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


230 records found for search term Gipc3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150414578CV1192127single nucleotide variantNM_133261.3(GIPC3):c.-46G>Cnot provided [RCV001567599]likely benign1935855523585552Humanname
150420272CV1199101single nucleotide variantNM_133261.3(GIPC3):c.*83G>Anot provided [RCV001577538]likely benign1935902733590273Humanname
150511054CV1229339single nucleotide variantNM_133261.3(GIPC3):c.-77G>Anot provided [RCV001637267]benign1935855213585521Humanname
150535668CV1311975deletionNM_133261.3(GIPC3):c.*15delnot provided [RCV001779786]likely benign1935901993590199Humanname
11092915CV230996single nucleotide variantNM_133261.3(GIPC3):c.*15G>Anot specified [RCV000219131]uncertain significance1935902053590205Humanname
13526378CV497732single nucleotide variantNM_133261.3(GIPC3):c.-15C>Tnot specified [RCV000604083]uncertain significance1935855833585583Humanname
150337083CV1166307single nucleotide variantNM_133261.3(GIPC3):c.*215C>Tnot provided [RCV001532367]likely benign1935904053590405Humanname
150492238CV1225435single nucleotide variantNM_133261.3(GIPC3):c.*146A>Gnot provided [RCV001618950]benign1935903363590336Humanname
153349644CV1693741single nucleotide variantNM_133261.3(GIPC3):c.*533T>Cnot provided [RCV002276060]likely benign1935907233590723Humanname
401725863CV2735982single nucleotide variantNM_133261.3(GIPC3):c.*563G>Tnot provided [RCV003312427]uncertain significance1935907533590753Humanname
401908223CV2815162single nucleotide variantNM_133261.3(GIPC3):c.*377C>Tnot provided [RCV003423193]likely benign1935905673590567Humanname
401906835CV2815163single nucleotide variantNM_133261.3(GIPC3):c.*677C>Tnot provided [RCV003421735]likely benign1935908673590867Humanname
401908224CV2815164single nucleotide variantNM_133261.3(GIPC3):c.*737T>Cnot provided [RCV003423194]likely benign1935909273590927Humanname
598129443CV3888740single nucleotide variantNM_133261.3(GIPC3):c.*983T>Cnot provided [RCV005244914]likely benign1935911733591173Humanname
598129504CV3888803single nucleotide variantNM_133261.3(GIPC3):c.*684A>Gnot provided [RCV005244977]likely benign1935908743590874Humanname
8636735CV91960single nucleotide variantNM_133261.2(GIPC3):c.*420G>AMalignant melanoma [RCV000072058]not provided1935906103590610Humanname
151856255CV1487536single nucleotide variantNM_133261.3(GIPC3):c.788-7C>Tnot provided [RCV001923434]likely benign|uncertain significance1935900323590032Humanname
152132046CV1521911single nucleotide variantNM_133261.3(GIPC3):c.411+4C>Tnot provided [RCV002199455]likely benign1935866843586684Humanname
9687782CV176590single nucleotide variantNM_133261.3(GIPC3):c.788-5C>Tnot specified [RCV000150725]likely benign|uncertain significance1935900343590034Humanname
156417914CV1920703single nucleotide variantNM_133261.3(GIPC3):c.706-9T>Gnot provided [RCV002611083]likely benign1935898223589822Humanname
11093319CV230991single nucleotide variantNM_133261.3(GIPC3):c.411+1G>ARare genetic deafness [RCV000219624]pathogenic1935866813586681Humanname
11088438CV230993single nucleotide variantNM_133261.3(GIPC3):c.706-7C>Tnot provided [RCV004703480]|not specified [RCV000213573]likely benign1935898243589824Humanname
11090211CV230994single nucleotide variantNM_133261.3(GIPC3):c.787+5G>Cnot specified [RCV000215775]likely benign|uncertain significance1935899173589917Humanname
401906836CV2815165single nucleotide variantNM_133261.3(GIPC3):c.*1217G>Anot provided [RCV003421736]likely benign1935914073591407Humanname
401908225CV2815166single nucleotide variantNM_133261.3(GIPC3):c.*1930C>Tnot provided [RCV003423195]benign|likely benign1935921203592120Humanname
401906837CV2815167single nucleotide variantNM_133261.3(GIPC3):c.*2039C>Tnot provided [RCV003421737]likely benign1935922293592229Humanname
401908226CV2815168single nucleotide variantNM_133261.3(GIPC3):c.*2608C>Tnot provided [RCV003423196]likely benign1935927983592798Humanname
401936080CV2815169single nucleotide variantNM_133261.3(GIPC3):c.*2754A>Cnot provided [RCV003413523]likely benign1935929443592944Humanname
405069727CV2875783single nucleotide variantNM_133261.3(GIPC3):c.226-9C>Tnot provided [RCV003548429]likely benign1935864863586486Humanname
405259524CV3186306single nucleotide variantNM_133261.3(GIPC3):c.*1218G>Cnot provided [RCV003884065]uncertain significance1935914083591408Humanname
405283405CV3191361single nucleotide variantNM_133261.3(GIPC3):c.706-8G>TGIPC3-related disorder [RCV003921756]likely benign1935898233589823Humanname , trait , alternate_id
