Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


375 records found for search term Itga8
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150447416CV1270308duplicationNM_003638.3(ITGA8):c.-64dupnot provided [RCV001691444]benign101571983415719835Humanname
405085576CV3047721single nucleotide variantNM_003638.3(ITGA8):c.569-7G>Anot provided [RCV003717447]likely benign101567879015678790Humanname
597965706CV3848405single nucleotide variantNM_003638.3(ITGA8):c.444+8T>Cnot provided [RCV005194285]likely benign101568793015687930Humanname
150332122CV1163536single nucleotide variantNM_003638.3(ITGA8):c.631-73A>Gnot provided [RCV001528087]benign101567771015677710Humanname
150461486CV1234785single nucleotide variantNM_003638.3(ITGA8):c.892-39T>Cnot provided [RCV001649367]benign101565909415659094Humanname
150464520CV1252704single nucleotide variantNM_003638.3(ITGA8):c.343+95G>Cnot provided [RCV001670028]benign101571867115718671Humanname
150448767CV1253598single nucleotide variantNM_003638.3(ITGA8):c.209+35A>Gnot provided [RCV001667526]benign101571952815719528Humanname
150450620CV1254134single nucleotide variantNM_003638.3(ITGA8):c.803-21G>CRenal hypodysplasia/aplasia 1 [RCV001730945]|not provided [RCV001667772]benign101567166815671668Human2name
150507660CV1257193single nucleotide variantNM_003638.3(ITGA8):c.847+95T>Cnot provided [RCV001678492]benign101567150815671508Humanname
150461356CV1264299single nucleotide variantNM_003638.3(ITGA8):c.444+14G>ARenal hypodysplasia/aplasia 1 [RCV001730959]|not provided [RCV001682216]benign101568792415687924Human2name
150488474CV1265254single nucleotide variantNM_003638.3(ITGA8):c.848-71G>Tnot provided [RCV001687290]benign101566099315660993Humanname
150454429CV1266004single nucleotide variantNM_003638.3(ITGA8):c.847+61A>Gnot provided [RCV001692581]benign101567154215671542Humanname
8591276CV132022single nucleotide variantNM_003638.3(ITGA8):c.2982+2T>CRenal hypodysplasia/aplasia 1 [RCV000114393]|not provided [RCV001854534]pathogenic|likely pathogenic101553104815531048Human2name
151820851CV1510627single nucleotide variantNM_003638.3(ITGA8):c.1399+6G>Cnot provided [RCV001934130]uncertain significance101564402415644024Humanname
152031204CV1632533single nucleotide variantNM_003638.3(ITGA8):c.802+11T>Cnot provided [RCV002124500]benign101567261315672613Humanname
156089485CV1953535single nucleotide variantNM_003638.3(ITGA8):c.848-12T>Cnot provided [RCV002570173]benign101566093415660934Humanname
156210993CV1955760single nucleotide variantNM_003638.3(ITGA8):c.948+17A>Gnot provided [RCV002575154]likely benign101565898215658982Humanname
156164882CV1959812single nucleotide variantNM_003638.3(ITGA8):c.630+19G>Anot provided [RCV002573637]likely benign101567870315678703Humanname
156310999CV2000082single nucleotide variantNM_003638.3(ITGA8):c.209+16C>Anot provided [RCV002671634]likely benign101571954715719547Humanname
156294774CV2111593single nucleotide variantNM_003638.3(ITGA8):c.1971-3T>Cnot provided [RCV002922300]likely benign101560435815604358Humanname
156136168CV2113332single nucleotide variantNM_003638.3(ITGA8):c.1400-9C>Anot provided [RCV002928387]likely benign101561656815616568Humanname
401919808CV2794956single nucleotide variantNM_003638.3(ITGA8):c.1764+1G>ARenal hypodysplasia/aplasia 1 [RCV003388702]likely pathogenic101560767615607676Human2name
401938130CV2813016single nucleotide variantNM_003638.3(ITGA8):c.1002-7C>Gnot provided [RCV003417238]likely benign101564705815647058Humanname
402510394CV3042443single nucleotide variantNM_003638.3(ITGA8):c.2118+9T>Cnot provided [RCV003715583]likely benign101560419915604199Humanname
405254086CV3045272single nucleotide variantNM_003638.3(ITGA8):c.1446-5C>TITGA8-related disorder [RCV003981076]|not provided [RCV003722843]likely benign101561377215613772Human1name , trait , alternate_id
405192090CV3145990single nucleotide variantNM_003638.3(ITGA8):c.209+18G>Anot provided [RCV003843537]likely benign101571954515719545Humanname
404999954CV3183898single nucleotide variantNM_003638.3(ITGA8):c.209+16C>Tnot provided [RCV003882481]likely benign101571954715719547Humanname
405263058CV3189400single nucleotide variantNM_003638.3(ITGA8):c.2638-6T>GITGA8-related disorder [RCV003896634]likely benign101555820815558208Humanname , trait , alternate_id
405701835CV3225962single nucleotide variantNM_003638.3(ITGA8):c.1970+1G>ARenal hypodysplasia/aplasia 1 [RCV003989402]likely pathogenic101560572315605723Human2name
597837978CV3758127single nucleotide variantNM_003638.3(ITGA8):c.1609+8T>Anot provided [RCV005085961]likely benign101560822715608227Humanname
597962458CV3809177single nucleotide variantNM_003638.3(ITGA8):c.802+14C>Tnot provided [RCV005164079]likely benign101567261015672610Humanname
15103516CV759949single nucleotide variantNM_003638.3(ITGA8):c.3105+7T>Cnot provided [RCV000915177]likely benign101551928315519283Humanname
15151558CV779477single nucleotide variantNM_003638.3(ITGA8):c.2478+5C>Tnot provided [RCV000968165]benign101557548415575484Humanname
150331987CV1163537single nucleotide variantNM_003638.3(ITGA8):c.631-111A>Gnot provided [RCV001528033]benign101567774815677748Humanname
150335815CV1165008single nucleotide variantNM_003638.3(ITGA8):c.2638-70T>Cnot provided [RCV001530564]benign101555827215558272Humanname
150510788CV1210574single nucleotide variantNM_003638.3(ITGA8):c.2766+81A>Cnot provided [RCV001597753]benign101555799315557993Humanname
150449632CV1215134single nucleotide variantNM_003638.3(ITGA8):c.2880+46T>Cnot provided [RCV001611724]benign101554840915548409Humanname
150443868CV1216551single nucleotide variantNM_003638.3(ITGA8):c.1400-38C>Tnot provided [RCV001610850]benign101561659715616597Humanname
150468733CV1218956single nucleotide variantNM_003638.3(ITGA8):c.848-307A>Gnot provided [RCV001614708]benign101566122915661229Humanname
150458065CV1219702single nucleotide variantNM_003638.3(ITGA8):c.2880+47G>Anot provided [RCV001612918]benign101554840815548408Humanname
150451067CV1220812single nucleotide variantNM_003638.3(ITGA8):c.568+332T>Cnot provided [RCV001611906]benign101568367215683672Humanname
150499513CV1224603single nucleotide variantNM_003638.3(ITGA8):c.948+171T>Cnot provided [RCV001620434]benign101565882815658828Humanname
150495561CV1225105deletionNM_003638.3(ITGA8):c.803-233delnot provided [RCV001619583]benign101567188015671880Humanname
150506449CV1226349single nucleotide variantNM_003638.3(ITGA8):c.2881-55A>Gnot provided [RCV001635717]benign101553120615531206Humanname
150516861CV1227300single nucleotide variantNM_003638.3(ITGA8):c.210-311T>Gnot provided [RCV001639400]benign101571921015719210Humanname
150433245CV1230460single nucleotide variantNM_003638.3(ITGA8):c.891+215T>Gnot provided [RCV001643405]benign101566066415660664Humanname
150459097CV1236043single nucleotide variantNM_003638.3(ITGA8):c.802+192G>Tnot provided [RCV001649014]benign101567243215672432Humanname
150456009CV1236827deletionNM_003638.3(ITGA8):c.892-158delnot provided [RCV001648563]benign101565921315659213Humanname
150489991CV1239038duplicationNM_003638.3(ITGA8):c.344-285dupnot provided [RCV001654606]benign101568830215688303Humanname
150478942CV1240586single nucleotide variantNM_003638.3(ITGA8):c.2880+82C>Anot provided [RCV001652461]benign101554837315548373Humanname
150470944CV1248113single nucleotide variantNM_003638.3(ITGA8):c.1609+48G>Cnot provided [RCV001671149]benign101560818715608187Humanname
150469380CV1249085single nucleotide variantNM_003638.3(ITGA8):c.891+293T>Cnot provided [RCV001670847]benign101566058615660586Humanname
