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


486 records found for search term Ift88
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8582698CV117252single nucleotide variantNM_006531.3(IFT88):c.-1332T>CLung cancer [RCV000097773]uncertain significance132056593120565931Humanname
151808830CV1362832single nucleotide variantNM_006531.5(IFT88):c.265-9T>Cnot provided [RCV001991626]likely benign132059160920591609Humanname
152057315CV1618916single nucleotide variantNM_006531.5(IFT88):c.264+9A>GIFT88-related disorder [RCV003958850]|not provided [RCV002127938]likely benign132059102920591029Humanname , trait , alternate_id
152150159CV1625694single nucleotide variantNM_006531.5(IFT88):c.698-7A>TIFT88-related disorder [RCV003933485]|not provided [RCV002139395]benign|likely benign132059944420599444Humanname , trait , alternate_id
152027460CV1628722single nucleotide variantNM_006531.5(IFT88):c.154-9C>Tnot provided [RCV002104900]likely benign132058980220589802Humanname
156058973CV1930877single nucleotide variantNM_006531.5(IFT88):c.211-5A>Gnot provided [RCV002638215]likely benign132059096220590962Humanname
156227614CV1955856single nucleotide variantNM_006531.5(IFT88):c.91-14C>Tnot provided [RCV002575757]likely benign132058294320582943Humanname
156395892CV1958939single nucleotide variantNM_006531.5(IFT88):c.91-13G>Anot provided [RCV002584355]likely benign132058294420582944Humanname
156246982CV1969584single nucleotide variantNM_006531.5(IFT88):c.698-8T>Anot provided [RCV002597341]uncertain significance132059944320599443Humanname
155919905CV1991147single nucleotide variantNM_006531.5(IFT88):c.-6-11G>Anot provided [RCV002614503]uncertain significance132057436920574369Humanname
156109452CV2072614single nucleotide variantNM_006531.5(IFT88):c.489+4A>Cnot provided [RCV002870835]uncertain significance132059624420596244Humanname
156215262CV2076685single nucleotide variantNM_006531.5(IFT88):c.-6-12A>Gnot provided [RCV002875648]uncertain significance132057436820574368Humanname
156158297CV2095013deletionNM_006531.5(IFT88):c.154-4delnot provided [RCV002890890]benign132058980420589804Humanname
156366080CV2177026single nucleotide variantNM_006531.5(IFT88):c.265-7T>Cnot provided [RCV003049356]uncertain significance132059161120591611Humanname
402516101CV2856732single nucleotide variantNM_006531.5(IFT88):c.595-4T>Gnot provided [RCV003575500]likely benign132059864720598647Humanname
405214715CV3078381single nucleotide variantNM_006531.5(IFT88):c.698-7A>Gnot provided [RCV003732405]likely benign132059944420599444Humanname
597916078CV3771499single nucleotide variantNM_006531.5(IFT88):c.264+1G>Tnot provided [RCV005114430]uncertain significance132059102120591021Humanname
597952157CV3847563single nucleotide variantNM_006531.5(IFT88):c.329-5C>Gnot provided [RCV005190545]uncertain significance132059233020592330Humanname
150457299CV1248764single nucleotide variantNM_006531.5(IFT88):c.-7+427A>Gnot provided [RCV001668940]benign132056768320567683Humanname
151867693CV1338217single nucleotide variantNM_006531.5(IFT88):c.-7+736A>Gnot provided [RCV001884740]uncertain significance132056799220567992Humanname
151844599CV1457860single nucleotide variantNM_006531.5(IFT88):c.1199+5G>Anot provided [RCV001936536]uncertain significance132061588420615884Humanname
151735350CV1508828deletionNM_006531.5(IFT88):c.1299+1delnot provided [RCV002021743]uncertain significance132062585020625850Humanname
152120890CV1521357single nucleotide variantNM_006531.5(IFT88):c.812+15A>Gnot provided [RCV002135694]likely benign132059958020599580Humanname
152150030CV1545500single nucleotide variantNM_006531.5(IFT88):c.399-11G>Cnot provided [RCV002121610]likely benign132059613920596139Humanname
152117265CV1566549single nucleotide variantNM_006531.5(IFT88):c.490-18G>Cnot provided [RCV002153813]benign132059699720596997Humanname
152104529CV1574805single nucleotide variantNM_006531.5(IFT88):c.697+15T>Cnot provided [RCV002095974]benign132059876820598768Humanname
152034590CV1584540single nucleotide variantNM_006531.5(IFT88):c.264+18A>Gnot provided [RCV002125121]likely benign132059103820591038Humanname
152086574CV1602320deletionNM_006531.5(IFT88):c.153+22delnot provided [RCV002113471]benign132058303420583034Humanname
152147043CV1615542duplicationNM_006531.5(IFT88):c.-7+765dupnot provided [RCV002101637]benign132056801320568014Humanname
152136749CV1625372single nucleotide variantNM_006531.5(IFT88):c.328+15C>Gnot provided [RCV002137640]likely benign132059169620591696Humanname
152099708CV1627315single nucleotide variantNM_006531.5(IFT88):c.-7+746C>Tnot provided [RCV002095356]likely benign132056800220568002Humanname
152114573CV1651313single nucleotide variantNM_006531.5(IFT88):c.490-16A>Gnot provided [RCV002153491]likely benign132059699920596999Humanname
152120128CV1654926single nucleotide variantNM_006531.5(IFT88):c.2354-9G>Anot provided [RCV002216663]benign132069104520691045Humanname
156117439CV1952451single nucleotide variantNM_006531.5(IFT88):c.399-19C>Tnot provided [RCV002571729]likely benign132059613120596131Humanname
156176470CV1953152single nucleotide variantNM_006531.5(IFT88):c.594+14T>Cnot provided [RCV002573977]likely benign132059713320597133Humanname
156373480CV1953538single nucleotide variantNM_006531.5(IFT88):c.153+15T>Anot provided [RCV002582609]likely benign132058303420583034Humanname
156213342CV1963113single nucleotide variantNM_006531.5(IFT88):c.490-12A>Gnot provided [RCV002575236]uncertain significance132059700320597003Humanname
156410867CV1965991single nucleotide variantNM_006531.5(IFT88):c.2068+9C>Tnot provided [RCV002587295]likely benign132065643920656439Humanname
156222871CV1981409single nucleotide variantNM_006531.5(IFT88):c.697+11A>Gnot provided [RCV002626510]likely benign132059876420598764Humanname
156249364CV1989035single nucleotide variantNM_006531.5(IFT88):c.399-17G>Anot provided [RCV002627399]likely benign132059613320596133Humanname
156229887CV1991766single nucleotide variantNM_006531.5(IFT88):c.399-18T>Gnot provided [RCV002626754]likely benign132059613220596132Humanname
156266106CV2011139single nucleotide variantNM_006531.5(IFT88):c.398+20G>Tnot provided [RCV002714821]likely benign132059242420592424Humanname
155955485CV2014274single nucleotide variantNM_006531.5(IFT88):c.-7+721A>Gnot provided [RCV002686243]uncertain significance132056797720567977Humanname
156282338CV2016407single nucleotide variantNM_006531.5(IFT88):c.812+12A>Gnot provided [RCV002715343]likely benign132059957720599577Humanname
156234216CV2021403single nucleotide variantNM_006531.5(IFT88):c.1683-5A>Gnot provided [RCV002745421]likely benign132064345020643450Humanname
156148942CV2022969single nucleotide variantNM_006531.5(IFT88):c.399-14T>Cnot provided [RCV002741160]likely benign132059613620596136Humanname
155910177CV2041152single nucleotide variantNM_006531.5(IFT88):c.2003-2A>Gnot provided [RCV002771524]uncertain significance132065636320656363Humanname
155906440CV2048195single nucleotide variantNM_006531.5(IFT88):c.153+14A>Tnot provided [RCV002771291]likely benign132058303320583033Humanname
156207188CV2076775single nucleotide variantNM_006531.5(IFT88):c.328+12T>Cnot provided [RCV002852688]likely benign132059169320591693Humanname
156249976CV2097992single nucleotide variantNM_006531.5(IFT88):c.265-15C>Tnot provided [RCV002895224]likely benign132059160320591603Humanname
156094225CV2102826single nucleotide variantNM_006531.5(IFT88):c.1950-4A>GIFT88-related disorder [RCV003961167]|not provided [RCV002913154]likely benign132065387220653872Humanname , trait , alternate_id
156210918CV2103295duplicationNM_006531.5(IFT88):c.1683-4dupnot provided [RCV002918158]likely benign132064345020643451Humanname
156225745CV2115182single nucleotide variantNM_006531.5(IFT88):c.264+16G>Anot provided [RCV002918744]likely benign132059103620591036Humanname
156091523CV2135569single nucleotide variantNM_006531.5(IFT88):c.2242+7A>Gnot provided [RCV003001850]likely benign132067104620671046Humanname
155943761CV2154524duplicationNM_006531.5(IFT88):c.2242+2dupnot provided [RCV003014438]uncertain significance132067104020671041Humanname
156309777CV2163962single nucleotide variantNM_006531.5(IFT88):c.595-17A>Gnot provided [RCV003045964]likely benign132059863420598634Humanname
156053436CV2165387single nucleotide variantNM_006531.5(IFT88):c.153+13A>Cnot provided [RCV003019476]likely benign132058303220583032Humanname
156019769CV2174076single nucleotide variantNM_006531.5(IFT88):c.1682+8A>Gnot provided [RCV003035669]likely benign132064140620641406Humanname
405195192CV2868705single nucleotide variantNM_006531.5(IFT88):c.1683-8T>Cnot provided [RCV003550780]likely benign132064344720643447Humanname
402501876CV2932280deletionNM_006531.5(IFT88):c.1042-6delnot provided [RCV003574021]benign132060502620605026Humanname
402515109CV2936277single nucleotide variantNM_006531.5(IFT88):c.210+17T>Cnot provided [RCV003662884]likely benign132058988420589884Humanname
405220924CV2965996single nucleotide variantNM_006531.5(IFT88):c.1113-6A>Tnot provided [RCV003680667]uncertain significance132061578720615787Humanname
405229233CV2973769single nucleotide variantNM_006531.5(IFT88):c.-7+739A>Gnot provided [RCV003681884]uncertain significance132056799520567995Humanname
405214658CV3078380single nucleotide variantNM_006531.5(IFT88):c.-7+751G>Anot provided [RCV003732404]likely benign132056800720568007Humanname
405094648CV3118984single nucleotide variantNM_006531.5(IFT88):c.399-20C>Gnot provided [RCV003811435]likely benign132059613020596130Humanname
405194988CV3146459single nucleotide variantNM_006531.5(IFT88):c.698-15A>Tnot provided [RCV003843814]likely benign132059943620599436Humanname
