1297Ile)Inborn genetic diseases [RCV003184151]uncertain significance7108149936108149936Human1name
329354049CV2436848single nucleotide variantNM_001037132.4(NRCAM):c.3353G>A (p.Arg1118Gln)Inborn genetic diseases [RCV003201820]uncertain significance7108167034108167034Human1name
329393395CV2453332single nucleotide variantNM_001037132.4(NRCAM):c.3538C>T (p.Leu1180Phe)Inborn genetic diseases [RCV003193149]uncertain significance7108160421108160421Human1name
401723923CV2725089single nucleotide variantNM_001037132.4(NRCAM):c.3490A>T (p.Ile1164Phe)Inborn genetic diseases [RCV003268493]uncertain significance7108160469108160469Human1name
401855759CV2757410single nucleotide variantNM_001037132.4(NRCAM):c.3782G>A (p.Gly1261Glu)Inborn genetic diseases [RCV003339955]uncertain significance7108150043108150043Human1name
401885930CV2771496single nucleotide variantNM_001037132.4(NRCAM):c.3500A>G (p.Gln1167Arg)Inborn genetic diseases [RCV003366700]uncertain significance7108160459108160459Human1name
401870247CV2772660single nucleotide variantNM_001037132.4(NRCAM):c.3587G>A (p.Gly1196Asp)Inborn genetic diseases [RCV003346057]uncertain significance7108160372108160372Human1name
401873655CV2772707single nucleotide variantNM_001037132.4(NRCAM):c.3784G>T (p.Val1262Phe)Inborn genetic diseases [RCV003362047]uncertain significance7108150041108150041Human1name
405708329CV3362652single nucleotide variantNM_001037132.4(NRCAM):c.3410G>T (p.Gly1137Val)Inborn genetic diseases [RCV004493467]uncertain significance7108166977108166977Human1name
405708337CV3362653single nucleotide variantNM_001037132.4(NRCAM):c.3693C>A (p.His1231Gln)Inborn genetic diseases [RCV004493468]uncertain significance7108150132108150132Human1name
407476871CV3465856single nucleotide variantNM_001037132.4(NRCAM):c.3479G>A (p.Arg1160Gln)Inborn genetic diseases [RCV004638689]uncertain significance7108160480108160480Human1name
597689545CV3566810single nucleotide variantNM_001037132.4(NRCAM):c.3146A>G (p.Asp1049Gly)Inborn genetic diseases [RCV004953990]uncertain significance7108176435108176435Human1name
597689577CV3576760single nucleotide variantNM_001037132.4(NRCAM):c.3215A>G (p.Asn1072Ser)Inborn genetic diseases [RCV004953994]uncertain significance7108168375108168375Human1name
597689638CV3576766single nucleotide variantNM_001037132.4(NRCAM):c.3310G>A (p.Gly1104Ser)Inborn genetic diseases [RCV004954000]uncertain significance7108168280108168280Human1name
597689678CV3576771single nucleotide variantNM_001037132.4(NRCAM):c.3776G>A (p.Gly1259Glu)Inborn genetic diseases [RCV004954005]uncertain significance7108150049108150049Human1name
15185286CV722246single nucleotide variantNM_001037132.4(NRCAM):c.3853G>A (p.Ala1285Thr)NRCAM-related disorder [RCV004530938]|not provided [RCV000886652]benign7108149972108149972Human1name , trait
9831773CV166925deletionNM_001037132.4(NRCAM):c.-331-26289_-331-18537delNormal pregnancy [RCV000161491]not provided7108418130108425882Humanname
151662674CV1320665indelNM_001037132.4(NRCAM):c.2297_2302delinsTC (p.Thr766fs)NRCAM-related disorder [RCV001824182]pathogenic7108184243108184248Humanname , trait