150471052CV1258728single nucleotide variantNM_003638.3(ITGA8):c.948+195T>Cnot provided [RCV001684274]benign101565880415658804Humanname
150480581CV1258752single nucleotide variantNM_003638.3(ITGA8):c.569-180C>Tnot provided [RCV001685882]benign101567896315678963Humanname
150445627CV1261230single nucleotide variantNM_003638.3(ITGA8):c.803-311T>Anot provided [RCV001679904]benign101567195815671958Humanname
150448047CV1261911single nucleotide variantNM_003638.3(ITGA8):c.568+280G>Anot provided [RCV001680296]benign101568372415683724Humanname
150488044CV1262828single nucleotide variantNM_003638.3(ITGA8):c.892-224A>Gnot provided [RCV001687226]benign101565927915659279Humanname
150458735CV1269683single nucleotide variantNM_003638.3(ITGA8):c.848-180C>Tnot provided [RCV001693223]benign101566110215661102Humanname
150471967CV1270181single nucleotide variantNM_003638.3(ITGA8):c.1902+41G>Anot provided [RCV001695469]benign101560624415606244Humanname
150462182CV1276049single nucleotide variantNM_003638.3(ITGA8):c.1399+46T>Anot provided [RCV001709988]benign101564398415643984Humanname
150489490CV1279046deletionNM_003638.3(ITGA8):c.344-265delnot provided [RCV001716303]benign101568830315688303Humanname
150512264CV1284902single nucleotide variantNM_003638.3(ITGA8):c.949-273A>Cnot provided [RCV001721771]benign101565567915655679Humanname
152052321CV1523573single nucleotide variantNM_003638.3(ITGA8):c.1400-11G>ARenal hypodysplasia/aplasia 1 [RCV002494296]|not provided [RCV002127392]benign|likely benign101561657015616570Human2name
156415578CV1955309single nucleotide variantNM_003638.3(ITGA8):c.1400-11G>Cnot provided [RCV002589244]likely benign101561657015616570Humanname
156407183CV1960492single nucleotide variantNM_003638.3(ITGA8):c.1207+18G>Anot provided [RCV002586152]likely benign101564682815646828Humanname
156217720CV1963426single nucleotide variantNM_003638.3(ITGA8):c.1446-17G>Tnot provided [RCV002575401]benign101561378415613784Humanname
156243521CV2040074single nucleotide variantNM_003638.3(ITGA8):c.1610-18T>Cnot provided [RCV002805761]benign101560784915607849Humanname
155954485CV2043930single nucleotide variantNM_003638.3(ITGA8):c.1903-15G>Anot provided [RCV002775948]benign101560580615605806Humanname
405226910CV3059330single nucleotide variantNM_003638.3(ITGA8):c.2880+10A>Cnot provided [RCV003734102]likely benign101554844515548445Humanname
405120062CV3116457single nucleotide variantNM_003638.3(ITGA8):c.1903-13T>Gnot provided [RCV003814758]uncertain significance101560580415605804Humanname
405088172CV3122213single nucleotide variantNM_003638.3(ITGA8):c.1553+12C>Tnot provided [RCV003810968]likely benign101561364815613648Humanname
405195269CV3128667single nucleotide variantNM_003638.3(ITGA8):c.2291+20A>Tnot provided [RCV003821405]likely benign101559220515592205Humanname
405061850CV3129604single nucleotide variantNM_003638.3(ITGA8):c.1903-16C>Tnot provided [RCV003832873]likely benign101560580715605807Humanname
405110870CV3137227single nucleotide variantNM_003638.3(ITGA8):c.1554-12T>Cnot provided [RCV003836190]uncertain significance101560830215608302Humanname
597849439CV3746583single nucleotide variantNM_003638.3(ITGA8):c.1553+13G>Anot provided [RCV005060402]likely benign101561364715613647Humanname
15176729CV775635single nucleotide variantNM_003638.3(ITGA8):c.1001+10T>Cnot provided [RCV000928984]likely benign101565534415655344Humanname
150478866CV1218861single nucleotide variantNM_003638.3(ITGA8):c.2119-247T>Cnot provided [RCV001616489]benign101559754615597546Humanname
150480840CV1222048single nucleotide variantNM_003638.3(ITGA8):c.1208-139G>Anot provided [RCV001616845]benign101564436015644360Humanname
150505081CV1222804single nucleotide variantNM_003638.3(ITGA8):c.1971-186G>Cnot provided [RCV001621738]benign101560454115604541Humanname
150502916CV1223337single nucleotide variantNM_003638.3(ITGA8):c.2881-220G>Cnot provided [RCV001621272]benign101553137115531371Humanname
150501099CV1223629deletionNM_003638.3(ITGA8):c.1971-104delnot provided [RCV001620750]benign101560445915604459Humanname
150503428CV1223748single nucleotide variantNM_003638.3(ITGA8):c.1765-227G>Anot provided [RCV001621397]benign101560664915606649Humanname
150498635CV1224170single nucleotide variantNM_003638.3(ITGA8):c.1001+221G>Anot provided [RCV001620283]benign101565513315655133Humanname
150516490CV1227090single nucleotide variantNM_003638.3(ITGA8):c.1553+234C>Tnot provided [RCV001639188]benign101561342615613426Humanname
150509759CV1228781single nucleotide variantNM_003638.3(ITGA8):c.2880+102T>Cnot provided [RCV001636566]benign101554835315548353Humanname
150473300CV1234255single nucleotide variantNM_003638.3(ITGA8):c.1902+180C>Tnot provided [RCV001651574]benign101560610515606105Humanname
150459521CV1236107deletionNM_003638.3(ITGA8):c.1400-184delnot provided [RCV001649078]benign101561674315616743Humanname
150506881CV1242322single nucleotide variantNM_003638.3(ITGA8):c.2119-113A>Gnot provided [RCV001658677]benign101559741215597412Humanname
150511199CV1242638single nucleotide variantNM_003638.3(ITGA8):c.2478+305G>Anot provided [RCV001660990]benign101557518415575184Humanname
150431152CV1243601single nucleotide variantNM_003638.3(ITGA8):c.2880+310C>Tnot provided [RCV001663221]benign101554814515548145Humanname
150458459CV1248938single nucleotide variantNM_003638.3(ITGA8):c.1610-169G>Tnot provided [RCV001669114]benign101560800015608000Humanname
150485473CV1250234single nucleotide variantNM_003638.3(ITGA8):c.1553+261T>Cnot provided [RCV001673847]benign101561339915613399Humanname
150447479CV1253411single nucleotide variantNM_003638.3(ITGA8):c.1554-296A>Cnot provided [RCV001667339]benign101560858615608586Humanname
150492397CV1253926single nucleotide variantNM_003638.3(ITGA8):c.2881-216C>Tnot provided [RCV001675022]benign101553136715531367Humanname
150507989CV1255974single nucleotide variantNM_003638.3(ITGA8):c.2881-248A>Gnot provided [RCV001678575]benign101553139915531399Humanname
150493509CV1257569single nucleotide variantNM_003638.3(ITGA8):c.1400-101A>Gnot provided [RCV001675242]benign101561666015616660Humanname
150503058CV1257702single nucleotide variantNM_003638.3(ITGA8):c.2478+337C>Tnot provided [RCV001677390]benign101557515215575152Humanname
150470726CV1258647single nucleotide variantNM_003638.3(ITGA8):c.2119-293T>Cnot provided [RCV001684192]benign101559759215597592Humanname
150468772CV1259547single nucleotide variantNM_003638.3(ITGA8):c.1400-217G>Cnot provided [RCV001683847]benign101561677615616776Humanname
150448547CV1260703single nucleotide variantNM_003638.3(ITGA8):c.2478+240C>Gnot provided [RCV001680371]benign101557524915575249Humanname
150462925CV1263730single nucleotide variantNM_003638.3(ITGA8):c.1001+157T>Cnot provided [RCV001682431]benign101565519715655197Humanname
150441155CV1267029single nucleotide variantNM_003638.3(ITGA8):c.2881-187C>Gnot provided [RCV001690465]benign101553133815531338Humanname
150491660CV1267812duplicationNM_003638.3(ITGA8):c.1971-245dupnot provided [RCV001687837]benign101560457815604579Humanname
150489530CV1268915single nucleotide variantNM_003638.3(ITGA8):c.1971-297C>Tnot provided [RCV001687479]benign101560465215604652Humanname
150458900CV1269711single nucleotide variantNM_003638.3(ITGA8):c.2881-264A>Gnot provided [RCV001693251]benign101553141515531415Humanname
150498260CV1271480single nucleotide variantNM_003638.3(ITGA8):c.1446-275T>Cnot provided [RCV001689170]benign101561404215614042Humanname
150436775CV1273576deletionNM_003638.3(ITGA8):c.1971-224delnot provided [RCV001689563]benign101560457915604579Humanname