405248004CV3159203single nucleotide variantNM_006531.5(IFT88):c.1113-4A>Gnot provided [RCV003869348]likely benign132061578920615789Humanname
405244713CV3161579single nucleotide variantNM_006531.5(IFT88):c.1833+1G>Cnot provided [RCV003868292]uncertain significance132064360620643606Humanname
405234902CV3168529single nucleotide variantNM_006531.5(IFT88):c.1833+7G>Anot provided [RCV003866003]likely benign132064361220643612Humanname
405255456CV3172437single nucleotide variantNM_006531.5(IFT88):c.328+11C>Gnot provided [RCV003872375]likely benign132059169220591692Humanname
405259580CV3195104single nucleotide variantNM_006531.5(IFT88):c.2175+8A>CIFT88-related disorder [RCV003894301]likely benign132066361220663612Humanname , trait , alternate_id
408383154CV3504848single nucleotide variantNM_006531.5(IFT88):c.1299+1G>TIFT88-related disorder [RCV004730456]uncertain significance132062585020625850Humanname , trait , alternate_id
597839352CV3737008single nucleotide variantNM_006531.5(IFT88):c.329-16T>Cnot provided [RCV005064488]likely benign132059231920592319Humanname
597831967CV3740092single nucleotide variantNM_006531.5(IFT88):c.1682+6T>Gnot provided [RCV005062791]uncertain significance132064140420641404Humanname
597958304CV3755224single nucleotide variantNM_006531.5(IFT88):c.1574-1G>Anot provided [RCV005080894]uncertain significance132064128920641289Humanname
597845987CV3761641single nucleotide variantNM_006531.5(IFT88):c.329-18T>Cnot provided [RCV005087241]likely benign132059231720592317Humanname
597910381CV3782126single nucleotide variantNM_006531.5(IFT88):c.211-12T>Cnot provided [RCV005128618]uncertain significance132059095520590955Humanname
597951261CV3798315single nucleotide variantNM_006531.5(IFT88):c.812+10T>Cnot provided [RCV005136095]likely benign132059957520599575Humanname
597951509CV3798352single nucleotide variantNM_006531.5(IFT88):c.1041+1G>Cnot provided [RCV005136132]uncertain significance132060193420601934Humanname
597949085CV3818481single nucleotide variantNM_006531.5(IFT88):c.1682+2T>Cnot provided [RCV005160742]uncertain significance132064140020641400Humanname
597894540CV3833560single nucleotide variantNM_006531.5(IFT88):c.1683-3A>Gnot provided [RCV005180252]uncertain significance132064345220643452Humanname
597911075CV3854238single nucleotide variantNM_006531.5(IFT88):c.210+10T>Anot provided [RCV005203508]likely benign132058987720589877Humanname
152130151CV1519555single nucleotide variantNM_006531.5(IFT88):c.2069-17T>Gnot provided [RCV002155418]likely benign132066348120663481Humanname
152071304CV1552077single nucleotide variantNM_006531.5(IFT88):c.1200-16A>Gnot provided [RCV002148116]benign132062573420625734Humanname
152127872CV1554285single nucleotide variantNM_006531.5(IFT88):c.1387-17A>Gnot provided [RCV002176404]likely benign132063831520638315Humanname
152092953CV1567886single nucleotide variantNM_006531.5(IFT88):c.1573+18A>Gnot provided [RCV002212979]likely benign132063853620638536Humanname
152104150CV1574731single nucleotide variantNM_006531.5(IFT88):c.1199+12A>Gnot provided [RCV002095921]benign132061589120615891Humanname
152095271CV1597319single nucleotide variantNM_006531.5(IFT88):c.1113-16G>Tnot provided [RCV002114619]likely benign132061577720615777Humanname
152151472CV1598300single nucleotide variantNM_006531.5(IFT88):c.1041+12A>Gnot provided [RCV002121807]likely benign132060194520601945Humanname
152072986CV1615325single nucleotide variantNM_006531.5(IFT88):c.2175+14G>Anot provided [RCV002091846]likely benign132066361820663618Humanname
152074988CV1616586single nucleotide variantNM_006531.5(IFT88):c.1834-20A>Gnot provided [RCV002210474]benign132064482320644823Humanname
152111037CV1626063single nucleotide variantNM_006531.5(IFT88):c.1833+13T>Cnot provided [RCV002153057]likely benign132064361820643618Humanname
152131440CV1631127single nucleotide variantNM_006531.5(IFT88):c.2353+16C>Gnot provided [RCV002119139]likely benign132069083120690831Humanname
152139169CV1638056single nucleotide variantNM_006531.5(IFT88):c.1299+18T>Anot provided [RCV002177825]likely benign132062586720625867Humanname
152091087CV1662117single nucleotide variantNM_006531.5(IFT88):c.2068+18A>Cnot provided [RCV002132052]benign132065644820656448Humanname
152174417CV1662867single nucleotide variantNM_006531.5(IFT88):c.1683-20C>Tnot provided [RCV002163152]likely benign132064343520643435Humanname
156390207CV1869783duplicationNM_006531.5(IFT88):c.1386+12dupnot provided [RCV003067935]benign132063110720631108Humanname
156437346CV1937487single nucleotide variantNM_006531.5(IFT88):c.1299+10A>Tnot provided [RCV003106880]likely benign132062585920625859Humanname
156249924CV1953782deletionNM_006531.5(IFT88):c.1300-16delnot provided [RCV002576506]uncertain significance132063100020631000Humanname
156389940CV1955236single nucleotide variantNM_006531.5(IFT88):c.1300-12T>Cnot provided [RCV002583776]likely benign|uncertain significance132063100420631004Humanname
156373878CV1963164single nucleotide variantNM_006531.5(IFT88):c.1112+11A>Tnot provided [RCV002582637]likely benign132060511620605116Humanname
156416156CV1966497duplicationNM_006531.5(IFT88):c.1833+12dupnot provided [RCV002589556]likely benign132064361620643617Humanname
156355709CV1975104single nucleotide variantNM_006531.5(IFT88):c.1387-19G>Anot provided [RCV002602146]likely benign132063831320638313Humanname
156416209CV1984072single nucleotide variantNM_006531.5(IFT88):c.1386+16A>Gnot provided [RCV002610049]likely benign132063111820631118Humanname
156397526CV1985355single nucleotide variantNM_006531.5(IFT88):c.1834-17C>Gnot provided [RCV002635650]likely benign132064482620644826Humanname
156386657CV1986545single nucleotide variantNM_006531.5(IFT88):c.2002+13G>Anot provided [RCV002634658]likely benign132065394120653941Humanname
156351725CV1997791single nucleotide variantNM_006531.5(IFT88):c.2243-10G>Anot provided [RCV002675642]likely benign132069069520690695Humanname
156043964CV1999158single nucleotide variantNM_006531.5(IFT88):c.2353+15C>Tnot provided [RCV002659143]likely benign132069083020690830Humanname
155967223CV2034368single nucleotide variantNM_006531.5(IFT88):c.2243-11C>Tnot provided [RCV002731451]likely benign132069069420690694Humanname
156016557CV2035274single nucleotide variantNM_006531.5(IFT88):c.2175+10A>GIFT88-related disorder [RCV003903773]|not provided [RCV002780436]likely benign132066361420663614Humanname , trait , alternate_id
156213633CV2037089single nucleotide variantNM_006531.5(IFT88):c.1299+17A>Tnot provided [RCV002790344]likely benign132062586620625866Humanname
156322233CV2101119single nucleotide variantNM_006531.5(IFT88):c.1683-19T>Gnot provided [RCV002899379]likely benign132064343620643436Humanname
155925619CV2145042single nucleotide variantNM_006531.5(IFT88):c.1041+10A>Gnot provided [RCV003013391]likely benign132060194320601943Humanname
155912211CV2153360single nucleotide variantNM_006531.5(IFT88):c.1200-11T>Cnot provided [RCV003012339]likely benign132062573920625739Humanname
405026236CV2889849single nucleotide variantNM_006531.5(IFT88):c.2354-10C>Tnot provided [RCV003578001]likely benign132069104420691044Humanname
402506991CV2944385deletionNM_006531.5(IFT88):c.1386+18delnot provided [RCV003662161]likely benign132063112020631120Humanname
405184008CV2967494single nucleotide variantNM_006531.5(IFT88):c.2243-16A>Gnot provided [RCV003676567]likely benign132069068920690689Humanname
402483134CV3036635single nucleotide variantNM_006531.5(IFT88):c.2069-16A>Gnot provided [RCV003713048]likely benign132066348220663482Humanname
402484466CV3036682single nucleotide variantNM_006531.5(IFT88):c.1299+18T>Cnot provided [RCV003713080]likely benign132062586720625867Humanname
405151389CV3123394single nucleotide variantNM_006531.5(IFT88):c.1041+19T>Cnot provided [RCV003817627]likely benign132060195220601952Humanname
405061885CV3129606single nucleotide variantNM_006531.5(IFT88):c.1573+20A>Gnot provided [RCV003832875]likely benign132063853820638538Humanname
405186111CV3160147single nucleotide variantNM_006531.5(IFT88):c.2176-13C>Tnot provided [RCV003859202]likely benign132067096020670960Humanname
597859932CV3744704single nucleotide variantNM_006531.5(IFT88):c.1683-17A>Cnot provided [RCV005067249]uncertain significance132064343820643438Humanname
597960740CV3756260single nucleotide variantNM_006531.5(IFT88):c.1113-19T>Gnot provided [RCV005081577]likely benign132061577420615774Humanname
597949405CV3818556single nucleotide variantNM_006531.5(IFT88):c.2354-18A>Gnot provided [RCV005160817]likely benign132069103620691036Humanname
12896700CV390156single nucleotide variantNM_006531.5(IFT88):c.1300-15A>Tnot provided [RCV002056697]|not specified [RCV000455700]benign132063100120631001Humanname
152142331CV1587523single nucleotide variantNM_006531.5(IFT88):c.87C>T (p.Ile29=)not provided [RCV002138334]likely benign132057447220574472Humanname
156317049CV1975055single nucleotide variantNM_006531.5(IFT88):c.54C>T (p.Ser18=)not provided [RCV002630123]likely benign132057443920574439Humanname
155964736CV2137118single nucleotide variantNM_006531.5(IFT88):c.66C>T (p.Asp22=)not provided [RCV003015642]likely benign132057445120574451Humanname
405214838CV2876014single nucleotide variantNM_006531.5(IFT88):c.1A>G (p.Met1Val)not provided [RCV003553082]uncertain significance132057438620574386Humanname
405217127CV2978282microsatelliteNM_006531.5(IFT88):c.398+26_398+35delnot provided [RCV003709466]likely benign132059242020592429Humanname
597966622CV3823834duplicationNM_006531.5(IFT88):c.399-15_399-12dupnot provided [RCV005165254]likely benign132059613420596135Humanname