405711360CV3225887single nucleotide variantNM_133261.3(GIPC3):c.592+2T>CAutosomal recessive nonsyndromic hearing loss 15 [RCV003990946]likely pathogenic1935869963586996Human1name
408366892CV3500303single nucleotide variantNM_133261.3(GIPC3):c.226-2A>Gnot provided [RCV004722346]likely pathogenic1935864933586493Humanname
408367522CV3517528single nucleotide variantNM_133261.3(GIPC3):c.411+7G>CGIPC3-related disorder [RCV004758574]|not provided [RCV005104891]likely benign1935866873586687Human1name , trait , alternate_id
596946475CV3548296single nucleotide variantNM_133261.3(GIPC3):c.*2858C>Gnot provided [RCV004810121]likely benign1935930483593048Humanname
598219506CV3895672single nucleotide variantNM_133261.3(GIPC3):c.788-9G>ANonsyndromic genetic hearing loss [RCV005360508]uncertain significance1935900303590030Human1name
13541217CV497312single nucleotide variantNM_133261.3(GIPC3):c.226-7C>Gnot provided [RCV000924890]|not specified [RCV000615849]benign1935864883586488Humanname
13535023CV497512single nucleotide variantNM_133261.3(GIPC3):c.411+6C>Tnot specified [RCV000602082]uncertain significance1935866863586686Humanname
13534504CV506830single nucleotide variantNM_133261.3(GIPC3):c.592+7C>Tnot specified [RCV000607339]likely benign1935870013587001Humanname
13528599CV506833single nucleotide variantNM_133261.3(GIPC3):c.788-4G>Anot provided [RCV001698078]likely benign|conflicting interpretations of pathogenicity1935900353590035Humanname
8609442CV55737single nucleotide variantNM_133261.3(GIPC3):c.593-6C>Tnot provided [RCV002054774]|not specified [RCV000039842]benign1935894373589437Humanname
15201284CV760784single nucleotide variantNM_133261.3(GIPC3):c.787+9C>Tnot provided [RCV000913093]likely benign1935899213589921Humanname
15187973CV778533duplicationNM_133261.3(GIPC3):c.706-3dupAutosomal recessive nonsyndromic hearing loss 15 [RCV002502952]|GIPC3-related disorder [RCV003970757]|not provided [RCV000953746]benign|likely benign1935898233589824Human1name , trait , alternate_id
8636736CV91961single nucleotide variantNM_133261.2(GIPC3):c.*2709G>AMalignant melanoma [RCV000072059]not provided1935928993592899Humanname
150411570CV1178342single nucleotide variantNM_133261.3(GIPC3):c.788-45C>Tnot provided [RCV001547221]likely benign1935899943589994Humanname
150417203CV1181736single nucleotide variantNM_133261.3(GIPC3):c.787+43G>Anot provided [RCV001550016]likely benign1935899553589955Humanname
150408050CV1195387single nucleotide variantNM_133261.3(GIPC3):c.788-43C>Tnot provided [RCV001572515]likely benign1935899963589996Humanname
150449322CV1202426duplicationNM_133261.3(GIPC3):c.411+55dupnot provided [RCV001585023]likely benign1935867273586728Humanname
150480855CV1234247single nucleotide variantNM_133261.3(GIPC3):c.226-22A>GAutosomal recessive nonsyndromic hearing loss 15 [RCV001702136]|not provided [RCV001651566]benign1935864733586473Human1name
150457022CV1248731single nucleotide variantNM_133261.3(GIPC3):c.706-61G>Anot provided [RCV001668907]benign1935897703589770Humanname
150450248CV1273744single nucleotide variantNM_133261.3(GIPC3):c.787+31G>Tnot provided [RCV001691844]benign1935899433589943Humanname
151351721CV1321937single nucleotide variantNM_133261.3(GIPC3):c.226-12T>Cnot provided [RCV001806607]uncertain significance1935864833586483Humanname
152083099CV1608200single nucleotide variantNM_133261.3(GIPC3):c.225+13G>Anot provided [RCV002193280]likely benign1935858353585835Humanname
152048337CV1620055single nucleotide variantNM_133261.3(GIPC3):c.226-11C>Tnot provided [RCV002207192]likely benign1935864843586484Humanname
152980194CV1675876single nucleotide variantNM_133261.3(GIPC3):c.411+25G>Anot provided [RCV002244467]likely benign1935867053586705Humanname
9689514CV176724single nucleotide variantNM_133261.3(GIPC3):c.225+11C>Tnot provided [RCV001569955]|not specified [RCV000155090]benign|likely benign1935858333585833Humanname
11642939CV270904single nucleotide variantNM_133261.3(GIPC3):c.706-12G>Anot provided [RCV001711858]|not specified [RCV000384086]benign1935898193589819Humanname
597888500CV3739268single nucleotide variantNM_133261.3(GIPC3):c.788-10C>Tnot provided [RCV005070815]likely benign1935900293590029Humanname
597956080CV3754533single nucleotide variantNM_133261.3(GIPC3):c.592+20G>Anot provided [RCV005080383]likely benign1935870143587014Humanname
597938718CV3759917single nucleotide variantNM_133261.3(GIPC3):c.592+19C>Gnot provided [RCV005076839]likely benign1935870133587013Humanname
597847925CV3762101single nucleotide variantNM_133261.3(GIPC3):c.592+19C>Tnot provided [RCV005087519]likely benign1935870133587013Humanname