150452586CV1276745deletionNM_003638.3(ITGA8):c.1970+245delnot provided [RCV001708535]benign101560547915605479Humanname
150481765CV1279827single nucleotide variantNM_003638.3(ITGA8):c.1445+216A>Gnot provided [RCV001714906]benign101561629815616298Humanname
8651804CV128379single nucleotide variantNM_003638.2(ITGA8):c.3105+120C>ALung cancer [RCV000108866]uncertain significance101551917015519170Humanname
150464139CV1273256microsatelliteNM_003638.3(ITGA8):c.1554-134GT[10]not provided [RCV001694013]benign101560840315608404Humanname
402496151CV2942801single nucleotide variantNM_003638.3(ITGA8):c.6G>T (p.Ser2=)not provided [RCV003661149]likely benign101571976615719766Humanname
597932584CV3780779deletionNM_003638.3(ITGA8):c.2118_2118+3delnot provided [RCV005116891]likely pathogenic101560420515604208Humanname
150516987CV1227426single nucleotide variantNM_003638.3(ITGA8):c.24T>A (p.Gly8=)not provided [RCV001639527]benign101571974815719748Humanname
156328600CV2094622single nucleotide variantNM_003638.3(ITGA8):c.24T>C (p.Gly8=)not provided [RCV002899783]likely benign101571974815719748Humanname
405278607CV3216616single nucleotide variantNM_003638.3(ITGA8):c.21C>G (p.Arg7=)ITGA8-related disorder [RCV003954518]likely benign101571975115719751Humanname , trait , alternate_id
151881041CV1437281deletionNM_003638.3(ITGA8):c.2982+3_2982+6delnot provided [RCV001999578]uncertain significance101553104415531047Humanname
151709694CV1501931single nucleotide variantNM_003638.3(ITGA8):c.5C>G (p.Ser2Trp)not provided [RCV001907730]uncertain significance101571976715719767Humanname
152055862CV1590953single nucleotide variantNM_003638.3(ITGA8):c.51C>T (p.Ile17=)not provided [RCV002109530]likely benign101571972115719721Humanname
597959398CV3797555single nucleotide variantNM_003638.3(ITGA8):c.78G>T (p.Ala26=)not provided [RCV005138242]likely benign101571969415719694Humanname
405277176CV3195358single nucleotide variantNM_003638.3(ITGA8):c.171C>T (p.Phe57=)ITGA8-related disorder [RCV003904149]likely benign101571960115719601Humanname , trait , alternate_id
150339355CV1167493duplicationNM_003638.3(ITGA8):c.344-285_344-284dupnot provided [RCV001534173]benign101568830215688303Humanname
156011891CV1985976single nucleotide variantNM_003638.3(ITGA8):c.462T>C (p.Tyr154=)not provided [RCV002636266]likely benign101568411015684110Humanname
156164243CV2246764single nucleotide variantNM_003638.3(ITGA8):c.53C>G (p.Ala18Gly)Inborn genetic diseases [RCV002787681]uncertain significance101571971915719719Human1name
156081285CV2292794single nucleotide variantNM_003638.3(ITGA8):c.41C>T (p.Ala14Val)Inborn genetic diseases [RCV002869272]uncertain significance101571973115719731Human1name
401891986CV2775863single nucleotide variantNM_003638.3(ITGA8):c.53C>A (p.Ala18Glu)Inborn genetic diseases [RCV003355189]uncertain significance101571971915719719Human1name
401938131CV2813017single nucleotide variantNM_003638.3(ITGA8):c.345C>T (p.Asn115=)not provided [RCV003417239]likely benign101568803715688037Humanname
405236868CV2884782single nucleotide variantNM_003638.3(ITGA8):c.972C>T (p.Thr324=)not provided [RCV003556571]benign101565538315655383Humanname
405230597CV2899642single nucleotide variantNM_003638.3(ITGA8):c.312G>A (p.Ala104=)ITGA8-related disorder [RCV003946735]|not provided [RCV003555445]benign|likely benign101571879715718797Human1name , trait , alternate_id
402467777CV2910641single nucleotide variantNM_003638.3(ITGA8):c.834G>T (p.Gly278=)not provided [RCV003569750]likely benign101567161615671616Humanname
405095858CV3045698single nucleotide variantNM_003638.3(ITGA8):c.981A>G (p.Val327=)not provided [RCV003718050]likely benign101565537415655374Humanname
405274492CV3208755single nucleotide variantNM_003638.3(ITGA8):c.828T>C (p.Phe276=)ITGA8-related disorder [RCV003951569]likely benign101567162215671622Humanname , trait , alternate_id
405292867CV3210467single nucleotide variantNM_003638.3(ITGA8):c.420G>C (p.Val140=)ITGA8-related disorder [RCV003931428]likely benign101568796215687962Humanname , trait , alternate_id
407458712CV3451618single nucleotide variantNM_003638.3(ITGA8):c.62G>T (p.Cys21Phe)Inborn genetic diseases [RCV004633384]uncertain significance101571971015719710Human1name
596928317CV3541456deletionNM_003638.3(ITGA8):c.158del (p.Lys53fs)Renal hypodysplasia/aplasia 1 [RCV004797328]likely pathogenic101571961415719614Human2name
597961606CV3753284single nucleotide variantNM_003638.3(ITGA8):c.324G>A (p.Gln108=)not provided [RCV005081784]likely benign101571878515718785Humanname
597973661CV3791419single nucleotide variantNM_003638.3(ITGA8):c.309T>G (p.Ser103=)not provided [RCV005143435]likely benign101571880015718800Humanname
597951573CV3798365deletionNM_003638.3(ITGA8):c.2119-19_2119-18delnot provided [RCV005136145]likely benign101559731715597318Humanname
15201439CV701269single nucleotide variantNM_003638.3(ITGA8):c.921G>A (p.Thr307=)not provided [RCV000957623]benign101565902615659026Humanname
15175809CV712286single nucleotide variantNM_003638.3(ITGA8):c.840T>C (p.Ser280=)Inborn genetic diseases [RCV004986718]|Renal hypodysplasia/aplasia 1 [RCV001334157]|not provided [RCV000973037]likely benign|uncertain significance101567161015671610Human3name
15110501CV712287single nucleotide variantNM_003638.3(ITGA8):c.723A>C (p.Ser241=)not provided [RCV000960915]benign101567270315672703Humanname
15130878CV712288single nucleotide variantNM_003638.3(ITGA8):c.483G>A (p.Pro161=)not provided [RCV000964509]benign|likely benign101568408915684089Humanname
15156536CV723872single nucleotide variantNM_003638.3(ITGA8):c.888A>C (p.Gly296=)not provided [RCV000880649]likely benign101566088215660882Humanname
15172879CV723873single nucleotide variantNM_003638.3(ITGA8):c.663T>C (p.Ser221=)not provided [RCV000883930]benign101567760515677605Humanname
15160222CV723874single nucleotide variantNM_003638.3(ITGA8):c.330G>A (p.Pro110=)not provided [RCV000881341]benign101571877915718779Humanname
15177934CV767681single nucleotide variantNM_003638.3(ITGA8):c.765G>T (p.Thr255=)not provided [RCV000929276]likely benign101567266115672661Humanname
15175017CV767682single nucleotide variantNM_003638.3(ITGA8):c.537C>T (p.Ser179=)not provided [RCV000928575]likely benign101568403515684035Humanname
126747207CV1017275single nucleotide variantNM_003638.3(ITGA8):c.158A>G (p.Lys53Arg)Renal hypodysplasia/aplasia 1 [RCV001331092]uncertain significance101571961415719614Human2name
152117485CV1633596single nucleotide variantNM_003638.3(ITGA8):c.2616T>C (p.Asn872=)not provided [RCV002117391]likely benign101557223215572232Humanname
156439106CV1943975single nucleotide variantNM_003638.3(ITGA8):c.2148G>A (p.Lys716=)not provided [RCV003109060]uncertain significance101559727015597270Humanname
156243755CV1973322single nucleotide variantNM_003638.3(ITGA8):c.2055A>G (p.Glu685=)not provided [RCV002597234]likely benign101560427115604271Humanname
156379660CV2060676single nucleotide variantNM_003638.3(ITGA8):c.2016C>T (p.Leu672=)not provided [RCV002814989]likely benign101560431015604310Humanname
155962397CV2080531single nucleotide variantNM_003638.3(ITGA8):c.2046A>C (p.Gly682=)not provided [RCV002862920]likely benign101560428015604280Humanname
156136743CV2113372single nucleotide variantNM_003638.3(ITGA8):c.1197T>C (p.Asp399=)not provided [RCV002928406]likely benign101564685615646856Humanname
156326745CV2116063single nucleotide variantNM_003638.3(ITGA8):c.2817C>T (p.Leu939=)not provided [RCV002938126]likely benign101554851815548518Humanname