152139135CV1563610single nucleotide variantNM_006531.5(IFT88):c.246A>C (p.Pro82=)not provided [RCV002200348]benign132059100220591002Humanname
152120207CV1576161single nucleotide variantNM_006531.5(IFT88):c.270A>G (p.Gly90=)not provided [RCV002197946]likely benign132059162320591623Humanname
156019009CV1909342single nucleotide variantNM_006531.5(IFT88):c.243A>G (p.Arg81=)not provided [RCV002619295]likely benign132059099920590999Humanname
156287885CV1964718microsatelliteNM_006531.5(IFT88):c.1574-11_1574-9delnot provided [RCV002577711]likely benign132064127420641276Humanname
156338204CV1997375single nucleotide variantNM_006531.5(IFT88):c.177G>A (p.Thr59=)not provided [RCV002650180]likely benign132058983420589834Humanname
156199677CV2024493single nucleotide variantNM_006531.5(IFT88):c.18C>G (p.His6Gln)not provided [RCV002711358]uncertain significance132057440320574403Humanname
401745302CV2693227single nucleotide variantNM_006531.5(IFT88):c.25C>T (p.Pro9Ser)not specified [RCV004295202]uncertain significance132057441020574410Humanname
405238053CV2881185single nucleotide variantNM_006531.5(IFT88):c.135T>C (p.Ser45=)not provided [RCV003556684]likely benign132058300120583001Humanname
405172484CV3122840single nucleotide variantNM_006531.5(IFT88):c.210G>A (p.Gly70=)not provided [RCV003819238]uncertain significance132058986720589867Humanname
597911924CV3834195single nucleotide variantNM_006531.5(IFT88):c.213C>T (p.Ser71=)not provided [RCV005182957]uncertain significance132059096920590969Humanname
152114737CV1574977deletionNM_006531.5(IFT88):c.2003-14_2003-13delnot provided [RCV002117030]benign132065635120656352Humanname
152153287CV1577833single nucleotide variantNM_006531.5(IFT88):c.86T>C (p.Ile29Thr)IFT88-related disorder [RCV003958681]|not provided [RCV002122063]likely benign132057447120574471Humanname , trait , alternate_id
152090074CV1593987single nucleotide variantNM_006531.5(IFT88):c.522A>G (p.Lys174=)IFT88-related disorder [RCV003933647]|not provided [RCV002171707]likely benign132059704720597047Humanname , trait , alternate_id
152059400CV1597599single nucleotide variantNM_006531.5(IFT88):c.882A>G (p.Ser294=)not provided [RCV002128162]likely benign132060177420601774Humanname
152033227CV1610308deletionNM_006531.5(IFT88):c.1199+11_1199+12delnot provided [RCV002124894]benign132061588920615890Humanname
152098735CV1650407single nucleotide variantNM_006531.5(IFT88):c.492C>G (p.Ala164=)not provided [RCV002115048]likely benign132059701720597017Humanname
152058059CV1656631single nucleotide variantNM_006531.5(IFT88):c.720A>G (p.Gly240=)not provided [RCV002109785]likely benign132059947320599473Humanname
155954459CV1915271single nucleotide variantNM_006531.5(IFT88):c.92A>T (p.Glu31Val)not provided [RCV002616399]|not specified [RCV004070545]uncertain significance132058295820582958Humanname
156418680CV1918619single nucleotide variantNM_006531.5(IFT88):c.88G>A (p.Glu30Lys)not provided [RCV002611882]uncertain significance132057447320574473Humanname
156419111CV1929427single nucleotide variantNM_006531.5(IFT88):c.924C>G (p.Gly308=)not provided [RCV002612329]likely benign132060181620601816Humanname
156088717CV1953458deletionNM_006531.5(IFT88):c.1574-20_1574-15delnot provided [RCV002570148]likely benign132064126820641273Humanname
156002881CV1987940single nucleotide variantNM_006531.5(IFT88):c.606T>C (p.Asn202=)not provided [RCV002618534]likely benign132059866220598662Humanname
156364784CV2003484deletionNM_006531.5(IFT88):c.1386+17_1386+21delnot provided [RCV002676483]likely benign132063111920631123Humanname
156122587CV2020907single nucleotide variantNM_006531.5(IFT88):c.348T>C (p.Leu116=)not provided [RCV002740256]likely benign132059235420592354Humanname
155904421CV2031333single nucleotide variantNM_006531.5(IFT88):c.68A>G (p.Tyr23Cys)not provided [RCV002726381]uncertain significance132057445320574453Humanname
156202525CV2076548single nucleotide variantNM_006531.5(IFT88):c.435A>G (p.Val145=)not provided [RCV002852518]likely benign132059618620596186Humanname
155903323CV2127098single nucleotide variantNM_006531.5(IFT88):c.360G>A (p.Arg120=)not provided [RCV002967554]likely benign132059236620592366Humanname
156304179CV2129662single nucleotide variantNM_006531.5(IFT88):c.91G>A (p.Glu31Lys)not provided [RCV002962282]uncertain significance132058295720582957Humanname
155945747CV2130214single nucleotide variantNM_006531.5(IFT88):c.420A>G (p.Gln140=)not provided [RCV002971570]likely benign132059617120596171Humanname
156349661CV2146952single nucleotide variantNM_006531.5(IFT88):c.79T>G (p.Tyr27Asp)not provided [RCV003030771]uncertain significance132057446420574464Humanname
156229170CV2164907deletionNM_006531.5(IFT88):c.1042-16_1042-15delnot provided [RCV003043017]likely benign132060501920605020Humanname
156356742CV2188930single nucleotide variantNM_006531.5(IFT88):c.80A>C (p.Tyr27Ser)not provided [RCV003048740]uncertain significance132057446520574465Humanname
401755489CV2682501single nucleotide variantNM_006531.5(IFT88):c.74C>T (p.Pro25Leu)not specified [RCV004290521]uncertain significance132057445920574459Humanname
402506811CV2982452single nucleotide variantNM_006531.5(IFT88):c.513A>C (p.Ala171=)not provided [RCV003689135]likely benign132059703820597038Humanname
404989381CV2998675single nucleotide variantNM_006531.5(IFT88):c.444G>A (p.Leu148=)not provided [RCV003692141]likely benign132059619520596195Humanname
405245118CV3054939single nucleotide variantNM_006531.5(IFT88):c.933A>C (p.Leu311=)not provided [RCV003720197]likely benign132060182520601825Humanname
405207886CV3064729single nucleotide variantNM_006531.5(IFT88):c.71A>G (p.Asn24Ser)not provided [RCV003731572]|not specified [RCV004374174]uncertain significance132057445620574456Humanname
405266110CV3221046single nucleotide variantNM_006531.5(IFT88):c.660T>C (p.Tyr220=)IFT88-related disorder [RCV003969178]|not provided [RCV005102983]likely benign132059871620598716Humanname , trait , alternate_id
408367003CV3511437single nucleotide variantNM_006531.5(IFT88):c.744T>C (p.Asn248=)IFT88-related disorder [RCV004757736]|not provided [RCV005103768]likely benign132059949720599497Humanname , trait , alternate_id
597832341CV3740175single nucleotide variantNM_006531.5(IFT88):c.648A>C (p.Ala216=)not provided [RCV005062874]likely benign132059870420598704Humanname
597920709CV3811847deletionNM_006531.5(IFT88):c.1041+15_1041+16delnot provided [RCV005155678]likely benign132060194720601948Humanname
597968904CV3821299single nucleotide variantNM_006531.5(IFT88):c.62A>G (p.Asn21Ser)not provided [RCV005165941]uncertain significance132057444720574447Humanname
597911520CV3826145single nucleotide variantNM_006531.5(IFT88):c.450A>G (p.Glu150=)not provided [RCV005182881]likely benign132059620120596201Humanname
597963915CV3837796single nucleotide variantNM_006531.5(IFT88):c.801T>C (p.Asn267=)not provided [RCV005193779]likely benign132059955420599554Humanname
598268682CV3979381single nucleotide variantNM_006531.5(IFT88):c.59A>G (p.Tyr20Cys)not specified [RCV005349755]uncertain significance132057444420574444Humanname
15117919CV713864single nucleotide variantNM_006531.5(IFT88):c.315A>G (p.Lys105=)not provided [RCV000962284]benign132059166820591668Humanname
151821562CV1354967single nucleotide variantNM_006531.5(IFT88):c.1203C>T (p.Cys401=)IFT88-related disorder [RCV003923378]|not provided [RCV001934195]likely benign|uncertain significance132062575320625753Humanname , trait , alternate_id
151738887CV1379268single nucleotide variantNM_006531.5(IFT88):c.2298C>T (p.Leu766=)not provided [RCV001911730]likely benign132069076020690760Humanname
151717291CV1380382single nucleotide variantNM_006531.5(IFT88):c.215A>C (p.Lys72Thr)not provided [RCV002003112]uncertain significance132059097120590971Humanname
151827539CV1396381single nucleotide variantNM_006531.5(IFT88):c.259A>G (p.Ile87Val)not provided [RCV001934729]uncertain significance132059101520591015Humanname
152082174CV1525116single nucleotide variantNM_006531.5(IFT88):c.1197T>C (p.Asp399=)not provided [RCV002130959]likely benign132061587720615877Humanname
152027566CV1529487single nucleotide variantNM_006531.5(IFT88):c.2073G>A (p.Leu691=)not provided [RCV002185545]benign132066350220663502Humanname
152032341CV1548976single nucleotide variantNM_006531.5(IFT88):c.1644A>G (p.Leu548=)not provided [RCV002086558]likely benign132064136020641360Humanname
152081054CV1554590single nucleotide variantNM_006531.5(IFT88):c.1740T>C (p.Ser580=)not provided [RCV002193024]likely benign132064351220643512Humanname
152090497CV1580836single nucleotide variantNM_006531.5(IFT88):c.1836A>G (p.Ser612=)not provided [RCV002094104]benign132064484520644845Humanname
152035370CV1584932single nucleotide variantNM_006531.5(IFT88):c.2284C>T (p.Leu762=)not provided [RCV002125239]likely benign132069074620690746Humanname
152174536CV1591169single nucleotide variantNM_006531.5(IFT88):c.2454A>G (p.Gly818=)not provided [RCV002184545]benign132069115420691154Humanname
152026890CV1593596single nucleotide variantNM_006531.5(IFT88):c.1107T>C (p.Arg369=)not provided [RCV002104709]likely benign132060510020605100Humanname
152175199CV1602023single nucleotide variantNM_006531.5(IFT88):c.1509C>A (p.Ala503=)not provided [RCV002163414]likely benign132063845420638454Humanname
152162431CV1606314single nucleotide variantNM_006531.5(IFT88):c.1279A>C (p.Arg427=)not provided [RCV002181158]likely benign132062582920625829Humanname
152147077CV1608103single nucleotide variantNM_006531.5(IFT88):c.244C>T (p.Pro82Ser)not provided [RCV002178884]benign132059100020591000Humanname
152090299CV1634150single nucleotide variantNM_006531.5(IFT88):c.1656C>T (p.Ala552=)not provided [RCV002194207]likely benign132064137220641372Humanname
