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44 records found for search term Mcat
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401907081CV2795827single nucleotide variantNM_173467.5(MCAT):c.424-2A>GOptic atrophy 15 [RCV003397174]pathogenic224314125143141251Human1name
401921958CV2819641single nucleotide variantNM_173467.5(MCAT):c.511+76A>Gnot provided [RCV003433278]benign224314108643141086Humanname
401867042CV2780034single nucleotide variantNM_173467.5(MCAT):c.7G>A (p.Val3Ile)not specified [RCV004355703]uncertain significance224314334243143342Humanname
401862015CV2766549single nucleotide variantNM_173467.5(MCAT):c.20G>C (p.Arg7Pro)not specified [RCV004347168]uncertain significance224314332943143329Humanname
596939833CV3408046single nucleotide variantNM_173467.5(MCAT):c.46G>T (p.Ala16Ser)Retinal dystrophy [RCV004814506]uncertain significance224314330343143303Human2name
15152826CV717495single nucleotide variantNM_173467.5(MCAT):c.711G>C (p.Val237=)not provided [RCV000968427]benign224313709943137099Humanname
153305030CV1687479single nucleotide variantNM_173467.5(MCAT):c.235C>G (p.Arg79Gly)MCAT-related condition [RCV004758883]|Retinal dystrophy [RCV004816992]|not provided [RCV002263299]likely benign|uncertain significance224314311443143114Human3name , trait
156230434CV2348680single nucleotide variantNM_173467.5(MCAT):c.122A>T (p.Asp41Val)not specified [RCV004201096]uncertain significance224314322743143227Humanname
155933417CV2399317single nucleotide variantNM_173467.5(MCAT):c.176C>T (p.Pro59Leu)not specified [RCV004242607]uncertain significance224314317343143173Humanname
329382518CV2424405single nucleotide variantNM_173467.5(MCAT):c.289G>T (p.Val97Leu)not specified [RCV004252301]uncertain significance224314306043143060Humanname
401759537CV2701600single nucleotide variantNM_173467.5(MCAT):c.206G>C (p.Gly69Ala)not specified [RCV004314025]uncertain significance224314314343143143Humanname
408367569CV3507823single nucleotide variantNM_173467.5(MCAT):c.231G>A (p.Met77Ile)MCAT-related condition [RCV004758973]likely benign224314311843143118Humanname , trait
597648172CV3703023single nucleotide variantNM_173467.5(MCAT):c.211G>A (p.Gly71Ser)not specified [RCV004942738]uncertain significance224314313843143138Humanname
597648187CV3703025single nucleotide variantNM_173467.5(MCAT):c.284G>C (p.Arg95Pro)not specified [RCV004942740]uncertain significance224314306543143065Humanname
598210580CV3992620single nucleotide variantNM_173467.5(MCAT):c.248A>G (p.Asn83Ser)not specified [RCV005377885]uncertain significance224314310143143101Humanname
156226468CV2215966single nucleotide variantNM_173467.5(MCAT):c.635G>A (p.Arg212Gln)not specified [RCV004097031]likely benign224313717543137175Humanname
155982036CV2351500single nucleotide variantNM_173467.5(MCAT):c.679G>A (p.Val227Met)not specified [RCV004193182]uncertain significance224313713143137131Humanname
156165275CV2398800single nucleotide variantNM_173467.5(MCAT):c.653T>C (p.Leu218Ser)not specified [RCV004245126]uncertain significance224313715743137157Humanname
401767592CV2729774single nucleotide variantNM_173467.5(MCAT):c.845C>T (p.Thr282Met)Retinal dystrophy [RCV004818315]|not specified [RCV004332791]uncertain significance224313337143133371Human2name
401907082CV2795828single nucleotide variantNM_173467.5(MCAT):c.823G>A (p.Glu275Lys)Optic atrophy 15 [RCV003397175]pathogenic224313339343133393Human1name
401907083CV2795829single nucleotide variantNM_173467.5(MCAT):c.812C>T (p.Thr271Ile)not provided [RCV003397176]uncertain significance224313340443133404Humanname