13532980CV507656single nucleotide variantNM_133261.3(GIPC3):c.411+10A>Gnot specified [RCV000601535]likely benign1935866903586690Humanname
14744993CV669896single nucleotide variantNM_133261.3(GIPC3):c.593-28T>Cnot provided [RCV000843094]benign1935894153589415Humanname
15099994CV760778single nucleotide variantNM_133261.3(GIPC3):c.592+10G>TGIPC3-related disorder [RCV003923205]|not provided [RCV000914539]benign|likely benign1935870043587004Human1name , trait , alternate_id
150420167CV1181735single nucleotide variantNM_133261.3(GIPC3):c.593-167C>Tnot provided [RCV001551412]likely benign1935892763589276Humanname
150426473CV1188735single nucleotide variantNM_133261.3(GIPC3):c.593-151G>Anot provided [RCV001559621]likely benign1935892923589292Humanname
150489833CV1208512single nucleotide variantNM_133261.3(GIPC3):c.592+279T>Cnot provided [RCV001592373]likely benign1935872733587273Humanname
150464363CV1214930single nucleotide variantNM_133261.3(GIPC3):c.225+219A>Gnot provided [RCV001613927]benign1935860413586041Humanname
150465912CV1257270single nucleotide variantNM_133261.3(GIPC3):c.593-102G>Anot provided [RCV001670285]benign1935893413589341Humanname
150472756CV1259350single nucleotide variantNM_133261.3(GIPC3):c.225+126C>Tnot provided [RCV001684596]benign1935859483585948Humanname
150442654CV1264470single nucleotide variantNM_133261.3(GIPC3):c.592+255G>Anot provided [RCV001679453]benign1935872493587249Humanname
150457179CV1269173single nucleotide variantNM_133261.3(GIPC3):c.705+116T>Cnot provided [RCV001692997]benign1935896713589671Humanname
150474966CV1217879microsatelliteNM_133261.3(GIPC3):c.592+277TTTG[7]not provided [RCV001615890]benign1935872703587271Humanname
150468483CV1243005microsatelliteNM_133261.3(GIPC3):c.592+277TTTG[8]not provided [RCV001650523]benign1935872703587271Humanname
150457267CV1269467microsatelliteNM_133261.3(GIPC3):c.592+277TTTG[9]not provided [RCV001693007]benign1935872703587271Humanname
152043519CV1618226deletionNM_133261.3(GIPC3):c.226-14_226-12delnot provided [RCV002206655]likely benign1935864793586481Humanname
9691661CV176585single nucleotide variantNM_133261.3(GIPC3):c.69G>A (p.Ala23=)Autosomal recessive nonsyndromic hearing loss 15 [RCV001001881]|not provided [RCV000992080]|not specified [RCV000150718]benign|likely benign1935856663585666Human1name
11091131CV230986single nucleotide variantNM_133261.3(GIPC3):c.69G>C (p.Ala23=)not provided [RCV000840700]|not specified [RCV000216929]likely benign1935856663585666Humanname
11546210CV256886single nucleotide variantNM_133261.3(GIPC3):c.57G>T (p.Ala19=)Autosomal recessive nonsyndromic hearing loss 15 [RCV002500932]|not provided [RCV003422181]|not specified [RCV000246163]likely benign1935856543585654Human1name
405229067CV2977111single nucleotide variantNM_133261.3(GIPC3):c.81C>G (p.Pro27=)not provided [RCV003711203]likely benign1935856783585678Humanname
597864009CV3823087single nucleotide variantNM_133261.3(GIPC3):c.42C>T (p.Thr14=)not provided [RCV005175437]likely benign1935856393585639Humanname
13541314CV497510single nucleotide variantNM_133261.3(GIPC3):c.66C>T (p.Pro22=)not provided [RCV003117423]|not specified [RCV000615996]likely benign1935856633585663Humanname
13530083CV497640single nucleotide variantNM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)GIPC3-related disorder [RCV003953011]|not provided [RCV000734384]|not specified [RCV000600558]likely benign|conflicting interpretations of pathogenicity|uncertain significance1935856013585601Human1name , trait , alternate_id
14704472CV654871single nucleotide variantNM_133261.3(GIPC3):c.75G>T (p.Ser25=)not specified [RCV000825765]likely benign1935856723585672Humanname
150549809CV1299665single nucleotide variantNM_133261.3(GIPC3):c.279G>A (p.Gly93=)not provided [RCV001752591]uncertain significance1935865483586548Humanname
9690243CV176586single nucleotide variantNM_133261.3(GIPC3):c.207C>T (p.Phe69=)GIPC3-related disorder [RCV004757966]|not provided [RCV001711424]|not specified [RCV000155916]benign|likely benign1935858043585804Human1name , trait , alternate_id
156415183CV1961864single nucleotide variantNM_133261.3(GIPC3):c.14C>A (p.Ala5Glu)Inborn genetic diseases [RCV002589020]|not provided [RCV002589021]uncertain significance1935856113585611Human1name
156255869CV1977335single nucleotide variantNM_133261.3(GIPC3):c.174C>T (p.Val58=)not provided [RCV002597621]likely benign|conflicting interpretations of pathogenicity1935857713585771Humanname