156024619CV2128830single nucleotide variantNM_003638.3(ITGA8):c.1455G>A (p.Pro485=)ITGA8-related disorder [RCV003936453]|not provided [RCV002948940]benign|likely benign101561375815613758Human1name , trait , alternate_id
156147205CV2130967single nucleotide variantNM_003638.3(ITGA8):c.2523G>A (p.Glu841=)not provided [RCV002982525]likely benign101557232515572325Humanname
156073812CV2165339single nucleotide variantNM_003638.3(ITGA8):c.2613T>C (p.Pro871=)not provided [RCV003037650]likely benign101557223515572235Humanname
156313240CV2256986single nucleotide variantNM_003638.3(ITGA8):c.149G>A (p.Ser50Asn)Inborn genetic diseases [RCV002809231]uncertain significance101571962315719623Human1name
155905475CV2286014single nucleotide variantNM_003638.3(ITGA8):c.160G>T (p.Gly54Cys)Inborn genetic diseases [RCV002837149]uncertain significance101571961215719612Human1name
156182207CV2338185single nucleotide variantNM_003638.3(ITGA8):c.281A>G (p.Tyr94Cys)Inborn genetic diseases [RCV002956470]uncertain significance101571882815718828Human1name
405213134CV2878805single nucleotide variantNM_003638.3(ITGA8):c.1746T>C (p.Asp582=)not provided [RCV003552851]likely benign101560769515607695Humanname
405237770CV2881102single nucleotide variantNM_003638.3(ITGA8):c.2841G>T (p.Leu947=)not provided [RCV003556643]likely benign101554849415548494Humanname
405147980CV2881783single nucleotide variantNM_003638.3(ITGA8):c.1176C>T (p.His392=)not provided [RCV003561512]benign101564687715646877Humanname
405030383CV2925991single nucleotide variantNM_003638.3(ITGA8):c.1146G>C (p.Thr382=)not provided [RCV003578246]likely benign101564690715646907Humanname
405165711CV3018811single nucleotide variantNM_003638.3(ITGA8):c.2796C>T (p.Ile932=)not provided [RCV003704293]likely benign101554853915548539Humanname
405183271CV3031956single nucleotide variantNM_003638.3(ITGA8):c.2748G>A (p.Gln916=)not provided [RCV003705755]likely benign101555809215558092Humanname
405231620CV3070576single nucleotide variantNM_003638.3(ITGA8):c.1944T>A (p.Val648=)not provided [RCV003734938]benign101560575015605750Humanname
405201752CV3129052single nucleotide variantNM_003638.3(ITGA8):c.2709C>A (p.Val903=)not provided [RCV003822095]likely benign101555813115558131Humanname
402466942CV3177811single nucleotide variantNM_003638.3(ITGA8):c.1548T>C (p.Ala516=)ITGA8-related disorder [RCV003966734]|not provided [RCV003873249]likely benign101561366515613665Human1name , trait , alternate_id
405258664CV3194098single nucleotide variantNM_003638.3(ITGA8):c.2430G>A (p.Glu810=)ITGA8-related disorder [RCV003893680]likely benign101557553715575537Humanname , trait , alternate_id
405259267CV3194625single nucleotide variantNM_003638.3(ITGA8):c.1611C>G (p.Val537=)ITGA8-related disorder [RCV003894019]likely benign101560783015607830Humanname , trait , alternate_id
405269545CV3201659single nucleotide variantNM_003638.3(ITGA8):c.2673C>T (p.Ser891=)ITGA8-related disorder [RCV003899567]|not provided [RCV005101587]likely benign101555816715558167Human1name , trait , alternate_id
405289303CV3205095single nucleotide variantNM_003638.3(ITGA8):c.2274C>T (p.Phe758=)ITGA8-related disorder [RCV003961705]likely benign101559224215592242Humanname , trait , alternate_id
405258050CV3208121single nucleotide variantNM_003638.3(ITGA8):c.1728A>G (p.Lys576=)ITGA8-related disorder [RCV003941570]likely benign101560771315607713Humanname , trait , alternate_id
405871978CV3398169single nucleotide variantNM_003638.3(ITGA8):c.2745A>G (p.Arg915=)not provided [RCV004575170]likely benign101555809515558095Humanname
408383629CV3506751single nucleotide variantNM_003638.3(ITGA8):c.168C>A (p.Tyr56Ter)ITGA8-related disorder [RCV004730698]uncertain significance101571960415719604Humanname , trait , alternate_id
596930056CV3531329duplicationNM_003638.3(ITGA8):c.360dup (p.Val121fs)not provided [RCV004779903]pathogenic101568802115688022Humanname
597701203CV3686850single nucleotide variantNM_003638.3(ITGA8):c.178G>A (p.Ala60Thr)Inborn genetic diseases [RCV004988045]uncertain significance101571959415719594Human1name
597701225CV3686854single nucleotide variantNM_003638.3(ITGA8):c.217G>T (p.Val73Phe)Inborn genetic diseases [RCV004988049]uncertain significance101571889215718892Human1name
597899567CV3740953single nucleotide variantNM_003638.3(ITGA8):c.1908C>T (p.His636=)not provided [RCV005072116]likely benign101560578615605786Humanname
597853252CV3743486single nucleotide variantNM_003638.3(ITGA8):c.1512T>C (p.Asn504=)not provided [RCV005060836]likely benign101561370115613701Humanname
597831455CV3750952single nucleotide variantNM_003638.3(ITGA8):c.1947T>C (p.Pro649=)not provided [RCV005084696]likely benign101560574715605747Humanname
597943318CV3757956single nucleotide variantNM_003638.3(ITGA8):c.2676C>T (p.Ala892=)not provided [RCV005077955]likely benign101555816415558164Humanname
597858019CV3769575single nucleotide variantNM_003638.3(ITGA8):c.1569A>G (p.Val523=)not provided [RCV005105617]likely benign101560827515608275Humanname
597891832CV3785050single nucleotide variantNM_003638.3(ITGA8):c.1146G>A (p.Thr382=)not provided [RCV005125829]likely benign101564690715646907Humanname
597961114CV3794824single nucleotide variantNM_003638.3(ITGA8):c.1566A>G (p.Arg522=)not provided [RCV005138729]likely benign101560827815608278Humanname
597966099CV3823687single nucleotide variantNM_003638.3(ITGA8):c.1692T>C (p.Ala564=)not provided [RCV005165107]likely benign101560774915607749Humanname
597888014CV3859427single nucleotide variantNM_003638.3(ITGA8):c.2943T>C (p.Tyr981=)not provided [RCV005200083]likely benign101553108915531089Humanname
598225613CV3894275single nucleotide variantNM_003638.3(ITGA8):c.1353C>A (p.Gly451=)not provided [RCV005257518]likely benign101564407615644076Humanname
598195690CV3972675single nucleotide variantNM_003638.3(ITGA8):c.119A>C (p.Asn40Thr)Inborn genetic diseases [RCV005355042]uncertain significance101571965315719653Human1name
15101504CV701268single nucleotide variantNM_003638.3(ITGA8):c.2100A>G (p.Gly700=)not provided [RCV000959103]benign101560422615604226Humanname
15118536CV712285single nucleotide variantNM_003638.3(ITGA8):c.1936C>T (p.Leu646=)not provided [RCV000962398]benign|likely benign101560575815605758Humanname
15158358CV723867single nucleotide variantNM_003638.3(ITGA8):c.2352A>G (p.Val784=)not provided [RCV000880992]benign101558660415586604Humanname
15188058CV723870single nucleotide variantNM_003638.3(ITGA8):c.1065A>G (p.Arg355=)not provided [RCV000887425]likely benign101564698815646988Humanname
15157097CV737426single nucleotide variantNM_003638.3(ITGA8):c.2664T>G (p.Pro888=)not provided [RCV000902458]likely benign101555817615558176Humanname
15131731CV767679single nucleotide variantNM_003638.3(ITGA8):c.2661C>T (p.Thr887=)not provided [RCV000942277]likely benign101555817915558179Humanname
15171795CV767680single nucleotide variantNM_003638.3(ITGA8):c.1269T>C (p.Asn423=)not provided [RCV000927976]likely benign101564416015644160Humanname
21072899CV796383single nucleotide variantNM_003638.3(ITGA8):c.196C>T (p.Pro66Ser)Renal hypodysplasia/aplasia 1 [RCV005359730]|not provided [RCV000994357]uncertain significance101571957615719576Human2name
126731374CV1000692duplicationNM_003638.3(ITGA8):c.1123dup (p.Gln375fs)not provided [RCV001310565]likely pathogenic101564692915646930Humanname
126731380CV1000693single nucleotide variantNM_003638.3(ITGA8):c.722C>A (p.Ser241Ter)not provided [RCV001310566]likely pathogenic101567270415672704Humanname
126727125CV1017274single nucleotide variantNM_003638.3(ITGA8):c.468G>A (p.Trp156Ter)Renal hypodysplasia/aplasia 1 [RCV001332305]pathogenic101568410415684104Human1name