152026168CV1639306single nucleotide variantNM_006531.5(IFT88):c.1272A>T (p.Thr424=)not provided [RCV002185061]likely benign132062582220625822Humanname
152034593CV1639509single nucleotide variantNM_006531.5(IFT88):c.2238C>T (p.Ser746=)IFT88-related disorder [RCV003968760]|not provided [RCV002187282]benign132067103520671035Humanname , trait , alternate_id
152038922CV1647878single nucleotide variantNM_006531.5(IFT88):c.1356T>C (p.Ala452=)not provided [RCV002087662]likely benign132063107220631072Humanname
152083763CV1647940single nucleotide variantNM_006531.5(IFT88):c.1134T>C (p.Tyr378=)not provided [RCV002076716]benign132061581420615814Humanname
152028337CV1655186single nucleotide variantNM_006531.5(IFT88):c.250A>G (p.Thr84Ala)IFT88-related disorder [RCV003903362]|not provided [RCV002105199]likely benign132059100620591006Humanname , trait , alternate_id
152067433CV1660101single nucleotide variantNM_006531.5(IFT88):c.2416A>C (p.Arg806=)not provided [RCV002147620]likely benign132069111620691116Humanname
156319818CV1897744single nucleotide variantNM_006531.5(IFT88):c.1020A>G (p.Glu340=)not provided [RCV002579169]likely benign132060191220601912Humanname
156362256CV1905072single nucleotide variantNM_006531.5(IFT88):c.283A>G (p.Met95Val)not provided [RCV002602582]uncertain significance132059163620591636Humanname
155953699CV1915205single nucleotide variantNM_006531.5(IFT88):c.226G>A (p.Ala76Thr)not provided [RCV002616362]likely benign132059098220590982Humanname
156405247CV1919255single nucleotide variantNM_006531.5(IFT88):c.259A>C (p.Ile87Leu)not provided [RCV002585604]uncertain significance132059101520591015Humanname
156203151CV1925848single nucleotide variantNM_006531.5(IFT88):c.1617C>T (p.Asp539=)not provided [RCV002643710]likely benign132064133320641333Humanname
156444060CV1937577single nucleotide variantNM_006531.5(IFT88):c.1972C>T (p.Leu658=)not provided [RCV003114978]likely benign132065389820653898Humanname
156408824CV1954533single nucleotide variantNM_006531.5(IFT88):c.266A>T (p.Asp89Val)not provided [RCV002586627]uncertain significance132059161920591619Humanname
156231780CV1956039single nucleotide variantNM_006531.5(IFT88):c.1767A>G (p.Leu589=)not provided [RCV002575900]likely benign132064353920643539Humanname
156071021CV1959228single nucleotide variantNM_006531.5(IFT88):c.1473G>A (p.Gly491=)not provided [RCV002569604]likely benign132063841820638418Humanname
156354265CV1962256single nucleotide variantNM_006531.5(IFT88):c.206A>T (p.Tyr69Phe)not provided [RCV002581279]uncertain significance132058986320589863Humanname
156419887CV1967625single nucleotide variantNM_006531.5(IFT88):c.1581C>T (p.Thr527=)not provided [RCV002613134]likely benign132064129720641297Humanname
156384470CV1971800single nucleotide variantNM_006531.5(IFT88):c.1329A>G (p.Lys443=)not provided [RCV002604201]likely benign132063104520631045Humanname
155966783CV1974287single nucleotide variantNM_006531.5(IFT88):c.176C>T (p.Thr59Met)not provided [RCV002616993]uncertain significance132058983320589833Humanname
156082142CV1982886single nucleotide variantNM_006531.5(IFT88):c.1593A>G (p.Leu531=)IFT88-related disorder [RCV003961098]|not provided [RCV002638934]likely benign132064130920641309Humanname , trait , alternate_id
156145590CV2002967single nucleotide variantNM_006531.5(IFT88):c.218C>T (p.Thr73Ile)not provided [RCV002663728]uncertain significance132059097420590974Humanname
155912549CV2021763single nucleotide variantNM_006531.5(IFT88):c.110C>G (p.Ala37Gly)not provided [RCV002726911]|not specified [RCV004067750]uncertain significance132058297620582976Humanname
156016405CV2035237single nucleotide variantNM_006531.5(IFT88):c.2262T>C (p.Ser754=)not provided [RCV002780428]likely benign132069072420690724Humanname
156002333CV2045640single nucleotide variantNM_006531.5(IFT88):c.1119C>T (p.Ala373=)not provided [RCV002756268]uncertain significance132061579920615799Humanname
155986965CV2056169single nucleotide variantNM_006531.5(IFT88):c.124G>A (p.Val42Met)not provided [RCV002819024]|not specified [RCV004927857]uncertain significance132058299020582990Humanname
156203767CV2076603duplicationNM_006531.5(IFT88):c.309dup (p.Thr104fs)not provided [RCV002852560]uncertain significance132059165820591659Humanname
156207128CV2103801single nucleotide variantNM_006531.5(IFT88):c.2064C>T (p.Val688=)IFT88-related disorder [RCV003926516]|not provided [RCV002931909]benign|likely benign132065642620656426Humanname , trait , alternate_id
156214764CV2106988single nucleotide variantNM_006531.5(IFT88):c.1590A>G (p.Lys530=)not provided [RCV002918314]likely benign132064130620641306Humanname
155940999CV2119845single nucleotide variantNM_006531.5(IFT88):c.1509C>T (p.Ala503=)not provided [RCV002971284]likely benign132063845420638454Humanname
155995092CV2122521single nucleotide variantNM_006531.5(IFT88):c.2286A>G (p.Leu762=)not provided [RCV002974911]likely benign132069074820690748Humanname
156026176CV2131304single nucleotide variantNM_006531.5(IFT88):c.2358C>T (p.Ala786=)not provided [RCV002976397]likely benign132069105820691058Humanname
156085532CV2144899single nucleotide variantNM_006531.5(IFT88):c.1320G>T (p.Val440=)not provided [RCV003020495]likely benign132063103620631036Humanname
156017279CV2155210single nucleotide variantNM_006531.5(IFT88):c.266A>G (p.Asp89Gly)not provided [RCV003018056]uncertain significance132059161920591619Humanname
156128733CV2158624single nucleotide variantNM_006531.5(IFT88):c.257C>G (p.Ala86Gly)not provided [RCV003022092]uncertain significance132059101320591013Humanname
156298836CV2159477single nucleotide variantNM_006531.5(IFT88):c.194T>C (p.Ile65Thr)not provided [RCV003045454]uncertain significance132058985120589851Humanname
155917194CV2202254single nucleotide variantNM_006531.5(IFT88):c.235A>G (p.Ile79Val)not provided [RCV005059204]|not specified [RCV004078194]uncertain significance132059099120590991Humanname
155944879CV2291870single nucleotide variantNM_006531.5(IFT88):c.227C>T (p.Ala76Val)not specified [RCV004158393]uncertain significance132059098320590983Humanname
401782946CV2716056single nucleotide variantNM_006531.5(IFT88):c.134G>T (p.Ser45Ile)not specified [RCV004323305]uncertain significance132058300020583000Humanname
405074739CV2872958single nucleotide variantNM_006531.5(IFT88):c.1176A>G (p.Thr392=)not provided [RCV003548638]likely benign132061585620615856Humanname
405127178CV2883030single nucleotide variantNM_006531.5(IFT88):c.2439T>C (p.Ala813=)not provided [RCV003559684]likely benign132069113920691139Humanname
405231227CV2964591single nucleotide variantNM_006531.5(IFT88):c.2418G>A (p.Arg806=)not provided [RCV003682291]likely benign132069111820691118Humanname
405220616CV2969766single nucleotide variantNM_006531.5(IFT88):c.197C>G (p.Ala66Gly)not provided [RCV003680623]uncertain significance132058985420589854Humanname
405227793CV2980541single nucleotide variantNM_006531.5(IFT88):c.1887T>C (p.Tyr629=)not provided [RCV003711004]likely benign132064489620644896Humanname
405224116CV2982995deletionNM_006531.5(IFT88):c.569del (p.Asn190fs)not provided [RCV003681137]uncertain significance132059709120597091Humanname
405227199CV3039593single nucleotide variantNM_006531.5(IFT88):c.1188A>G (p.Ala396=)not provided [RCV003710909]uncertain significance132061586820615868Humanname
405142407CV3055973single nucleotide variantNM_006531.5(IFT88):c.1383T>C (p.Tyr461=)not provided [RCV003725766]likely benign132063109920631099Humanname
405212820CV3078102single nucleotide variantNM_006531.5(IFT88):c.1752C>T (p.Thr584=)not provided [RCV003732246]likely benign132064352420643524Humanname
405192184CV3145999single nucleotide variantNM_006531.5(IFT88):c.1635C>T (p.His545=)not provided [RCV003843546]likely benign132064135120641351Humanname
405057003CV3151504single nucleotide variantNM_006531.5(IFT88):c.247A>G (p.Met83Val)not provided [RCV003849914]uncertain significance132059100320591003Humanname
405221226CV3154733single nucleotide variantNM_006531.5(IFT88):c.1668C>T (p.Tyr556=)not provided [RCV003847228]likely benign132064138420641384Humanname
405248586CV3169666single nucleotide variantNM_006531.5(IFT88):c.135T>G (p.Ser45Arg)not provided [RCV003869479]uncertain significance132058300120583001Humanname
405277811CV3196175single nucleotide variantNM_006531.5(IFT88):c.1902A>G (p.Gln634=)IFT88-related disorder [RCV003904689]likely benign132064491120644911Humanname , trait , alternate_id
597922743CV3738538single nucleotide variantNM_006531.5(IFT88):c.1053T>C (p.His351=)not provided [RCV005074946]likely benign132060504620605046Humanname
597959358CV3752284single nucleotide variantNM_006531.5(IFT88):c.245C>G (p.Pro82Arg)not provided [RCV005081234]uncertain significance132059100120591001Humanname
597920548CV3765138single nucleotide variantNM_006531.5(IFT88):c.2064C>A (p.Val688=)not provided [RCV005115155]likely benign132065642620656426Humanname
597921482CV3777363single nucleotide variantNM_006531.5(IFT88):c.1326A>G (p.Glu442=)not provided [RCV005130292]likely benign132063104220631042Humanname
597933714CV3793446single nucleotide variantNM_006531.5(IFT88):c.129G>T (p.Arg43Ser)not provided [RCV005132102]uncertain significance132058299520582995Humanname
597961168CV3794840single nucleotide variantNM_006531.5(IFT88):c.2293A>C (p.Arg765=)not provided [RCV005138745]likely benign132069075520690755Humanname
597875273CV3813097single nucleotide variantNM_006531.5(IFT88):c.1341A>G (p.Arg447=)not provided [RCV005149033]likely benign132063105720631057Humanname
597878375CV3813677single nucleotide variantNM_006531.5(IFT88):c.2397A>C (p.Pro799=)not provided [RCV005149419]likely benign132069109720691097Humanname