156204954CV2092675single nucleotide variantNM_133261.3(GIPC3):c.138G>C (p.Gly46=)not provided [RCV002917927]likely benign1935857353585735Humanname
155962826CV2134562single nucleotide variantNM_133261.3(GIPC3):c.147G>A (p.Thr49=)not provided [RCV002972469]likely benign1935857443585744Humanname
11096477CV230987single nucleotide variantNM_133261.3(GIPC3):c.132G>C (p.Ala44=)not provided [RCV000898600]|not specified [RCV000223629]benign|likely benign1935857293585729Humanname
11090446CV230988single nucleotide variantNM_133261.3(GIPC3):c.192G>A (p.Lys64=)not provided [RCV000509083]|not specified [RCV000216059]likely benign|not provided1935857893585789Humanname
11093850CV230989single nucleotide variantNM_133261.3(GIPC3):c.213C>A (p.Ile71=)not provided [RCV001853409]|not specified [RCV000220299]likely benign|conflicting interpretations of pathogenicity1935858103585810Humanname
405293926CV3203277single nucleotide variantNM_133261.3(GIPC3):c.114C>G (p.Val38=)GIPC3-related disorder [RCV003933838]|not provided [RCV004573431]likely benign1935857113585711Human1name , trait , alternate_id
405693231CV3226704deletionNM_133261.3(GIPC3):c.85del (p.Ala29fs)Autosomal recessive nonsyndromic hearing loss 15 [RCV005407298]|Rare genetic deafness [RCV004018017]|not provided [RCV003993097]pathogenic|likely pathogenic|uncertain significance1935856813585681Human2name
408393922CV3526282deletionNM_133261.3(GIPC3):c.87del (p.Ala30fs)Autosomal recessive nonsyndromic hearing loss 15 [RCV004771714]likely pathogenic1935856833585683Human1name
597840413CV3756082single nucleotide variantNM_133261.3(GIPC3):c.102C>T (p.Arg34=)not provided [RCV005086354]likely benign1935856993585699Humanname
13534913CV497311single nucleotide variantNM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)Inborn genetic diseases [RCV004025018]|not provided [RCV001591372]|not specified [RCV000607477]likely benign|conflicting interpretations of pathogenicity|uncertain significance1935856173585617Human1name
8609441CV55736single nucleotide variantNM_133261.3(GIPC3):c.276G>A (p.Leu92=)not provided [RCV002054773]|not specified [RCV000039841]benign1935865453586545Humanname
151769555CV1424585single nucleotide variantNM_133261.3(GIPC3):c.94C>T (p.Arg32Cys)not provided [RCV001874315]uncertain significance1935856913585691Humanname
151776750CV1440369single nucleotide variantNM_133261.3(GIPC3):c.79C>T (p.Pro27Ser)not provided [RCV001874983]uncertain significance1935856763585676Humanname
152075069CV1544792single nucleotide variantNM_133261.3(GIPC3):c.879C>T (p.Pro293=)not provided [RCV002169802]likely benign1935901303590130Humanname
9690219CV176726single nucleotide variantNM_133261.3(GIPC3):c.576G>A (p.Gln192=)not specified [RCV000155892]likely benign1935869783586978Humanname
156346203CV1868339single nucleotide variantNM_133261.3(GIPC3):c.58C>T (p.Pro20Ser)not provided [RCV003064533]uncertain significance1935856553585655Humanname
156149684CV1929115single nucleotide variantNM_133261.3(GIPC3):c.780C>T (p.Pro260=)not provided [RCV002623960]likely benign1935899053589905Humanname
156436833CV1940417single nucleotide variantNM_133261.3(GIPC3):c.822G>A (p.Ala274=)not provided [RCV003106357]likely benign1935900733590073Humanname
156447286CV1944929single nucleotide variantNM_133261.3(GIPC3):c.98C>T (p.Ala33Val)Inborn genetic diseases [RCV005335733]|not provided [RCV003118813]uncertain significance1935856953585695Human1name
156334123CV1966728single nucleotide variantNM_133261.3(GIPC3):c.843C>T (p.Arg281=)not provided [RCV002600945]likely benign1935900943590094Humanname
156121036CV1982754single nucleotide variantNM_133261.3(GIPC3):c.94C>G (p.Arg32Gly)not provided [RCV002622945]uncertain significance1935856913585691Humanname
156189910CV2016953single nucleotide variantNM_133261.3(GIPC3):c.354A>C (p.Thr118=)not provided [RCV002711052]likely benign1935866233586623Humanname
156199842CV2034665single nucleotide variantNM_133261.3(GIPC3):c.885G>A (p.Glu295=)not provided [RCV002766193]likely benign1935901363590136Humanname
11095758CV230985single nucleotide variantNM_133261.3(GIPC3):c.50C>G (p.Ala17Gly)Inborn genetic diseases [RCV004975333]|not provided [RCV002517551]|not specified [RCV000222730]uncertain significance1935856473585647Human1name
11096200CV230990single nucleotide variantNM_133261.3(GIPC3):c.315C>T (p.His105=)not specified [RCV000223275]likely benign1935865843586584Humanname
11093574CV230992single nucleotide variantNM_133261.3(GIPC3):c.702A>G (p.Glu234=)not provided [RCV003708504]|not specified [RCV000219942]likely benign1935895523589552Humanname