150502792CV1212321deletionNM_003638.3(ITGA8):c.1971-226_1971-224delnot provided [RCV001595195]benign101560457915604581Humanname
150494110CV1226095deletionNM_003638.3(ITGA8):c.1971-225_1971-224delnot provided [RCV001619313]benign101560457915604580Humanname
8591278CV132025single nucleotide variantNM_003638.3(ITGA8):c.764C>T (p.Thr255Met)not provided [RCV000114396]uncertain significance101567266215672662Humanname
155267008CV1696451single nucleotide variantNM_003638.3(ITGA8):c.361G>A (p.Val121Ile)not provided [RCV002281309]uncertain significance101568802115688021Humanname
155265974CV1704850duplicationNM_003638.3(ITGA8):c.2804dup (p.Val936fs)Renal hypodysplasia/aplasia 1 [RCV002285095]pathogenic101554853015548531Human2name
156322272CV1873271single nucleotide variantNM_003638.3(ITGA8):c.604G>A (p.Ala202Thr)not provided [RCV003063154]uncertain significance101567874815678748Humanname
156449814CV1942084single nucleotide variantNM_003638.3(ITGA8):c.647T>C (p.Val216Ala)not provided [RCV003121941]uncertain significance101567762115677621Humanname
156126838CV1969461single nucleotide variantNM_003638.3(ITGA8):c.892G>A (p.Val298Ile)Inborn genetic diseases [RCV002593342]|not provided [RCV002587773]uncertain significance101565905515659055Human1name
156420031CV1979384single nucleotide variantNM_003638.3(ITGA8):c.482C>T (p.Pro161Leu)Inborn genetic diseases [RCV002613282]|not provided [RCV002613281]uncertain significance101568409015684090Human1name
156098403CV2004783single nucleotide variantNM_003638.3(ITGA8):c.737T>G (p.Leu246Arg)not provided [RCV002639487]uncertain significance101567268915672689Humanname
156041596CV2044093single nucleotide variantNM_003638.3(ITGA8):c.308C>T (p.Ser103Phe)not provided [RCV002781513]uncertain significance101571880115718801Humanname
156210837CV2103292single nucleotide variantNM_003638.3(ITGA8):c.482C>A (p.Pro161Gln)not provided [RCV002918155]likely benign101568409015684090Humanname
156244573CV2105544single nucleotide variantNM_003638.3(ITGA8):c.3189A>G (p.Ala1063=)not provided [RCV002933325]likely benign101551716115517161Humanname
156100388CV2117146single nucleotide variantNM_003638.3(ITGA8):c.3150C>A (p.Thr1050=)not provided [RCV002952719]benign101551720015517200Humanname
156298283CV2119353single nucleotide variantNM_003638.3(ITGA8):c.911C>T (p.Thr304Met)Inborn genetic diseases [RCV002962020]|not provided [RCV002962019]uncertain significance101565903615659036Human1name
156095590CV2139593single nucleotide variantNM_003638.3(ITGA8):c.749C>G (p.Ala250Gly)not provided [RCV002979778]uncertain significance101567267715672677Humanname
156237221CV2206828single nucleotide variantNM_003638.3(ITGA8):c.371C>T (p.Thr124Ile)Inborn genetic diseases [RCV002701610]uncertain significance101568801115688011Human1name
156135709CV2213465single nucleotide variantNM_003638.3(ITGA8):c.530A>C (p.Asn177Thr)Inborn genetic diseases [RCV002696735]uncertain significance101568404215684042Human1name
155934786CV2225404single nucleotide variantNM_003638.3(ITGA8):c.635G>A (p.Gly212Glu)Inborn genetic diseases [RCV002729292]uncertain significance101567763315677633Human1name
156272442CV2247412single nucleotide variantNM_003638.3(ITGA8):c.311C>T (p.Ala104Val)Inborn genetic diseases [RCV002792561]uncertain significance101571879815718798Human1name
156028617CV2278546single nucleotide variantNM_003638.3(ITGA8):c.418G>A (p.Val140Met)Inborn genetic diseases [RCV002845212]uncertain significance101568796415687964Human1name
156396541CV2322438single nucleotide variantNM_003638.3(ITGA8):c.481C>T (p.Pro161Ser)Inborn genetic diseases [RCV002944984]uncertain significance101568409115684091Human1name
156182306CV2338193single nucleotide variantNM_003638.3(ITGA8):c.851T>C (p.Leu284Ser)Inborn genetic diseases [RCV002956476]uncertain significance101566091915660919Human1name
329395132CV2473034single nucleotide variantNM_003638.3(ITGA8):c.707T>A (p.Ile236Asn)not provided [RCV003219018]uncertain significance101567271915672719Humanname
401886970CV2777045single nucleotide variantNM_003638.3(ITGA8):c.742A>C (p.Lys248Gln)Inborn genetic diseases [RCV003366987]uncertain significance101567268415672684Human1name
405158251CV3024784single nucleotide variantNM_003638.3(ITGA8):c.3085T>C (p.Leu1029=)not provided [RCV003703781]likely benign101551931015519310Humanname
405082038CV3046802single nucleotide variantNM_003638.3(ITGA8):c.405G>C (p.Trp135Cys)not provided [RCV003717209]likely benign101568797715687977Humanname
405805656CV3267949single nucleotide variantNM_003638.3(ITGA8):c.656C>T (p.Pro219Leu)Inborn genetic diseases [RCV004405654]uncertain significance101567761215677612Human1name
407458699CV3451613single nucleotide variantNM_003638.3(ITGA8):c.979G>A (p.Val327Ile)Inborn genetic diseases [RCV004633379]uncertain significance101565537615655376Human1name
408366609CV3512829single nucleotide variantNM_003638.3(ITGA8):c.739A>G (p.Arg247Gly)ITGA8-related disorder [RCV004756866]|Inborn genetic diseases [RCV004987203]uncertain significance101567268715672687Human2name , trait , alternate_id
597701132CV3686837single nucleotide variantNM_003638.3(ITGA8):c.670T>C (p.Trp224Arg)Inborn genetic diseases [RCV004988032]uncertain significance101567759815677598Human1name
597701172CV3686844single nucleotide variantNM_003638.3(ITGA8):c.880A>C (p.Asn294His)Inborn genetic diseases [RCV004988039]uncertain significance101566089015660890Human1name
597701182CV3686846single nucleotide variantNM_003638.3(ITGA8):c.605C>G (p.Ala202Gly)Inborn genetic diseases [RCV004988041]uncertain significance101567874715678747Human1name
597701199CV3686849single nucleotide variantNM_003638.3(ITGA8):c.770T>G (p.Val257Gly)Inborn genetic diseases [RCV004988044]uncertain significance101567265615672656Human1name
598171031CV3972668single nucleotide variantNM_003638.3(ITGA8):c.752G>A (p.Gly251Glu)Inborn genetic diseases [RCV005370489]uncertain significance101567267415672674Human1name
598171035CV3972671single nucleotide variantNM_003638.3(ITGA8):c.938C>T (p.Thr313Met)Inborn genetic diseases [RCV005370490]uncertain significance101565900915659009Human1name
598195694CV3972676single nucleotide variantNM_003638.3(ITGA8):c.635G>C (p.Gly212Ala)Inborn genetic diseases [RCV005355043]uncertain significance101567763315677633Human1name
598195696CV3972677single nucleotide variantNM_003638.3(ITGA8):c.961T>C (p.Phe321Leu)Inborn genetic diseases [RCV005355044]uncertain significance101565539415655394Human1name
616938816CV4015858single nucleotide variantNM_003638.3(ITGA8):c.467G>A (p.Trp156Ter)Renal hypodysplasia/aplasia 1 [RCV005414410]pathogenic101568410515684105Human2name
13475742CV444575duplicationNM_003638.3(ITGA8):c.2174dup (p.Cys726fs)not provided [RCV000519968]pathogenic101559724315597244Humanname
13528632CV513591single nucleotide variantNM_003638.3(ITGA8):c.537C>A (p.Ser179Arg)Renal hypodysplasia/aplasia 1 [RCV000626065]pathogenic|likely benign101568403515684035Human2name
13831776CV582273single nucleotide variantNM_003638.3(ITGA8):c.404G>A (p.Trp135Ter)not provided [RCV000722458]uncertain significance101568797815687978Humanname
15198614CV701270single nucleotide variantNM_003638.3(ITGA8):c.646G>C (p.Val216Leu)not provided [RCV000956810]benign101567762215677622Human3name
15198614CV701270single nucleotide variantNM_003638.3(ITGA8):c.646G>C (p.Val216Leu)not provided [RCV000956810]benign101567762215677623Human3name
15149929CV723871single nucleotide variantNM_003638.3(ITGA8):c.901A>T (p.Ile301Phe)not provided [RCV000879269]benign101565904615659046Humanname