597947664CV3817929deletionNM_006531.5(IFT88):c.420del (p.Gln140fs)not provided [RCV005160396]uncertain significance132059617020596170Humanname
597908690CV3829948single nucleotide variantNM_006531.5(IFT88):c.1488A>G (p.Ala496=)not provided [RCV005182517]likely benign132063843320638433Humanname
127237952CV1054104duplicationNM_006531.5(IFT88):c.1082dup (p.Asn361fs)Rod-cone dystrophy [RCV001376433]|not provided [RCV001871991]likely pathogenic|uncertain significance132060506920605070Human3name
151841792CV1379534single nucleotide variantNM_006531.5(IFT88):c.356C>T (p.Ser119Leu)not provided [RCV001936211]uncertain significance132059236220592362Humanname
151889486CV1398835single nucleotide variantNM_006531.5(IFT88):c.962G>A (p.Arg321Gln)not provided [RCV001942814]uncertain significance132060185420601854Humanname
151743451CV1431751single nucleotide variantNM_006531.5(IFT88):c.715A>G (p.Met239Val)not provided [RCV001926698]uncertain significance132059946820599468Humanname
151821292CV1453563single nucleotide variantNM_006531.5(IFT88):c.373C>T (p.Pro125Ser)not provided [RCV001879238]uncertain significance132059237920592379Humanname
151769320CV1458017single nucleotide variantNM_006531.5(IFT88):c.552A>C (p.Gln184His)not provided [RCV001950002]|not specified [RCV004927761]uncertain significance132059707720597077Humanname
151790371CV1475283single nucleotide variantNM_006531.5(IFT88):c.652A>T (p.Asn218Tyr)not provided [RCV001972994]uncertain significance132059870820598708Humanname
151871976CV1487795single nucleotide variantNM_006531.5(IFT88):c.888G>C (p.Glu296Asp)not provided [RCV001981418]uncertain significance132060178020601780Humanname
151769916CV1504106deletionNM_006531.5(IFT88):c.1250del (p.Leu417fs)not provided [RCV002045146]uncertain significance132062580020625800Humanname
151728902CV1515217single nucleotide variantNM_006531.5(IFT88):c.354G>T (p.Gln118His)not provided [RCV002040992]uncertain significance132059236020592360Humanname
152095001CV1521025single nucleotide variantNM_006531.5(IFT88):c.770G>A (p.Arg257Gln)IFT88-related disorder [RCV003950992]|not provided [RCV002078223]likely benign132059952320599523Humanname , trait , alternate_id
152111542CV1551498single nucleotide variantNM_006531.5(IFT88):c.342C>A (p.Asp114Glu)not provided [RCV002196840]likely benign132059234820592348Humanname
152067722CV1600306single nucleotide variantNM_006531.5(IFT88):c.346C>T (p.Leu116Phe)IFT88-related disorder [RCV003911338]|not provided [RCV002111019]benign132059235220592352Humanname , trait , alternate_id
156185592CV1885740single nucleotide variantNM_006531.5(IFT88):c.360G>C (p.Arg120Ser)not provided [RCV003083702]uncertain significance132059236620592366Humanname
156285017CV1897057single nucleotide variantNM_006531.5(IFT88):c.643G>A (p.Glu215Lys)not provided [RCV003087253]uncertain significance132059869920598699Humanname
156033908CV1921263single nucleotide variantNM_006531.5(IFT88):c.878A>G (p.Asn293Ser)not provided [RCV002619971]|not specified [RCV004069081]uncertain significance132060177020601770Humanname
156293170CV1926141single nucleotide variantNM_006531.5(IFT88):c.553G>A (p.Val185Ile)not provided [RCV002647283]uncertain significance132059707820597078Humanname
156438870CV1947790single nucleotide variantNM_006531.5(IFT88):c.784C>T (p.Gln262Ter)not provided [RCV003108818]uncertain significance132059953720599537Humanname
156301009CV1955567single nucleotide variantNM_006531.5(IFT88):c.428A>G (p.Lys143Arg)not provided [RCV002578227]uncertain significance132059617920596179Humanname
156323462CV1976359single nucleotide variantNM_006531.5(IFT88):c.625G>A (p.Val209Ile)not provided [RCV002600381]uncertain significance132059868120598681Humanname
156308372CV1976734single nucleotide variantNM_006531.5(IFT88):c.683T>C (p.Met228Thr)not provided [RCV002578557]uncertain significance132059873920598739Humanname
156097310CV1981037single nucleotide variantNM_006531.5(IFT88):c.353A>G (p.Gln118Arg)not provided [RCV002622082]uncertain significance132059235920592359Humanname
156392993CV1987835single nucleotide variantNM_006531.5(IFT88):c.718G>C (p.Gly240Arg)not provided [RCV002635168]uncertain significance132059947120599471Humanname
156176063CV2000415single nucleotide variantNM_006531.5(IFT88):c.598C>T (p.Leu200Phe)not provided [RCV002642875]|not specified [RCV004632041]uncertain significance132059865420598654Humanname
156284648CV2001623single nucleotide variantNM_006531.5(IFT88):c.661C>G (p.Gln221Glu)not provided [RCV002646963]uncertain significance132059871720598717Humanname
156161000CV2009505single nucleotide variantNM_006531.5(IFT88):c.544C>T (p.Arg182Ter)not provided [RCV002710170]uncertain significance132059706920597069Humanname
156084140CV2023732single nucleotide variantNM_006531.5(IFT88):c.746A>T (p.Tyr249Phe)not provided [RCV002760723]uncertain significance132059949920599499Humanname
156045039CV2026556single nucleotide variantNM_006531.5(IFT88):c.740G>T (p.Arg247Ile)not provided [RCV002736321]uncertain significance132059949320599493Humanname
156037616CV2030095single nucleotide variantNM_006531.5(IFT88):c.901A>T (p.Met301Leu)not provided [RCV002736058]uncertain significance132060179320601793Humanname
156330068CV2061274single nucleotide variantNM_006531.5(IFT88):c.841A>G (p.Thr281Ala)not provided [RCV002810627]uncertain significance132060173320601733Humanname
155971625CV2062509single nucleotide variantNM_006531.5(IFT88):c.757A>G (p.Ile253Val)not provided [RCV002842106]uncertain significance132059951020599510Humanname
155951398CV2076405single nucleotide variantNM_006531.5(IFT88):c.928A>C (p.Asn310His)not provided [RCV002862366]uncertain significance132060182020601820Humanname
156049418CV2093445single nucleotide variantNM_006531.5(IFT88):c.659A>G (p.Tyr220Cys)not provided [RCV002867736]uncertain significance132059871520598715Humanname
156035574CV2123231single nucleotide variantNM_006531.5(IFT88):c.937A>G (p.Ile313Val)not provided [RCV002949414]|not specified [RCV004068291]uncertain significance132060182920601829Humanname
156300919CV2129492single nucleotide variantNM_006531.5(IFT88):c.901A>G (p.Met301Val)not provided [RCV002962140]uncertain significance132060179320601793Humanname
155964485CV2134701single nucleotide variantNM_006531.5(IFT88):c.904G>T (p.Ala302Ser)not provided [RCV002972542]uncertain significance132060179620601796Humanname
155945633CV2139421single nucleotide variantNM_006531.5(IFT88):c.874A>G (p.Ile292Val)not provided [RCV002994325]uncertain significance132060176620601766Humanname
156224746CV2144417single nucleotide variantNM_006531.5(IFT88):c.889C>A (p.His297Asn)not provided [RCV003007518]uncertain significance132060178120601781Humanname
156083590CV2144651single nucleotide variantNM_006531.5(IFT88):c.814A>G (p.Ile272Val)not provided [RCV003020433]uncertain significance132060170620601706Humanname
155921862CV2148483single nucleotide variantNM_006531.5(IFT88):c.460A>G (p.Ile154Val)not provided [RCV003013226]uncertain significance132059621120596211Humanname
156188443CV2148535single nucleotide variantNM_006531.5(IFT88):c.818A>C (p.Lys273Thr)not provided [RCV003005926]uncertain significance132060171020601710Humanname
156018799CV2151618single nucleotide variantNM_006531.5(IFT88):c.881C>T (p.Ser294Leu)not provided [RCV003018127]uncertain significance132060177320601773Humanname
155989726CV2170417single nucleotide variantNM_006531.5(IFT88):c.683T>G (p.Met228Arg)not provided [RCV003034272]uncertain significance132059873920598739Humanname
156360303CV2184120single nucleotide variantNM_006531.5(IFT88):c.815T>G (p.Ile272Ser)not provided [RCV003048978]uncertain significance132060170720601707Humanname
156368083CV2190448single nucleotide variantNM_006531.5(IFT88):c.899G>C (p.Ser300Thr)not provided [RCV003066088]uncertain significance132060179120601791Humanname
156133227CV2216731single nucleotide variantNM_006531.5(IFT88):c.979G>A (p.Ala327Thr)not specified [RCV004083179]uncertain significance132060187120601871Humanname
401757913CV2708027single nucleotide variantNM_006531.5(IFT88):c.638A>T (p.Tyr213Phe)not specified [RCV004309275]uncertain significance132059869420598694Humanname
401867235CV2777080single nucleotide variantNM_006531.5(IFT88):c.641C>T (p.Ala214Val)not specified [RCV004351866]uncertain significance132059869720598697Humanname
402464575CV2916340single nucleotide variantNM_006531.5(IFT88):c.886G>A (p.Glu296Lys)not provided [RCV003569043]uncertain significance132060177820601778Humanname
405084232CV2946459single nucleotide variantNM_006531.5(IFT88):c.684G>A (p.Met228Ile)not provided [RCV003664837]uncertain significance132059874020598740Humanname
402499759CV2946785single nucleotide variantNM_006531.5(IFT88):c.865T>G (p.Ser289Ala)not provided [RCV003661386]uncertain significance132060175720601757Humanname
402479401CV2990885single nucleotide variantNM_006531.5(IFT88):c.934A>T (p.Thr312Ser)not provided [RCV003686438]uncertain significance132060182620601826Humanname
402496888CV3005947single nucleotide variantNM_006531.5(IFT88):c.305G>A (p.Gly102Asp)not provided [RCV003688098]uncertain significance132059165820591658Humanname
405046897CV3017836single nucleotide variantNM_006531.5(IFT88):c.953T>C (p.Ile318Thr)not provided [RCV003696658]uncertain significance132060184520601845Humanname
405058835CV3019842single nucleotide variantNM_006531.5(IFT88):c.479A>C (p.Asp160Ala)not provided [RCV003697536]uncertain significance132059623020596230Humanname
405180111CV3119823single nucleotide variantNM_006531.5(IFT88):c.991T>A (p.Leu331Met)not provided [RCV003819916]uncertain significance132060188320601883Humanname