11643029CV265877single nucleotide variantNM_133261.3(GIPC3):c.906C>T (p.Ala302=)not provided [RCV000724934]|not specified [RCV000385111]benign|conflicting interpretations of pathogenicity|uncertain significance1935901573590157Humanname
402489696CV2866574single nucleotide variantNM_133261.3(GIPC3):c.684G>C (p.Gly228=)not provided [RCV003572889]likely benign1935895343589534Humanname
405200230CV2877139single nucleotide variantNM_133261.3(GIPC3):c.882C>T (p.Asp294=)not provided [RCV003551314]likely benign1935901333590133Humanname
405129987CV3133328single nucleotide variantNM_133261.3(GIPC3):c.891G>A (p.Val297=)not provided [RCV003838298]likely benign|conflicting interpretations of pathogenicity1935901423590142Humanname
405058091CV3147834single nucleotide variantNM_133261.3(GIPC3):c.513C>T (p.Tyr171=)not provided [RCV003850064]likely benign1935869153586915Humanname
405261658CV3186222single nucleotide variantNM_133261.3(GIPC3):c.31G>A (p.Gly11Arg)not provided [RCV003885298]uncertain significance1935856283585628Humanname
407503888CV3443224single nucleotide variantNM_133261.3(GIPC3):c.855C>T (p.Ser285=)Inborn genetic diseases [RCV004623891]likely benign1935901063590106Human1name
597679665CV3684528single nucleotide variantNM_133261.3(GIPC3):c.85G>C (p.Ala29Pro)Inborn genetic diseases [RCV004982515]uncertain significance1935856823585682Human1name
597679689CV3684533single nucleotide variantNM_133261.3(GIPC3):c.29G>C (p.Arg10Pro)Inborn genetic diseases [RCV004982520]uncertain significance1935856263585626Human1name
597721523CV3733751duplicationNM_133261.3(GIPC3):c.281dup (p.Gln95fs)Autosomal recessive nonsyndromic hearing loss 15 [RCV005053056]likely pathogenic1935865443586545Human1name
597925834CV3840604single nucleotide variantNM_133261.3(GIPC3):c.651C>T (p.Ser217=)not provided [RCV005185075]likely benign1935895013589501Humanname
616940195CV4014704single nucleotide variantNM_133261.3(GIPC3):c.705G>A (p.Ala235=)not provided [RCV005414198]uncertain significance1935895553589555Humanname
13520198CV490080single nucleotide variantNM_133261.3(GIPC3):c.855C>G (p.Ser285=)not provided [RCV000598454]conflicting interpretations of pathogenicity|uncertain significance1935901063590106Humanname
13534397CV497513single nucleotide variantNM_133261.3(GIPC3):c.915C>T (p.Gly305=)Autosomal recessive nonsyndromic hearing loss 15 [RCV002506445]|not specified [RCV000607318]likely benign1935901663590166Human1name
13533333CV497733single nucleotide variantNM_133261.3(GIPC3):c.381G>A (p.Thr127=)not specified [RCV000601630]likely benign1935866503586650Humanname
13526616CV507265single nucleotide variantNM_133261.3(GIPC3):c.807G>A (p.Thr269=)GIPC3-related disorder [RCV003945485]|not provided [RCV002063255]|not specified [RCV000604364]likely benign1935900583590058Human1name , trait , alternate_id
14704466CV654873single nucleotide variantNM_133261.3(GIPC3):c.319C>A (p.Arg107=)not provided [RCV002538226]|not specified [RCV000825763]likely benign1935865883586588Humanname
14704469CV654875single nucleotide variantNM_133261.3(GIPC3):c.639G>A (p.Ala213=)not provided [RCV001575659]|not specified [RCV000825764]likely benign1935894893589489Humanname
15131852CV741822single nucleotide variantNM_133261.3(GIPC3):c.825C>T (p.Ser275=)not provided [RCV000897850]likely benign1935900763590076Humanname
126910554CV1053386single nucleotide variantNM_133261.3(GIPC3):c.137G>A (p.Gly46Glu)Hearing impairment [RCV001375229]uncertain significance1935857343585734Human2name
151661185CV1175091deletionNM_133261.3(GIPC3):c.3_594del (p.Met1fs)Autosomal recessive nonsyndromic hearing loss 15 [RCV001822879]likely pathogenic1935855983586994Human1name
150545464CV1293814single nucleotide variantNM_133261.3(GIPC3):c.241C>T (p.Leu81Phe)not provided [RCV001762995]uncertain significance1935865103586510Humanname
155267248CV1699506single nucleotide variantNM_133261.3(GIPC3):c.172G>A (p.Val58Ile)Inborn genetic diseases [RCV004047569]|not provided [RCV002283301]uncertain significance1935857693585769Human1name
155644770CV1710385single nucleotide variantNM_133261.3(GIPC3):c.281G>T (p.Gly94Val)not provided [RCV002293681]uncertain significance1935865503586550Humanname
9691662CV176723single nucleotide variantNM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)Autosomal recessive nonsyndromic hearing loss 15 [RCV004700476]|Rare genetic deafness [RCV000150720]|not provided [RCV000413083]pathogenic|likely pathogenic|uncertain significance1935857193585719Human1name
155991407CV2281076single nucleotide variantNM_133261.3(GIPC3):c.176G>T (p.Arg59Leu)Inborn genetic diseases [RCV002882468]uncertain significance1935857733585773Human1name