15200767CV767678single nucleotide variantNM_003638.3(ITGA8):c.3078C>T (p.Leu1026=)not provided [RCV000935472]likely benign101551931715519317Humanname
126731370CV1000691single nucleotide variantNM_003638.3(ITGA8):c.1592G>A (p.Ser531Asn)not provided [RCV001310564]uncertain significance101560825215608252Humanname
126732900CV1020707single nucleotide variantNM_003638.3(ITGA8):c.1156T>C (p.Phe386Leu)Inborn genetic diseases [RCV004988551]|Renal hypodysplasia/aplasia 1 [RCV001334156]uncertain significance101564689715646897Human3name
150337630CV1172078single nucleotide variantNM_003638.3(ITGA8):c.1742A>C (p.Gln581Pro)not provided [RCV001541772]benign101560769915607699Humanname
150517375CV1226825single nucleotide variantNM_003638.3(ITGA8):c.1730C>T (p.Ser577Phe)not provided [RCV001639919]benign101560771115607711Humanname
150482290CV1279950single nucleotide variantNM_003638.3(ITGA8):c.2981T>C (p.Val994Ala)Renal hypodysplasia/aplasia 1 [RCV001730990]|not provided [RCV001714999]benign101553105115531051Human2name
150542601CV1314865single nucleotide variantNM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter)Renal hypodysplasia/aplasia 1 [RCV001782316]likely pathogenic101557222215572222Human2name
8555361CV132024single nucleotide variantNM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg)ITGA8-related disorder [RCV004755774]|Renal hypodysplasia/aplasia 1 [RCV000114395]pathogenic|likely pathogenic101564421015644210Human3name , trait , alternate_id
151757276CV1340373single nucleotide variantNM_003638.3(ITGA8):c.1534T>C (p.Ser512Pro)not provided [RCV001913581]uncertain significance101561367915613679Humanname
151887722CV1409068single nucleotide variantNM_003638.3(ITGA8):c.1654G>A (p.Ala552Thr)not provided [RCV001942447]uncertain significance101560778715607787Humanname
151869585CV1412138single nucleotide variantNM_003638.3(ITGA8):c.2367A>G (p.Ile789Met)not provided [RCV001884970]uncertain significance101558658915586589Humanname
151845126CV1501565single nucleotide variantNM_003638.3(ITGA8):c.1580T>C (p.Val527Ala)Inborn genetic diseases [RCV004982830]|not provided [RCV002015806]uncertain significance101560826415608264Human1name
156401224CV1889084single nucleotide variantNM_003638.3(ITGA8):c.2542G>T (p.Ala848Ser)Inborn genetic diseases [RCV003294462]|not provided [RCV003069154]uncertain significance101557230615572306Human1name
156088637CV1899140single nucleotide variantNM_003638.3(ITGA8):c.2546G>A (p.Arg849Gln)not provided [RCV003080125]uncertain significance101557230215572302Humanname
156357239CV1901263single nucleotide variantNM_003638.3(ITGA8):c.2107C>T (p.Arg703Cys)not provided [RCV002602253]uncertain significance101560421915604219Humanname
156371727CV1901445single nucleotide variantNM_003638.3(ITGA8):c.1911T>G (p.Ile637Met)Inborn genetic diseases [RCV004068784]|not provided [RCV002582467]uncertain significance101560578315605783Human1name
156377218CV1913884single nucleotide variantNM_003638.3(ITGA8):c.2833G>A (p.Ala945Thr)not provided [RCV002603682]uncertain significance101554850215548502Humanname
156437161CV1936988single nucleotide variantNM_003638.3(ITGA8):c.1763G>A (p.Arg588Gln)Inborn genetic diseases [RCV004244525]|not provided [RCV003106692]uncertain significance101560767815607678Human1name
155929529CV1946869single nucleotide variantNM_003638.3(ITGA8):c.1175A>G (p.His392Arg)Inborn genetic diseases [RCV002970507]|not provided [RCV003108207]uncertain significance101564687815646878Human1name
156143301CV1957384single nucleotide variantNM_003638.3(ITGA8):c.1567G>C (p.Val523Leu)Inborn genetic diseases [RCV002577315]|not provided [RCV002572648]uncertain significance101560827715608277Human1name
156375037CV1960048single nucleotide variantNM_003638.3(ITGA8):c.1505T>C (p.Leu502Pro)not provided [RCV002582730]uncertain significance101561370815613708Humanname
156415851CV1987605single nucleotide variantNM_003638.3(ITGA8):c.2782G>A (p.Glu928Lys)not provided [RCV002609868]uncertain significance101554855315548553Humanname
156098287CV2004774single nucleotide variantNM_003638.3(ITGA8):c.1396C>T (p.Pro466Ser)not provided [RCV002639482]uncertain significance101564403315644033Humanname
156060187CV2008222single nucleotide variantNM_003638.3(ITGA8):c.1237A>G (p.Lys413Glu)not provided [RCV002705358]uncertain significance101564419215644192Humanname
156211660CV2018896single nucleotide variantNM_003638.3(ITGA8):c.1447G>A (p.Ala483Thr)not provided [RCV002700650]uncertain significance101561376615613766Humanname
156374989CV2024605single nucleotide variantNM_003638.3(ITGA8):c.1364G>A (p.Arg455Lys)not provided [RCV002721841]uncertain significance101564406515644065Humanname
156114259CV2065606single nucleotide variantNM_003638.3(ITGA8):c.2713A>C (p.Lys905Gln)not provided [RCV002871017]uncertain significance101555812715558127Humanname
156066111CV2092814single nucleotide variantNM_003638.3(ITGA8):c.2524G>A (p.Val842Met)Inborn genetic diseases [RCV002886664]|not provided [RCV002886665]uncertain significance101557232415572324Human1name
156326151CV2108579single nucleotide variantNM_003638.3(ITGA8):c.2921T>C (p.Phe974Ser)Inborn genetic diseases [RCV002938095]|not provided [RCV002938094]uncertain significance101553111115531111Human1name
156321645CV2112077single nucleotide variantNM_003638.3(ITGA8):c.1492A>G (p.Met498Val)not provided [RCV002937795]likely benign101561372115613721Humanname
156309878CV2119922single nucleotide variantNM_003638.3(ITGA8):c.2445G>T (p.Glu815Asp)Inborn genetic diseases [RCV002962557]|not provided [RCV002962558]uncertain significance101557552215575522Human1name
156374830CV2123993single nucleotide variantNM_003638.3(ITGA8):c.1877A>G (p.Tyr626Cys)not provided [RCV002942619]uncertain significance101560631015606310Humanname
156139385CV2129381single nucleotide variantNM_003638.3(ITGA8):c.1502A>G (p.Asn501Ser)not provided [RCV002954170]uncertain significance101561371115613711Humanname
155910066CV2131162single nucleotide variantNM_003638.3(ITGA8):c.2341A>G (p.Ile781Val)ITGA8-related disorder [RCV003906423]|not provided [RCV002967978]likely benign101558661515586615Human1name , trait , alternate_id
156095560CV2139592single nucleotide variantNM_003638.3(ITGA8):c.1553G>A (p.Cys518Tyr)not provided [RCV002979777]uncertain significance101561366015613660Humanname
155969836CV2157924single nucleotide variantNM_003638.3(ITGA8):c.1079T>G (p.Ile360Ser)not provided [RCV003033382]uncertain significance101564697415646974Humanname
156333380CV2172032single nucleotide variantNM_003638.3(ITGA8):c.2703T>A (p.His901Gln)not provided [RCV003029893]uncertain significance101555813715558137Humanname
156253423CV2193067single nucleotide variantNM_003638.3(ITGA8):c.1781G>A (p.Arg594Gln)Inborn genetic diseases [RCV002668520]uncertain significance101560640615606406Human1name
156068290CV2193715single nucleotide variantNM_003638.3(ITGA8):c.2723T>C (p.Val908Ala)Inborn genetic diseases [RCV002660090]uncertain significance101555811715558117Human1name
156110372CV2207601single nucleotide variantNM_003638.3(ITGA8):c.2813G>A (p.Arg938Gln)Inborn genetic diseases [RCV002707159]uncertain significance101554852215548522Human1name
156282156CV2220714single nucleotide variantNM_003638.3(ITGA8):c.1501A>C (p.Asn501His)Inborn genetic diseases [RCV002747170]uncertain significance101561371215613712Human1name
156203410CV2234614single nucleotide variantNM_003638.3(ITGA8):c.2545C>G (p.Arg849Gly)Inborn genetic diseases [RCV002743593]uncertain significance101557230315572303Human1name
156168636CV2247260single nucleotide variantNM_003638.3(ITGA8):c.2224C>T (p.Leu742Phe)Inborn genetic diseases [RCV002787929]uncertain significance101559229215592292Human1name