405217969CV3139527duplicationNM_006531.5(IFT88):c.1423dup (p.Ile475fs)not provided [RCV003824218]uncertain significance132063836720638368Humanname
405243453CV3164832single nucleotide variantNM_006531.5(IFT88):c.896T>C (p.Met299Thr)not provided [RCV003867913]uncertain significance132060178820601788Humanname
405793025CV3263907single nucleotide variantNM_006531.5(IFT88):c.551A>G (p.Gln184Arg)not specified [RCV004400377]uncertain significance132059707620597076Humanname
597764109CV3680018single nucleotide variantNM_006531.5(IFT88):c.668T>C (p.Ile223Thr)not specified [RCV004926510]uncertain significance132059872420598724Humanname
597764118CV3680020single nucleotide variantNM_006531.5(IFT88):c.851A>G (p.Gln284Arg)not specified [RCV004926512]uncertain significance132060174320601743Humanname
597887166CV3741902single nucleotide variantNM_006531.5(IFT88):c.995T>C (p.Ile332Thr)not provided [RCV005070622]uncertain significance132060188720601887Humanname
597928371CV3749128single nucleotide variantNM_006531.5(IFT88):c.952A>G (p.Ile318Val)not provided [RCV005075584]uncertain significance132060184420601844Humanname
597858042CV3769578single nucleotide variantNM_006531.5(IFT88):c.388A>G (p.Lys130Glu)not provided [RCV005105620]uncertain significance132059239420592394Humanname
597953738CV3844253single nucleotide variantNM_006531.5(IFT88):c.572T>C (p.Ile191Thr)not provided [RCV005190925]uncertain significance132059709720597097Humanname
597861182CV3850746duplicationNM_006531.5(IFT88):c.1462dup (p.Thr488fs)not provided [RCV005195879]uncertain significance132063840620638407Humanname
597903961CV3856280single nucleotide variantNM_006531.5(IFT88):c.767A>G (p.Tyr256Cys)not provided [RCV005202508]uncertain significance132059952020599520Humanname
15161203CV725416single nucleotide variantNM_006531.5(IFT88):c.613A>G (p.Ser205Gly)not provided [RCV000881529]benign132059866920598669Humanname
127237956CV1054105single nucleotide variantNM_006531.5(IFT88):c.1373C>T (p.Ala458Val)Rod-cone dystrophy [RCV001376434]|not provided [RCV005057346]uncertain significance132063108920631089Human3name
151782379CV1341998single nucleotide variantNM_006531.5(IFT88):c.2423A>C (p.Asp808Ala)not provided [RCV001897363]uncertain significance132069112320691123Humanname
151857424CV1348083single nucleotide variantNM_006531.5(IFT88):c.1197T>A (p.Asp399Glu)not provided [RCV001979698]|not specified [RCV004631874]uncertain significance132061587720615877Humanname
151865017CV1357558single nucleotide variantNM_006531.5(IFT88):c.1641C>G (p.Ile547Met)not provided [RCV001905778]uncertain significance132064135720641357Humanname
151878894CV1370181single nucleotide variantNM_006531.5(IFT88):c.1424T>C (p.Ile475Thr)not provided [RCV001961387]|not specified [RCV004044670]uncertain significance132063836920638369Humanname
151812882CV1373079single nucleotide variantNM_006531.5(IFT88):c.2308C>T (p.Pro770Ser)not provided [RCV001900124]uncertain significance132069077020690770Humanname
151870655CV1395641single nucleotide variantNM_006531.5(IFT88):c.1829A>G (p.Tyr610Cys)not provided [RCV002035621]|not specified [RCV005350844]uncertain significance132064360120643601Humanname
151893361CV1404746single nucleotide variantNM_006531.5(IFT88):c.2422G>A (p.Asp808Asn)not provided [RCV001944960]|not specified [RCV004040376]uncertain significance132069112220691122Humanname
151795693CV1411070single nucleotide variantNM_006531.5(IFT88):c.1631T>C (p.Leu544Pro)not provided [RCV001973456]uncertain significance132064134720641347Humanname
151878076CV1415987single nucleotide variantNM_006531.5(IFT88):c.1223C>G (p.Ser408Cys)not provided [RCV001926079]uncertain significance132062577320625773Humanname
151775818CV1424308single nucleotide variantNM_006531.5(IFT88):c.1694T>A (p.Met565Lys)not provided [RCV002025795]uncertain significance132064346620643466Humanname
151740661CV1425322single nucleotide variantNM_006531.5(IFT88):c.1106G>A (p.Arg369His)not provided [RCV001926437]|not specified [RCV004044186]uncertain significance132060509920605099Humanname
151746817CV1428373single nucleotide variantNM_006531.5(IFT88):c.1636G>A (p.Ala546Thr)not provided [RCV001927067]uncertain significance132064135220641352Humanname
151816104CV1440935single nucleotide variantNM_006531.5(IFT88):c.2395C>A (p.Pro799Thr)not provided [RCV001933688]uncertain significance132069109520691095Humanname
151816818CV1441062single nucleotide variantNM_006531.5(IFT88):c.1918A>G (p.Ile640Val)not provided [RCV001933754]uncertain significance132064492720644927Humanname
151728634CV1444459single nucleotide variantNM_006531.5(IFT88):c.1090C>G (p.Leu364Val)not provided [RCV001945813]uncertain significance132060508320605083Humanname
151837421CV1445169single nucleotide variantNM_006531.5(IFT88):c.1619G>A (p.Cys540Tyr)not provided [RCV001994341]uncertain significance132064133520641335Humanname
151759868CV1448291single nucleotide variantNM_006531.5(IFT88):c.1708C>A (p.Gln570Lys)not provided [RCV001949011]uncertain significance132064348020643480Humanname
151866062CV1456265single nucleotide variantNM_006531.5(IFT88):c.2363A>G (p.Tyr788Cys)not provided [RCV002035069]uncertain significance132069106320691063Humanname
151851836CV1458880single nucleotide variantNM_006531.5(IFT88):c.1658A>C (p.Glu553Ala)not provided [RCV002016690]|not specified [RCV004046710]uncertain significance132064137420641374Humanname
151850832CV1460378single nucleotide variantNM_006531.5(IFT88):c.1292A>G (p.Tyr431Cys)not provided [RCV001904073]uncertain significance132062584220625842Humanname
151849914CV1464816single nucleotide variantNM_006531.5(IFT88):c.1502A>T (p.Glu501Val)not provided [RCV001995826]uncertain significance132063844720638447Humanname
151835998CV1472837single nucleotide variantNM_006531.5(IFT88):c.1722G>T (p.Trp574Cys)not provided [RCV002051211]uncertain significance132064349420643494Humanname
151882034CV1484438single nucleotide variantNM_006531.5(IFT88):c.1522A>G (p.Lys508Glu)not provided [RCV001941202]|not specified [RCV004042050]uncertain significance132063846720638467Humanname
151710063CV1487180single nucleotide variantNM_006531.5(IFT88):c.2083G>T (p.Val695Phe)not provided [RCV001889183]uncertain significance132066351220663512Humanname
151864882CV1509606single nucleotide variantNM_006531.5(IFT88):c.2043C>G (p.His681Gln)not provided [RCV001924477]uncertain significance132065640520656405Humanname
151786573CV1513623single nucleotide variantNM_006531.5(IFT88):c.1882G>T (p.Ala628Ser)not provided [RCV001916384]|not specified [RCV004042873]uncertain significance132064489120644891Humanname
151870437CV1515614single nucleotide variantNM_006531.5(IFT88):c.1598G>A (p.Arg533Gln)not provided [RCV001981226]uncertain significance132064131420641314Humanname
152046883CV1580096single nucleotide variantNM_006531.5(IFT88):c.1213G>T (p.Val405Leu)not provided [RCV002166377]benign132062576320625763Humanname
152170015CV1592221single nucleotide variantNM_006531.5(IFT88):c.1793G>A (p.Arg598His)not provided [RCV002161630]benign132064356520643565Humanname
152091224CV1595830single nucleotide variantNM_006531.5(IFT88):c.1040G>A (p.Ser347Asn)not provided [RCV002077739]benign132060193220601932Humanname
152173412CV1662593single nucleotide variantNM_006531.5(IFT88):c.1121T>A (p.Met374Lys)not provided [RCV002144093]benign132061580120615801Humanname
155958888CV1873585single nucleotide variantNM_006531.5(IFT88):c.2393G>A (p.Arg798Gln)not provided [RCV003074581]uncertain significance132069109320691093Humanname
156403593CV1885842single nucleotide variantNM_006531.5(IFT88):c.1037C>T (p.Pro346Leu)See cases [RCV003238156]|not provided [RCV003069507]uncertain significance132060192920601929Humanname
156042203CV1887193single nucleotide variantNM_006531.5(IFT88):c.1528G>C (p.Ala510Pro)not provided [RCV003078559]uncertain significance132063847320638473Humanname
156146365CV1895145single nucleotide variantNM_006531.5(IFT88):c.1745T>C (p.Ile582Thr)not provided [RCV003082394]uncertain significance132064351720643517Humanname
156093787CV1895769single nucleotide variantNM_006531.5(IFT88):c.2470G>C (p.Glu824Gln)not provided [RCV003080325]|not specified [RCV005351106]uncertain significance132069117020691170Humanname
156358273CV1897745single nucleotide variantNM_006531.5(IFT88):c.1159G>A (p.Ala387Thr)not provided [RCV002602318]uncertain significance132061583920615839Humanname
156367742CV1902907single nucleotide variantNM_006531.5(IFT88):c.2075G>A (p.Arg692His)not provided [RCV003092180]uncertain significance132066350420663504Humanname
156365499CV1906179single nucleotide variantNM_006531.5(IFT88):c.2405C>T (p.Ala802Val)not provided [RCV003092024]uncertain significance132069110520691105Humanname
156100009CV1907025single nucleotide variantNM_006531.5(IFT88):c.2258A>G (p.Tyr753Cys)not provided [RCV003080565]uncertain significance132069072020690720Humanname
156020714CV1911371single nucleotide variantNM_006531.5(IFT88):c.1175C>T (p.Thr392Ile)not provided [RCV002636695]uncertain significance132061585520615855Humanname
156275617CV1911843single nucleotide variantNM_006531.5(IFT88):c.2087G>A (p.Arg696His)not provided [RCV002628254]uncertain significance132066351620663516Humanname
155951811CV1942048single nucleotide variantNM_006531.5(IFT88):c.1498T>C (p.Tyr500His)not provided [RCV003111707]|not specified [RCV004160915]uncertain significance132063844320638443Humanname
156117861CV1952483single nucleotide variantNM_006531.5(IFT88):c.1420G>T (p.Asp474Tyr)not provided [RCV002571744]uncertain significance132063836520638365Humanname
156343615CV1958030single nucleotide variantNM_006531.5(IFT88):c.2452G>A (p.Gly818Arg)not provided [RCV002580643]uncertain significance132069115220691152Humanname