404977336CV2850167single nucleotide variantNM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)Autosomal recessive nonsyndromic hearing loss 15 [RCV003486089]uncertain significance1935857003585700Human1name
405258497CV3203817deletionNM_133261.3(GIPC3):c.350del (p.Lys117fs)GIPC3-related disorder [RCV003941988]likely pathogenic1935866183586618Humanname , trait , alternate_id
596931234CV3531567single nucleotide variantNM_133261.3(GIPC3):c.101G>A (p.Arg34His)not provided [RCV004781129]uncertain significance1935856983585698Humanname
597679683CV3684532single nucleotide variantNM_133261.3(GIPC3):c.104C>A (p.Pro35Gln)Inborn genetic diseases [RCV004982519]uncertain significance1935857013585701Human1name
8568561CV39712duplicationNM_133261.3(GIPC3):c.685dup (p.Ala229fs)Autosomal recessive nonsyndromic hearing loss 15 [RCV000023734]pathogenic1935895283589529Human1name
8568563CV39714single nucleotide variantNM_133261.3(GIPC3):c.136G>A (p.Gly46Arg)Autosomal recessive nonsyndromic hearing loss 15 [RCV000023736]pathogenic1935857333585733Human1name
598220576CV3977675single nucleotide variantNM_133261.3(GIPC3):c.156C>G (p.Ile52Met)Inborn genetic diseases [RCV005340472]uncertain significance1935857533585753Human1name
617154380CV4022606single nucleotide variantNM_133261.3(GIPC3):c.277G>A (p.Gly93Arg)not provided [RCV005429963]uncertain significance1935865463586546Humanname
13536739CV497511single nucleotide variantNM_133261.3(GIPC3):c.245A>G (p.Asn82Ser)Autosomal recessive nonsyndromic hearing loss 15 [RCV004796250]|not specified [RCV000609428]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1935865143586514Human1name
14704891CV654872single nucleotide variantNM_133261.3(GIPC3):c.271C>T (p.Leu91Phe)not specified [RCV000825931]uncertain significance1935865403586540Humanname
126736420CV1015454single nucleotide variantNM_133261.3(GIPC3):c.320G>C (p.Arg107Pro)Autosomal recessive nonsyndromic hearing loss 15 [RCV001328535]uncertain significance1935865893586589Human1name
126743729CV1018545single nucleotide variantNM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr)Autosomal recessive nonsyndromic hearing loss 15 [RCV001330271]uncertain significance1935869943586994Human1name
126910849CV1053387single nucleotide variantNM_133261.3(GIPC3):c.319C>G (p.Arg107Gly)Hearing impairment [RCV001375448]uncertain significance1935865883586588Human2name
126910844CV1053388single nucleotide variantNM_133261.3(GIPC3):c.880G>A (p.Asp294Asn)Hearing impairment [RCV001375442]uncertain significance1935901313590131Human2name
150410685CV1192128single nucleotide variantNM_133261.3(GIPC3):c.842G>A (p.Arg281His)not provided [RCV001566183]uncertain significance1935900933590093Humanname
150547569CV1292082single nucleotide variantNM_133261.3(GIPC3):c.680G>A (p.Gly227Glu)Autosomal recessive nonsyndromic hearing loss 15 [RCV001733748]|not provided [RCV004692719]uncertain significance1935895303589530Human1name
150554340CV1295765single nucleotide variantNM_133261.3(GIPC3):c.494T>C (p.Ile165Thr)not provided [RCV001770995]uncertain significance1935868963586896Humanname
150551870CV1296281single nucleotide variantNM_133261.3(GIPC3):c.764T>G (p.Met255Arg)not provided [RCV001767291]uncertain significance1935898893589889Humanname
150551350CV1297319single nucleotide variantNM_133261.3(GIPC3):c.592G>A (p.Asp198Asn)not provided [RCV001767001]uncertain significance1935869943586994Humanname
150554752CV1304485single nucleotide variantNM_133261.3(GIPC3):c.679G>T (p.Gly227Trp)not provided [RCV001771455]likely benign|conflicting interpretations of pathogenicity|uncertain significance1935895293589529Humanname
151351306CV1321779single nucleotide variantNM_133261.3(GIPC3):c.913G>A (p.Gly305Ser)not provided [RCV001806272]uncertain significance1935901643590164Humanname
151864040CV1336766single nucleotide variantNM_133261.3(GIPC3):c.613C>T (p.Arg205Trp)not provided [RCV002034811]uncertain significance1935894633589463Humanname
151893224CV1337968single nucleotide variantNM_133261.3(GIPC3):c.701A>C (p.Glu234Ala)Inborn genetic diseases [RCV004040370]|not provided [RCV001944858]uncertain significance1935895513589551Human1name
151667739CV1385029single nucleotide variantNM_133261.3(GIPC3):c.739G>A (p.Val247Ile)not provided [RCV001982660]uncertain significance1935898643589864Humanname
151792887CV1420387single nucleotide variantNM_133261.3(GIPC3):c.920C>T (p.Ala307Val)not provided [RCV002027388]uncertain significance1935901713590171Humanname
151782384CV1422271single nucleotide variantNM_133261.3(GIPC3):c.908C>T (p.Ala303Val)not provided [RCV001972199]uncertain significance1935901593590159Humanname