155946340CV2266078single nucleotide variantNM_003638.3(ITGA8):c.1472C>T (p.Ala491Val)Inborn genetic diseases [RCV002839868]uncertain significance101561374115613741Human1name
155914570CV2268417single nucleotide variantNM_003638.3(ITGA8):c.2793A>C (p.Gln931His)Inborn genetic diseases [RCV002858749]uncertain significance101554854215548542Human1name
156125067CV2283600single nucleotide variantNM_003638.3(ITGA8):c.2699C>G (p.Pro900Arg)Inborn genetic diseases [RCV002849322]uncertain significance101555814115558141Human1name
155905055CV2298916single nucleotide variantNM_003638.3(ITGA8):c.1811T>C (p.Leu604Ser)Inborn genetic diseases [RCV002901659]uncertain significance101560637615606376Human1name
156386315CV2364715single nucleotide variantNM_003638.3(ITGA8):c.2771G>C (p.Cys924Ser)Inborn genetic diseases [RCV002679838]uncertain significance101554856415548564Human1name
156099783CV2392892single nucleotide variantNM_003638.3(ITGA8):c.1969C>T (p.Pro657Ser)Inborn genetic diseases [RCV002784841]uncertain significance101560572515605725Human1name
156149457CV2394579single nucleotide variantNM_003638.3(ITGA8):c.1409T>C (p.Val470Ala)ITGA8-related disorder [RCV004756487]|Inborn genetic diseases [RCV002764026]uncertain significance101561655015616550Human2name , trait , alternate_id
156151408CV2394747single nucleotide variantNM_003638.3(ITGA8):c.2443G>A (p.Glu815Lys)Inborn genetic diseases [RCV002764138]uncertain significance101557552415575524Human1name
156004902CV2397006single nucleotide variantNM_003638.3(ITGA8):c.1336G>A (p.Val446Ile)ITGA8-related disorder [RCV004756486]|Inborn genetic diseases [RCV002734474]likely benign|uncertain significance101564409315644093Human2name , trait , alternate_id
243057900CV2405549single nucleotide variantNM_003638.3(ITGA8):c.1159G>A (p.Gly387Ser)Inborn genetic diseases [RCV003164824]|Renal hypodysplasia/aplasia 1 [RCV003133754]uncertain significance101564689415646894Human3name
243057904CV2405551single nucleotide variantNM_003638.3(ITGA8):c.2075T>A (p.Ile692Lys)Renal hypodysplasia/aplasia 1 [RCV003133756]uncertain significance101560425115604251Human2name
329382265CV2438658single nucleotide variantNM_003638.3(ITGA8):c.1524G>T (p.Gln508His)Inborn genetic diseases [RCV003175940]uncertain significance101561368915613689Human1name
329355898CV2442385single nucleotide variantNM_003638.3(ITGA8):c.1438G>A (p.Val480Ile)Inborn genetic diseases [RCV003203055]uncertain significance101561652115616521Human1name
329388680CV2447763single nucleotide variantNM_003638.3(ITGA8):c.2275G>A (p.Asp759Asn)Inborn genetic diseases [RCV003190739]uncertain significance101559224115592241Human1name
329390861CV2455545single nucleotide variantNM_003638.3(ITGA8):c.2383C>T (p.Pro795Ser)Inborn genetic diseases [RCV003217010]uncertain significance101557558415575584Human1name
329397461CV2456194single nucleotide variantNM_003638.3(ITGA8):c.1435G>T (p.Ala479Ser)Inborn genetic diseases [RCV003195543]uncertain significance101561652415616524Human1name
329353007CV2468168single nucleotide variantNM_003638.3(ITGA8):c.2444A>G (p.Glu815Gly)Inborn genetic diseases [RCV003200943]uncertain significance101557552315575523Human1name
329394930CV2472979single nucleotide variantNM_003638.3(ITGA8):c.2317A>C (p.Asn773His)not provided [RCV003218962]uncertain significance101558663915586639Humanname
401728776CV2673043single nucleotide variantNM_003638.3(ITGA8):c.2387C>T (p.Pro796Leu)Inborn genetic diseases [RCV003247585]uncertain significance101557558015575580Human1name
401740396CV2684348single nucleotide variantNM_003638.3(ITGA8):c.2674G>A (p.Ala892Thr)Inborn genetic diseases [RCV003240653]uncertain significance101555816615558166Human1name
401733149CV2685441single nucleotide variantNM_003638.3(ITGA8):c.1125G>T (p.Gln375His)Inborn genetic diseases [RCV003249106]uncertain significance101564692815646928Human1name
401750444CV2696055single nucleotide variantNM_003638.3(ITGA8):c.2054A>C (p.Glu685Ala)Inborn genetic diseases [RCV003253653]uncertain significance101560427215604272Human1name
401763503CV2714576single nucleotide variantNM_003638.3(ITGA8):c.1706C>T (p.Pro569Leu)Inborn genetic diseases [RCV003258231]uncertain significance101560773515607735Human1name
401767278CV2718442single nucleotide variantNM_003638.3(ITGA8):c.1424C>A (p.Thr475Lys)Inborn genetic diseases [RCV003282812]uncertain significance101561653515616535Human1name
401772374CV2719623single nucleotide variantNM_003638.3(ITGA8):c.1559C>A (p.Ser520Tyr)Inborn genetic diseases [RCV003304652]uncertain significance101560828515608285Human1name
401766328CV2725328single nucleotide variantNM_003638.3(ITGA8):c.1114A>G (p.Arg372Gly)Inborn genetic diseases [RCV003282524]uncertain significance101564693915646939Human1name
401887272CV2771850single nucleotide variantNM_003638.3(ITGA8):c.1788A>T (p.Lys596Asn)Inborn genetic diseases [RCV003352319]uncertain significance101560639915606399Human1name
401865837CV2786169single nucleotide variantNM_003638.3(ITGA8):c.1082A>C (p.Tyr361Ser)Inborn genetic diseases [RCV003379478]uncertain significance101564697115646971Human1name
401919804CV2794955single nucleotide variantNM_003638.3(ITGA8):c.1961C>T (p.Ser654Leu)Renal hypodysplasia/aplasia 1 [RCV003388701]uncertain significance101560573315605733Human2name
401901783CV2804708single nucleotide variantNM_003638.3(ITGA8):c.1492A>C (p.Met498Leu)ITGA8-related disorder [RCV003393218]uncertain significance101561372115613721Humanname , trait , alternate_id
405082247CV3017000single nucleotide variantNM_003638.3(ITGA8):c.2574T>G (p.His858Gln)not provided [RCV003699132]uncertain significance101557227415572274Humanname
405141775CV3046145single nucleotide variantNM_003638.3(ITGA8):c.1991T>C (p.Ile664Thr)not provided [RCV003725708]uncertain significance101560433515604335Humanname
405192491CV3069941single nucleotide variantNM_003638.3(ITGA8):c.2734G>A (p.Glu912Lys)not provided [RCV003729736]uncertain significance101555810615558106Humanname
405805634CV3267938single nucleotide variantNM_003638.3(ITGA8):c.1525G>T (p.Val509Phe)Inborn genetic diseases [RCV004405643]uncertain significance101561368815613688Human1name
405805636CV3267939single nucleotide variantNM_003638.3(ITGA8):c.1571G>C (p.Cys524Ser)Inborn genetic diseases [RCV004405644]uncertain significance101560827315608273Human1name
405805639CV3267940single nucleotide variantNM_003638.3(ITGA8):c.1624G>T (p.Val542Leu)Inborn genetic diseases [RCV004405645]uncertain significance101560781715607817Human1name
405805642CV3267942single nucleotide variantNM_003638.3(ITGA8):c.2104G>A (p.Glu702Lys)Inborn genetic diseases [RCV004405647]uncertain significance101560422215604222Human1name
405805644CV3267943single nucleotide variantNM_003638.3(ITGA8):c.2194A>G (p.Met732Val)Inborn genetic diseases [RCV004405648]uncertain significance101559722415597224Human1name
405805646CV3267944single nucleotide variantNM_003638.3(ITGA8):c.2362G>A (p.Glu788Lys)Inborn genetic diseases [RCV004405649]uncertain significance101558659415586594Human1name
405805648CV3267945single nucleotide variantNM_003638.3(ITGA8):c.2442G>C (p.Glu814Asp)Inborn genetic diseases [RCV004405650]uncertain significance101557552515575525Human1name
405805650CV3267946single nucleotide variantNM_003638.3(ITGA8):c.2926G>A (p.Val976Ile)Inborn genetic diseases [RCV004405651]uncertain significance101553110615531106Human1name
405805652CV3267947single nucleotide variantNM_003638.3(ITGA8):c.2975G>A (p.Ser992Asn)Inborn genetic diseases [RCV004405652]|not provided [RCV005104482]uncertain significance101553105715531057Human1name