156253885CV1967328single nucleotide variantNM_006531.5(IFT88):c.2345A>G (p.Lys782Arg)not provided [RCV002597560]uncertain significance132069080720690807Humanname
156413139CV1968961single nucleotide variantNM_006531.5(IFT88):c.1016A>T (p.Asp339Val)not provided [RCV002608753]uncertain significance132060190820601908Humanname
156344421CV1970432single nucleotide variantNM_006531.5(IFT88):c.1708C>G (p.Gln570Glu)not provided [RCV002601453]uncertain significance132064348020643480Humanname
156378696CV1971581single nucleotide variantNM_006531.5(IFT88):c.1892T>C (p.Ile631Thr)not provided [RCV002603803]uncertain significance132064490120644901Humanname
155972634CV1974714single nucleotide variantNM_006531.5(IFT88):c.1075A>G (p.Ile359Val)not provided [RCV002617251]uncertain significance132060506820605068Humanname
156351360CV1978430single nucleotide variantNM_006531.5(IFT88):c.2212C>T (p.Arg738Cys)not provided [RCV002601850]uncertain significance132067100920671009Humanname
156220465CV1981268single nucleotide variantNM_006531.5(IFT88):c.2279A>C (p.Glu760Ala)not provided [RCV002626427]uncertain significance132069074120690741Humanname
156341358CV1984922single nucleotide variantNM_006531.5(IFT88):c.2402C>T (p.Thr801Ile)not provided [RCV002631447]uncertain significance132069110220691102Humanname
156415733CV1987467single nucleotide variantNM_006531.5(IFT88):c.1583A>G (p.Tyr528Cys)not provided [RCV002609807]uncertain significance132064129920641299Humanname
155992198CV1990556single nucleotide variantNM_006531.5(IFT88):c.1384A>G (p.Met462Val)not provided [RCV002618069]|not specified [RCV004065840]uncertain significance132063110020631100Humanname
156148686CV2003097single nucleotide variantNM_006531.5(IFT88):c.1412G>A (p.Ser471Asn)not provided [RCV002663824]uncertain significance132063835720638357Humanname
156390927CV2006164single nucleotide variantNM_006531.5(IFT88):c.2261G>A (p.Ser754Asn)not provided [RCV002654374]uncertain significance132069072320690723Humanname
156090565CV2017651single nucleotide variantNM_006531.5(IFT88):c.1087C>T (p.His363Tyr)not provided [RCV002694926]uncertain significance132060508020605080Humanname
156393229CV2019066single nucleotide variantNM_006531.5(IFT88):c.1382A>G (p.Tyr461Cys)not provided [RCV002725260]|not specified [RCV004067626]uncertain significance132063109820631098Humanname
156356644CV2020065single nucleotide variantNM_006531.5(IFT88):c.2318A>G (p.Asn773Ser)not provided [RCV002720580]uncertain significance132069078020690780Humanname
155919943CV2032084single nucleotide variantNM_006531.5(IFT88):c.2335A>G (p.Ser779Gly)not provided [RCV002727333]uncertain significance132069079720690797Humanname
155944807CV2039527single nucleotide variantNM_006531.5(IFT88):c.1312T>A (p.Leu438Ile)not provided [RCV002775416]uncertain significance132063102820631028Humanname
156010686CV2042960single nucleotide variantNM_006531.5(IFT88):c.1147G>T (p.Ala383Ser)not provided [RCV002756669]uncertain significance132061582720615827Humanname
155936875CV2044951single nucleotide variantNM_006531.5(IFT88):c.1100T>C (p.Met367Thr)not provided [RCV002774933]uncertain significance132060509320605093Humanname
156226205CV2048354single nucleotide variantNM_006531.5(IFT88):c.2248G>A (p.Gly750Ser)not provided [RCV002790823]uncertain significance132069071020690710Humanname
156370643CV2048703single nucleotide variantNM_006531.5(IFT88):c.1527G>C (p.Glu509Asp)not provided [RCV002814255]uncertain significance132063847220638472Humanname
156068995CV2050891single nucleotide variantNM_006531.5(IFT88):c.1940C>G (p.Ser647Cys)not provided [RCV002797342]uncertain significance132064494920644949Humanname
155996707CV2056552single nucleotide variantNM_006531.5(IFT88):c.2033A>G (p.Lys678Arg)not provided [RCV002819455]uncertain significance132065639520656395Humanname
156348590CV2061965single nucleotide variantNM_006531.5(IFT88):c.1750A>G (p.Thr584Ala)not provided [RCV002811612]uncertain significance132064352220643522Humanname
155984018CV2070269single nucleotide variantNM_006531.5(IFT88):c.1042G>A (p.Asp348Asn)not provided [RCV002842658]uncertain significance132060503520605035Humanname
156324328CV2072225single nucleotide variantNM_006531.5(IFT88):c.1615G>T (p.Asp539Tyr)not provided [RCV002834915]uncertain significance132064133120641331Humanname
156238314CV2081950single nucleotide variantNM_006531.5(IFT88):c.1090C>A (p.Leu364Ile)not provided [RCV002876502]uncertain significance132060508320605083Humanname
156049618CV2093453single nucleotide variantNM_006531.5(IFT88):c.1499A>G (p.Tyr500Cys)not provided [RCV002867742]uncertain significance132063844420638444Humanname
156136180CV2097363single nucleotide variantNM_006531.5(IFT88):c.1229A>G (p.Tyr410Cys)not provided [RCV002890131]uncertain significance132062577920625779Humanname
156024775CV2106030single nucleotide variantNM_006531.5(IFT88):c.1411A>G (p.Ser471Gly)not provided [RCV002923238]uncertain significance132063835620638356Humanname
156040768CV2121544single nucleotide variantNM_006531.5(IFT88):c.1984A>G (p.Ser662Gly)not provided [RCV002923907]likely benign132065391020653910Humanname
156239760CV2129489single nucleotide variantNM_006531.5(IFT88):c.2284C>G (p.Leu762Val)not provided [RCV002958826]uncertain significance132069074620690746Humanname
156240502CV2129604single nucleotide variantNM_006531.5(IFT88):c.1922A>G (p.Gln641Arg)not provided [RCV002958850]uncertain significance132064493120644931Humanname
156147893CV2131049single nucleotide variantNM_006531.5(IFT88):c.1325A>C (p.Glu442Ala)not provided [RCV002982548]uncertain significance132063104120631041Humanname
155945877CV2139435single nucleotide variantNM_006531.5(IFT88):c.2255A>G (p.Asn752Ser)not provided [RCV002994338]|not specified [RCV004632137]uncertain significance132069071720690717Humanname
156106015CV2139900single nucleotide variantNM_006531.5(IFT88):c.1309A>C (p.Ile437Leu)not provided [RCV003002395]|not specified [RCV004068397]uncertain significance132063102520631025Humanname
156316664CV2140339single nucleotide variantNM_006531.5(IFT88):c.2176C>T (p.Arg726Cys)not provided [RCV003011428]|not specified [RCV004927871]uncertain significance132067097320670973Humanname
156136632CV2141154single nucleotide variantNM_006531.5(IFT88):c.2086C>T (p.Arg696Cys)not provided [RCV002982160]uncertain significance132066351520663515Humanname
155961193CV2144310single nucleotide variantNM_006531.5(IFT88):c.2042A>G (p.His681Arg)not provided [RCV003015474]uncertain significance132065640420656404Humanname
156096660CV2152189single nucleotide variantNM_006531.5(IFT88):c.1090C>T (p.Leu364Phe)not provided [RCV003020892]uncertain significance132060508320605083Humanname
156305197CV2157198single nucleotide variantNM_006531.5(IFT88):c.2222G>C (p.Arg741Thr)not provided [RCV003028287]uncertain significance132067101920671019Humanname
156081850CV2158625single nucleotide variantNM_006531.5(IFT88):c.1529C>G (p.Ala510Gly)not provided [RCV003037910]uncertain significance132063847420638474Humanname
156247565CV2168740single nucleotide variantNM_006531.5(IFT88):c.1531C>G (p.Leu511Val)not provided [RCV003026227]|not specified [RCV004068597]uncertain significance132063847620638476Humanname
156339247CV2174705single nucleotide variantNM_006531.5(IFT88):c.1394A>G (p.Asp465Gly)not provided [RCV003047651]uncertain significance132063833920638339Humanname
156365159CV2192069single nucleotide variantNM_006531.5(IFT88):c.1222T>A (p.Ser408Thr)not provided [RCV003065902]uncertain significance132062577220625772Humanname
156054390CV2243071single nucleotide variantNM_006531.5(IFT88):c.1952C>T (p.Pro651Leu)not provided [RCV003561096]|not specified [RCV004109988]uncertain significance132065387820653878Humanname
156072916CV2325379single nucleotide variantNM_006531.5(IFT88):c.1379A>G (p.Tyr460Cys)not specified [RCV004177749]uncertain significance132063109520631095Humanname
155925494CV2348405single nucleotide variantNM_006531.5(IFT88):c.1204G>A (p.Val402Met)not specified [RCV004193597]uncertain significance132062575420625754Humanname
156391088CV2385073single nucleotide variantNM_006531.5(IFT88):c.2240G>A (p.Gly747Asp)not specified [RCV004228338]uncertain significance132067103720671037Humanname
156002478CV2396585single nucleotide variantNM_006531.5(IFT88):c.1267G>A (p.Val423Ile)not specified [RCV004240414]likely benign132062581720625817Humanname
329400224CV2440780single nucleotide variantNM_006531.5(IFT88):c.1657G>C (p.Glu553Gln)not provided [RCV003779639]|not specified [RCV004258723]likely benign|uncertain significance132064137320641373Humanname
329377233CV2462441single nucleotide variantNM_006531.5(IFT88):c.2395C>T (p.Pro799Ser)not specified [RCV004276632]uncertain significance132069109520691095Humanname
402478855CV2854661single nucleotide variantNM_006531.5(IFT88):c.2177G>A (p.Arg726His)not provided [RCV003543795]uncertain significance132067097420670974Humanname
402476530CV2857309single nucleotide variantNM_006531.5(IFT88):c.1476T>G (p.Asn492Lys)not provided [RCV003543466]uncertain significance132063842120638421Humanname
405121308CV2888098single nucleotide variantNM_006531.5(IFT88):c.1630C>T (p.Leu544Phe)not provided [RCV003559122]uncertain significance132064134620641346Humanname
405165418CV2905882single nucleotide variantNM_006531.5(IFT88):c.2196T>G (p.Asp732Glu)not provided [RCV003562701]uncertain significance132067099320670993Humanname
405084795CV2946509single nucleotide variantNM_006531.5(IFT88):c.1550G>T (p.Cys517Phe)not provided [RCV003664875]uncertain significance132063849520638495Humanname
402511516CV2948333single nucleotide variantNM_006531.5(IFT88):c.2230A>C (p.Ser744Arg)not provided [RCV003662605]uncertain significance132067102720671027Humanname