153000151CV1683625single nucleotide variantNM_133261.3(GIPC3):c.772C>T (p.Arg258Trp)not provided [RCV002254080]uncertain significance1935898973589897Humanname
153001256CV1684088single nucleotide variantNM_133261.3(GIPC3):c.667C>T (p.Arg223Trp)not provided [RCV002255015]uncertain significance1935895173589517Humanname
153347176CV1691965single nucleotide variantNM_133261.3(GIPC3):c.723G>C (p.Glu241Asp)not provided [RCV002273450]uncertain significance1935898483589848Humanname
9687780CV176588single nucleotide variantNM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)Inborn genetic diseases [RCV002516026]|not provided [RCV001850049]|not specified [RCV000150722]likely benign|uncertain significance1935868423586842Human1name
9687781CV176589single nucleotide variantNM_133261.3(GIPC3):c.626G>A (p.Cys209Tyr)not specified [RCV000150724]likely benign1935894763589476Humanname
9691665CV176591single nucleotide variantNM_133261.3(GIPC3):c.875T>C (p.Phe292Ser)not specified [RCV000150727]uncertain significance1935901263590126Humanname
9691663CV176725single nucleotide variantNM_133261.3(GIPC3):c.298G>A (p.Asp100Asn)Inborn genetic diseases [RCV003162612]|not specified [RCV000150721]uncertain significance1935865673586567Human1name
9691664CV176727single nucleotide variantNM_133261.3(GIPC3):c.674G>A (p.Arg225His)not specified [RCV000150723]uncertain significance1935895243589524Humanname
9687783CV176728single nucleotide variantNM_133261.3(GIPC3):c.856G>A (p.Val286Ile)GIPC3-related disorder [RCV003917470]|not provided [RCV000724549]|not specified [RCV000150726]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1935901073590107Human1name , trait , alternate_id
156364029CV1932000single nucleotide variantNM_133261.3(GIPC3):c.731C>A (p.Ser244Tyr)not provided [RCV002632879]uncertain significance1935898563589856Humanname
156373781CV2052769single nucleotide variantNM_133261.3(GIPC3):c.827C>T (p.Ala276Val)not provided [RCV002814516]uncertain significance1935900783590078Humanname
156243352CV2053213single nucleotide variantNM_133261.3(GIPC3):c.854C>T (p.Ser285Phe)not provided [RCV002791432]uncertain significance1935901053590105Humanname
156139922CV2116627single nucleotide variantNM_133261.3(GIPC3):c.566G>A (p.Arg189His)not provided [RCV002914868]uncertain significance1935869683586968Humanname
156386156CV2125536single nucleotide variantNM_133261.3(GIPC3):c.781G>A (p.Glu261Lys)not provided [RCV002943501]uncertain significance1935899063589906Humanname
156272592CV2308828single nucleotide variantNM_133261.3(GIPC3):c.373A>G (p.Thr125Ala)Inborn genetic diseases [RCV002934434]uncertain significance1935866423586642Human1name
11091930CV230995single nucleotide variantNM_133261.3(GIPC3):c.871G>A (p.Ala291Thr)Autosomal recessive nonsyndromic hearing loss 15 [RCV005400435]|GIPC3-related disorder [RCV003947699]|not provided [RCV001551276]|not specified [RCV000217913]likely benign|uncertain significance1935901223590122Human1name , trait , alternate_id
155991268CV2355377single nucleotide variantNM_133261.3(GIPC3):c.916G>A (p.Glu306Lys)Inborn genetic diseases [RCV002974710]|not provided [RCV003154280]uncertain significance1935901673590167Human1name
243051906CV2404211single nucleotide variantNM_133261.3(GIPC3):c.712G>C (p.Glu238Gln)not provided [RCV003129237]uncertain significance1935898373589837Humanname
329353907CV2439816single nucleotide variantNM_133261.3(GIPC3):c.914G>A (p.Gly305Asp)Inborn genetic diseases [RCV003201633]uncertain significance1935901653590165Human1name
11526027CV247163single nucleotide variantNM_133261.3(GIPC3):c.773G>A (p.Arg258Gln)not specified [RCV000239226]uncertain significance1935898983589898Humanname
329846665CV2534132single nucleotide variantNM_133261.3(GIPC3):c.899T>C (p.Val300Ala)not provided [RCV003228339]uncertain significance1935901503590150Humanname
329848237CV2667856single nucleotide variantNM_133261.3(GIPC3):c.821C>G (p.Ala274Gly)not provided [RCV003229423]uncertain significance1935900723590072Humanname
401765871CV2683453single nucleotide variantNM_133261.3(GIPC3):c.907G>A (p.Ala303Thr)Inborn genetic diseases [RCV003259293]uncertain significance1935901583590158Human1name
11640855CV270334single nucleotide variantNM_133261.3(GIPC3):c.371T>C (p.Leu124Pro)not provided [RCV000345199]uncertain significance1935866403586640Humanname
11640107CV270995single nucleotide variantNM_133261.3(GIPC3):c.614G>A (p.Arg205Gln)not provided [RCV000331441]uncertain significance1935894643589464Humanname