401921957CV2819640single nucleotide variantNM_173467.5(MCAT):c.775C>T (p.Arg259Cys)not provided [RCV003433277]|not specified [RCV004364584]uncertain significance224313344143133441Humanname
405668677CV3278305single nucleotide variantNM_173467.5(MCAT):c.328C>T (p.Pro110Ser)not specified [RCV004419050]uncertain significance224314302143143021Humanname
405668683CV3278306single nucleotide variantNM_173467.5(MCAT):c.778A>G (p.Thr260Ala)not specified [RCV004419051]likely benign224313343843133438Humanname
405668690CV3278307single nucleotide variantNM_173467.5(MCAT):c.829G>A (p.Ala277Thr)not specified [RCV004419052]uncertain significance224313338743133387Humanname
596939639CV3407984single nucleotide variantNM_173467.5(MCAT):c.907G>A (p.Ala303Thr)Retinal dystrophy [RCV004814444]uncertain significance224313330943133309Human2name
596941862CV3408239single nucleotide variantNM_173467.5(MCAT):c.832G>A (p.Val278Met)Retinal dystrophy [RCV004815910]uncertain significance224313338443133384Human2name
596941925CV3408366single nucleotide variantNM_173467.5(MCAT):c.458G>A (p.Ser153Asn)Retinal dystrophy [RCV004816037]uncertain significance224314121543141215Human2name
596942012CV3408397single nucleotide variantNM_173467.5(MCAT):c.937C>G (p.His313Asp)Retinal dystrophy [RCV004816068]uncertain significance224313327943133279Human2name
407469425CV3457154single nucleotide variantNM_173467.5(MCAT):c.928G>A (p.Gly310Arg)not specified [RCV004636626]uncertain significance224313328843133288Humanname
597648142CV3703019single nucleotide variantNM_173467.5(MCAT):c.892T>C (p.Tyr298His)not specified [RCV004942734]likely benign224313332443133324Humanname
597648149CV3703020single nucleotide variantNM_173467.5(MCAT):c.865G>A (p.Asp289Asn)not specified [RCV004942735]uncertain significance224313335143133351Humanname
597648180CV3703024single nucleotide variantNM_173467.5(MCAT):c.837G>T (p.Glu279Asp)not specified [RCV004942739]uncertain significance224313337943133379Humanname
598178468CV3992623single nucleotide variantNM_173467.5(MCAT):c.999A>G (p.Ile333Met)not specified [RCV005371777]uncertain significance224313321743133217Humanname
150529207CV1288760single nucleotide variantNM_173467.5(MCAT):c.1039G>A (p.Glu347Lys)not provided [RCV001727228]uncertain significance224313317743133177Humanname
329382520CV2465240single nucleotide variantNM_173467.5(MCAT):c.1088T>C (p.Met363Thr)not specified [RCV004281042]uncertain significance224313312843133128Humanname
405668667CV3278303single nucleotide variantNM_173467.5(MCAT):c.1003G>A (p.Glu335Lys)not specified [RCV004419048]uncertain significance224313321343133213Humanname
405668671CV3278304single nucleotide variantNM_173467.5(MCAT):c.1064G>A (p.Gly355Glu)not specified [RCV004419049]uncertain significance224313315243133152Humanname
407473202CV3457155single nucleotide variantNM_173467.5(MCAT):c.1146C>A (p.Asp382Glu)not specified [RCV004637796]uncertain significance224313307043133070Humanname
597648158CV3703021single nucleotide variantNM_173467.5(MCAT):c.1078A>C (p.Ser360Arg)not specified [RCV004942736]uncertain significance224313313843133138Humanname
597648166CV3703022single nucleotide variantNM_173467.5(MCAT):c.1103C>T (p.Ser368Phe)not specified [RCV004942737]uncertain significance224313311343133113Humanname
598210591CV3992622single nucleotide variantNM_173467.5(MCAT):c.1151A>G (p.Asp384Gly)not specified [RCV005377887]uncertain significance224313306543133065Humanname
15140224CV717494single nucleotide variantNM_173467.5(MCAT):c.1161G>T (p.Glu387Asp)not provided [RCV000966102]benign224313305543133055Humanname
15194278CV729236single nucleotide variantNM_173467.5(MCAT):c.1128G>C (p.Gln376His)not provided [RCV000889178]benign224313308843133088Humanname