405118071CV2949720single nucleotide variantNM_006531.5(IFT88):c.1157T>C (p.Ile386Thr)not provided [RCV003667140]uncertain significance132061583720615837Humanname
405220788CV2965966single nucleotide variantNM_006531.5(IFT88):c.1565A>G (p.Tyr522Cys)not provided [RCV003680647]uncertain significance132063851020638510Humanname
405184990CV2967528single nucleotide variantNM_006531.5(IFT88):c.1572T>G (p.Ile524Met)not provided [RCV003676581]uncertain significance132063851720638517Humanname
405243961CV2971817single nucleotide variantNM_006531.5(IFT88):c.1425A>G (p.Ile475Met)not provided [RCV003684721]uncertain significance132063837020638370Humanname
405194297CV2985948single nucleotide variantNM_006531.5(IFT88):c.1492G>A (p.Gly498Ser)not provided [RCV003706753]uncertain significance132063843720638437Humanname
404991415CV2995076single nucleotide variantNM_006531.5(IFT88):c.1588A>C (p.Lys530Gln)not provided [RCV003692263]uncertain significance132064130420641304Humanname
405029215CV3012472single nucleotide variantNM_006531.5(IFT88):c.1325A>G (p.Glu442Gly)not provided [RCV003695437]uncertain significance132063104120631041Humanname
405159242CV3021312single nucleotide variantNM_006531.5(IFT88):c.1386G>A (p.Met462Ile)not provided [RCV003703843]uncertain significance132063110220631102Humanname
405138475CV3029537single nucleotide variantNM_006531.5(IFT88):c.1592T>A (p.Leu531Gln)not provided [RCV003702305]uncertain significance132064130820641308Humanname
405073418CV3034590single nucleotide variantNM_006531.5(IFT88):c.2288G>C (p.Ser763Thr)not provided [RCV003698455]uncertain significance132069075020690750Humanname
402505238CV3038961single nucleotide variantNM_006531.5(IFT88):c.1439A>G (p.Asp480Gly)not provided [RCV003715133]uncertain significance132063838420638384Humanname
405180154CV3060533single nucleotide variantNM_006531.5(IFT88):c.1915G>A (p.Ala639Thr)not provided [RCV003728695]uncertain significance132064492420644924Humanname
405149099CV3123169single nucleotide variantNM_006531.5(IFT88):c.1597C>T (p.Arg533Trp)not provided [RCV003817402]uncertain significance132064131320641313Humanname
405025097CV3133033single nucleotide variantNM_006531.5(IFT88):c.1767A>T (p.Leu589Phe)not provided [RCV003830180]uncertain significance132064353920643539Humanname
405016374CV3139092single nucleotide variantNM_006531.5(IFT88):c.1283A>G (p.Gln428Arg)not provided [RCV003829429]|not specified [RCV004634367]uncertain significance132062583320625833Humanname
405163729CV3153219single nucleotide variantNM_006531.5(IFT88):c.2239G>A (p.Gly747Ser)not provided [RCV003840954]uncertain significance132067103620671036Humanname
405244610CV3161512single nucleotide variantNM_006531.5(IFT88):c.2176C>A (p.Arg726Ser)not provided [RCV003868224]uncertain significance132067097320670973Humanname
405235653CV3168571single nucleotide variantNM_006531.5(IFT88):c.2224G>A (p.Glu742Lys)not provided [RCV003866045]uncertain significance132067102120671021Humanname
404996723CV3172909single nucleotide variantNM_006531.5(IFT88):c.1420G>C (p.Asp474His)not provided [RCV003882191]uncertain significance132063836520638365Humanname
405229376CV3180429single nucleotide variantNM_006531.5(IFT88):c.2380C>T (p.Pro794Ser)not provided [RCV003864850]uncertain significance132069108020691080Humanname
407514738CV3440698single nucleotide variantNM_006531.5(IFT88):c.2309C>T (p.Pro770Leu)not specified [RCV004627692]uncertain significance132069077120690771Humanname
407514740CV3440699single nucleotide variantNM_006531.5(IFT88):c.1232T>G (p.Val411Gly)not specified [RCV004627693]uncertain significance132062578220625782Humanname
407514743CV3440700single nucleotide variantNM_006531.5(IFT88):c.1567A>G (p.Asn523Asp)not specified [RCV004627694]uncertain significance132063851220638512Humanname
408365147CV3499752single nucleotide variantNM_006531.5(IFT88):c.1528G>A (p.Ala510Thr)Retinitis pigmentosa [RCV004720561]uncertain significance132063847320638473Human2name
408383036CV3504591single nucleotide variantNM_006531.5(IFT88):c.1220C>G (p.Ala407Gly)IFT88-related disorder [RCV004730365]uncertain significance132062577020625770Humanname , trait , alternate_id
597764114CV3680019single nucleotide variantNM_006531.5(IFT88):c.1565A>T (p.Tyr522Phe)not specified [RCV004926511]uncertain significance132063851020638510Humanname
597845742CV3736370single nucleotide variantNM_006531.5(IFT88):c.1076T>A (p.Ile359Lys)not provided [RCV005059948]uncertain significance132060506920605069Humanname
597904393CV3738289single nucleotide variantNM_006531.5(IFT88):c.1670A>G (p.Gln557Arg)not provided [RCV005072711]uncertain significance132064138620641386Humanname
597913002CV3740443single nucleotide variantNM_006531.5(IFT88):c.1678A>G (p.Asn560Asp)not provided [RCV005073780]uncertain significance132064139420641394Humanname
597885290CV3741665single nucleotide variantNM_006531.5(IFT88):c.1003C>G (p.Pro335Ala)not provided [RCV005070384]uncertain significance132060189520601895Humanname
597885943CV3741738single nucleotide variantNM_006531.5(IFT88):c.1361C>T (p.Thr454Ile)not provided [RCV005070457]uncertain significance132063107720631077Humanname
597876943CV3747921single nucleotide variantNM_006531.5(IFT88):c.1105C>T (p.Arg369Cys)not provided [RCV005069413]uncertain significance132060509820605098Humanname
597909855CV3749578single nucleotide variantNM_006531.5(IFT88):c.2392C>T (p.Arg798Ter)not provided [RCV005073426]uncertain significance132069109220691092Humanname
597965552CV3751174single nucleotide variantNM_006531.5(IFT88):c.2188G>A (p.Gly730Ser)not provided [RCV005082736]uncertain significance132067098520670985Humanname
597962765CV3753657single nucleotide variantNM_006531.5(IFT88):c.1051C>T (p.His351Tyr)not provided [RCV005081961]uncertain significance132060504420605044Humanname
597845234CV3761535single nucleotide variantNM_006531.5(IFT88):c.1213G>A (p.Val405Met)not provided [RCV005087135]uncertain significance132062576320625763Humanname
597944373CV3782814single nucleotide variantNM_006531.5(IFT88):c.1026A>C (p.Lys342Asn)not provided [RCV005134354]uncertain significance132060191820601918Humanname
597960823CV3811969single nucleotide variantNM_006531.5(IFT88):c.2390A>G (p.Glu797Gly)not provided [RCV005163622]uncertain significance132069109020691090Humanname
597842452CV3831020single nucleotide variantNM_006531.5(IFT88):c.2242G>A (p.Asp748Asn)not provided [RCV005172401]uncertain significance132067103920671039Humanname
597905392CV3846526single nucleotide variantNM_006531.5(IFT88):c.2455G>A (p.Asp819Asn)not provided [RCV005181953]uncertain significance132069115520691155Humanname
597871707CV3849366single nucleotide variantNM_006531.5(IFT88):c.2282G>A (p.Arg761Gln)not provided [RCV005197547]uncertain significance132069074420690744Humanname
597920093CV3851965single nucleotide variantNM_006531.5(IFT88):c.1969C>A (p.Gln657Lys)not provided [RCV005204945]uncertain significance132065389520653895Humanname
597895377CV3853906single nucleotide variantNM_006531.5(IFT88):c.1318G>A (p.Val440Met)not provided [RCV005201189]uncertain significance132063103420631034Humanname
597864897CV3861128single nucleotide variantNM_006531.5(IFT88):c.1835C>T (p.Ser612Leu)not provided [RCV005196476]uncertain significance132064484420644844Humanname
597929824CV3862258single nucleotide variantNM_006531.5(IFT88):c.1766T>C (p.Leu589Ser)not provided [RCV005206499]uncertain significance132064353820643538Humanname
12896236CV390036single nucleotide variantNM_006531.5(IFT88):c.1122G>A (p.Met374Ile)not provided [RCV002056696]|not specified [RCV000455077]benign132061580220615802Human1name
12896236CV390036single nucleotide variantNM_006531.5(IFT88):c.1122G>A (p.Met374Ile)not provided [RCV002056696]|not specified [RCV000455077]benign132061580220615803Human1name
12896035CV390163single nucleotide variantNM_006531.5(IFT88):c.1337G>A (p.Ser446Asn)not provided [RCV002063663]|not specified [RCV000454792]benign132063105320631053Humanname
598268671CV3979379single nucleotide variantNM_006531.5(IFT88):c.2201G>A (p.Ser734Asn)not specified [RCV005349753]uncertain significance132067099820670998Humanname
598268676CV3979380single nucleotide variantNM_006531.5(IFT88):c.1044T>A (p.Asp348Glu)not specified [RCV005349754]uncertain significance132060503720605037Humanname
13467409CV440213single nucleotide variantNM_006531.5(IFT88):c.2087G>C (p.Arg696Pro)Jeune thoracic dystrophy [RCV000516068]conflicting interpretations of pathogenicity|uncertain significance132066351620663516Human1name
15199839CV702622single nucleotide variantNM_006531.5(IFT88):c.1988G>C (p.Cys663Ser)not provided [RCV000957156]benign132065391420653914Humanname
15172777CV738989single nucleotide variantNM_006531.5(IFT88):c.1604A>T (p.Asp535Val)IFT88-related disorder [RCV003977925]|not provided [RCV000905735]likely benign132064132020641320Humanname , trait , alternate_id
156411731CV1973675deletionNM_006531.5(IFT88):c.252_253del (p.Ala86fs)not provided [RCV002608338]uncertain significance132059100820591009Humanname
405192597CV3066153inversionNM_006531.5(IFT88):c.230_231inv (p.Ser77Leu)not provided [RCV003729869]uncertain significance132059098620590987Humanname
156207961CV2131407duplicationNM_006531.5(IFT88):c.1789_1814dup (p.Phe606fs)not provided [RCV002985474]uncertain significance132064356020643561Humanname
155947443CV2029044deletionNM_006531.5(IFT88):c.1057_1060del (p.Thr352_Asn353insTer)not provided [RCV002730488]uncertain significance132060504720605050Humanname
156143513CV2122509insertionNM_006531.5(IFT88):c.876_877insCTG (p.Ile292_Asn293insLeu)not provided [RCV002954314]uncertain significance132060176820601769Humanname