407458697CV3451612single nucleotide variantNM_003638.3(ITGA8):c.1393T>C (p.Tyr465His)Inborn genetic diseases [RCV004633378]uncertain significance101564403615644036Human1name
407458702CV3451614single nucleotide variantNM_003638.3(ITGA8):c.2774C>A (p.Thr925Lys)Inborn genetic diseases [RCV004633380]uncertain significance101554856115548561Human1name
407458705CV3451615single nucleotide variantNM_003638.3(ITGA8):c.2849G>C (p.Arg950Thr)Inborn genetic diseases [RCV004633381]uncertain significance101554848615548486Human1name
407458707CV3451616single nucleotide variantNM_003638.3(ITGA8):c.1891G>C (p.Val631Leu)Inborn genetic diseases [RCV004633382]uncertain significance101560629615606296Human1name
407458710CV3451617single nucleotide variantNM_003638.3(ITGA8):c.2387C>G (p.Pro796Arg)Inborn genetic diseases [RCV004633383]uncertain significance101557558015575580Human1name
407458717CV3451620single nucleotide variantNM_003638.3(ITGA8):c.1696C>A (p.Arg566Ser)Inborn genetic diseases [RCV004633386]uncertain significance101560774515607745Human1name
407458720CV3451621single nucleotide variantNM_003638.3(ITGA8):c.1279G>A (p.Asp427Asn)Inborn genetic diseases [RCV004633387]uncertain significance101564415015644150Human1name
408366750CV3515929single nucleotide variantNM_003638.3(ITGA8):c.1780C>T (p.Arg594Ter)ITGA8-related disorder [RCV004756991]pathogenic101560640715606407Humanname , trait , alternate_id
597701137CV3686838single nucleotide variantNM_003638.3(ITGA8):c.1064G>A (p.Arg355Lys)Inborn genetic diseases [RCV004988033]uncertain significance101564698915646989Human1name
597701142CV3686839single nucleotide variantNM_003638.3(ITGA8):c.2234C>T (p.Ala745Val)Inborn genetic diseases [RCV004988034]uncertain significance101559228215592282Human1name
597701148CV3686840single nucleotide variantNM_003638.3(ITGA8):c.2504T>C (p.Ile835Thr)Inborn genetic diseases [RCV004988035]uncertain significance101557234415572344Human1name
597701154CV3686841single nucleotide variantNM_003638.3(ITGA8):c.1667C>T (p.Thr556Met)Inborn genetic diseases [RCV004988036]uncertain significance101560777415607774Human1name
597701159CV3686842single nucleotide variantNM_003638.3(ITGA8):c.2275G>C (p.Asp759His)Inborn genetic diseases [RCV004988037]uncertain significance101559224115592241Human1name
597701166CV3686843single nucleotide variantNM_003638.3(ITGA8):c.1753G>A (p.Val585Ile)Inborn genetic diseases [RCV004988038]uncertain significance101560768815607688Human1name
597701188CV3686847single nucleotide variantNM_003638.3(ITGA8):c.2980G>A (p.Val994Ile)Inborn genetic diseases [RCV004988042]uncertain significance101553105215531052Human1name
597701193CV3686848single nucleotide variantNM_003638.3(ITGA8):c.2432C>T (p.Pro811Leu)Inborn genetic diseases [RCV004988043]uncertain significance101557553515575535Human1name
597701208CV3686851single nucleotide variantNM_003638.3(ITGA8):c.2748G>C (p.Gln916His)Inborn genetic diseases [RCV004988046]uncertain significance101555809215558092Human1name
597701214CV3686852single nucleotide variantNM_003638.3(ITGA8):c.1681A>G (p.Asn561Asp)Inborn genetic diseases [RCV004988047]uncertain significance101560776015607760Human1name
597701220CV3686853single nucleotide variantNM_003638.3(ITGA8):c.2108G>T (p.Arg703Leu)Inborn genetic diseases [RCV004988048]uncertain significance101560421815604218Human1name
597975523CV3799194single nucleotide variantNM_003638.3(ITGA8):c.2395G>T (p.Val799Phe)not provided [RCV005144590]likely benign101557557215575572Humanname
597948093CV3800870single nucleotide variantNM_003638.3(ITGA8):c.1345G>A (p.Gly449Arg)Inborn genetic diseases [RCV005353410]|not provided [RCV005135270]uncertain significance101564408415644084Human1name
598171025CV3972666single nucleotide variantNM_003638.3(ITGA8):c.1435G>A (p.Ala479Thr)Inborn genetic diseases [RCV005370487]uncertain significance101561652415616524Human1name
598171027CV3972667single nucleotide variantNM_003638.3(ITGA8):c.2725C>G (p.His909Asp)Inborn genetic diseases [RCV005370488]uncertain significance101555811515558115Human1name
598195669CV3972669single nucleotide variantNM_003638.3(ITGA8):c.2712G>C (p.Arg904Ser)Inborn genetic diseases [RCV005355037]uncertain significance101555812815558128Human1name
598195678CV3972672single nucleotide variantNM_003638.3(ITGA8):c.1984G>T (p.Val662Leu)Inborn genetic diseases [RCV005355039]uncertain significance101560434215604342Human1name
598195683CV3972673single nucleotide variantNM_003638.3(ITGA8):c.2077C>G (p.Pro693Ala)Inborn genetic diseases [RCV005355040]uncertain significance101560424915604249Human1name
598195684CV3972674single nucleotide variantNM_003638.3(ITGA8):c.2099G>C (p.Gly700Ala)Inborn genetic diseases [RCV005355041]uncertain significance101560422715604227Human1name
598171037CV3972678single nucleotide variantNM_003638.3(ITGA8):c.1690G>A (p.Ala564Thr)Inborn genetic diseases [RCV005370491]uncertain significance101560775115607751Human1name
598195700CV3972679single nucleotide variantNM_003638.3(ITGA8):c.1469A>C (p.Asp490Ala)Inborn genetic diseases [RCV005355045]uncertain significance101561374415613744Human1name
13832469CV582964single nucleotide variantNM_003638.3(ITGA8):c.2139T>G (p.Cys713Trp)not provided [RCV000723158]uncertain significance101559727915597279Humanname
15105338CV712283single nucleotide variantNM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)Renal hypodysplasia/aplasia 1 [RCV002489346]|not provided [RCV000959865]benign|likely benign101553105515531055Human2name
15118529CV712284single nucleotide variantNM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr)Renal hypodysplasia/aplasia 1 [RCV002489365]|not provided [RCV000962397]benign|likely benign101554853215548532Human2name
15108836CV723868single nucleotide variantNM_003638.3(ITGA8):c.2321T>A (p.Phe774Tyr)Inborn genetic diseases [RCV004629372]|not provided [RCV000893745]likely benign|uncertain significance101558663515586635Human1name
15160218CV723869single nucleotide variantNM_003638.3(ITGA8):c.2243G>A (p.Arg748His)not provided [RCV000881340]benign101559227315592273Humanname
8633565CV88780single nucleotide variantNM_003638.2(ITGA8):c.1528C>T (p.Pro510Ser)Malignant melanoma [RCV000068875]not provided101561368515613685Humanname
150458115CV1237170insertionNM_003638.3(ITGA8):c.1001+258_1001+259insAAnot provided [RCV001648849]benign101565509515655096Humanname
156158106CV2118394single nucleotide variantNM_003638.3(ITGA8):c.3079G>A (p.Ala1027Thr)Inborn genetic diseases [RCV004068069]|not provided [RCV002929141]likely benign|uncertain significance101551931615519316Human1name
156132722CV2195899single nucleotide variantNM_003638.3(ITGA8):c.3011C>T (p.Pro1004Leu)Inborn genetic diseases [RCV002640785]uncertain significance101551938415519384Human1name
155936424CV2380444single nucleotide variantNM_003638.3(ITGA8):c.3171T>A (p.Asn1057Lys)Inborn genetic diseases [RCV002729537]uncertain significance101551717915517179Human1name
401767825CV2677829single nucleotide variantNM_003638.3(ITGA8):c.3013A>G (p.Asn1005Asp)Inborn genetic diseases [RCV003259937]uncertain significance101551938215519382Human1name
597701177CV3686845single nucleotide variantNM_003638.3(ITGA8):c.3167C>A (p.Thr1056Lys)Inborn genetic diseases [RCV004988040]uncertain significance101551718315517183Human1name
8633564CV88779single nucleotide variantNM_003638.2(ITGA8):c.3020C>T (p.Ser1007Phe)Malignant melanoma [RCV000068874]not provided101551937515519375Humanname
8591277CV132023deletionNM_003638.3(ITGA8):c.1622_1626del (p.Glu541fs)Renal hypodysplasia/aplasia 1 [RCV000114394]pathogenic101560781515607819Human2name