401770899CV2726295single nucleotide variantNM_133261.3(GIPC3):c.533G>A (p.Arg178Gln)Inborn genetic diseases [RCV003304180]uncertain significance1935869353586935Human1name
405699150CV3227076single nucleotide variantNM_133261.3(GIPC3):c.569T>C (p.Leu190Pro)not provided [RCV003993470]uncertain significance1935869713586971Humanname
405736813CV3254904single nucleotide variantNM_133261.3(GIPC3):c.313C>T (p.His105Tyr)Autosomal recessive nonsyndromic hearing loss 15 [RCV005052891]|Inborn genetic diseases [RCV004390722]likely pathogenic|uncertain significance1935865823586582Human2name
407457451CV3416163single nucleotide variantNM_133261.3(GIPC3):c.721G>C (p.Glu241Gln)not provided [RCV004599041]uncertain significance1935898463589846Humanname
407574619CV3499630single nucleotide variantNM_133261.3(GIPC3):c.763A>C (p.Met255Leu)not provided [RCV004720123]uncertain significance1935898883589888Humanname
408388236CV3527427single nucleotide variantNM_133261.3(GIPC3):c.335A>G (p.Glu112Gly)not provided [RCV004773730]uncertain significance1935866043586604Humanname
596929799CV3531161single nucleotide variantNM_133261.3(GIPC3):c.325G>A (p.Glu109Lys)not provided [RCV004779735]uncertain significance1935865943586594Humanname
596922382CV3537181single nucleotide variantNM_133261.3(GIPC3):c.410A>G (p.Lys137Arg)not provided [RCV004786177]uncertain significance1935866793586679Humanname
597679656CV3684526single nucleotide variantNM_133261.3(GIPC3):c.764T>C (p.Met255Thr)Inborn genetic diseases [RCV004982513]uncertain significance1935898893589889Human1name
597679659CV3684527single nucleotide variantNM_133261.3(GIPC3):c.591C>A (p.Phe197Leu)Inborn genetic diseases [RCV004982514]uncertain significance1935869933586993Human1name
597679668CV3684529single nucleotide variantNM_133261.3(GIPC3):c.679G>C (p.Gly227Arg)Inborn genetic diseases [RCV004982516]uncertain significance1935895293589529Human1name
597679674CV3684530single nucleotide variantNM_133261.3(GIPC3):c.388G>A (p.Gly130Arg)Inborn genetic diseases [RCV004982517]uncertain significance1935866573586657Human1name
597679679CV3684531single nucleotide variantNM_133261.3(GIPC3):c.451G>C (p.Val151Leu)Inborn genetic diseases [RCV004982518]uncertain significance1935868533586853Human1name
597721528CV3733752single nucleotide variantNM_133261.3(GIPC3):c.331A>T (p.Lys111Ter)Autosomal recessive nonsyndromic hearing loss 15 [RCV005053057]likely pathogenic1935866003586600Human1name
597721534CV3733754single nucleotide variantNM_133261.3(GIPC3):c.766G>A (p.Gly256Ser)Autosomal recessive nonsyndromic hearing loss 15 [RCV005053059]likely pathogenic1935898913589891Human1name
597721536CV3733755single nucleotide variantNM_133261.3(GIPC3):c.788C>A (p.Ala263Glu)Autosomal recessive nonsyndromic hearing loss 15 [RCV005053060]likely pathogenic1935900393590039Human1name
8568559CV39710single nucleotide variantNM_133261.3(GIPC3):c.785T>G (p.Leu262Arg)Autosomal recessive nonsyndromic hearing loss 15 [RCV000023732]pathogenic1935899103589910Human1name
8568560CV39711single nucleotide variantNM_133261.3(GIPC3):c.903G>A (p.Trp301Ter)Autosomal recessive nonsyndromic hearing loss 15 [RCV000023733]pathogenic1935901543590154Human1name
8568562CV39713single nucleotide variantNM_133261.3(GIPC3):c.767G>A (p.Gly256Asp)Autosomal recessive nonsyndromic hearing loss 15 [RCV000023735]pathogenic1935898923589892Human1name
8568564CV39715single nucleotide variantNM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)Autosomal recessive nonsyndromic hearing loss 15 [RCV000023737]pathogenic1935869673586967Human1name
598251664CV3977673single nucleotide variantNM_133261.3(GIPC3):c.874T>C (p.Phe292Leu)Inborn genetic diseases [RCV005345939]uncertain significance1935901253590125Human1name
598220570CV3977674single nucleotide variantNM_133261.3(GIPC3):c.305T>A (p.Ile102Asn)Inborn genetic diseases [RCV005340471]uncertain significance1935865743586574Human1name
617149379CV4017512single nucleotide variantNM_133261.3(GIPC3):c.546G>T (p.Lys182Asn)not provided [RCV005417170]uncertain significance1935869483586948Humanname
13212386CV426300single nucleotide variantNM_133261.3(GIPC3):c.733C>G (p.Arg245Gly)not provided [RCV000498749]uncertain significance1935898583589858Humanname
13523781CV491209single nucleotide variantNM_133261.3(GIPC3):c.425G>A (p.Gly142Asp)not provided [RCV000593434]uncertain significance1935868273586827Humanname
13520161CV493529single nucleotide variantNM_133261.3(GIPC3):c.673C>T (p.Arg225Cys)not provided [RCV000598424]uncertain significance1935895233589523Humanname
13536924CV497313single nucleotide variantNM_133261.3(GIPC3):c.545A>C (p.Lys182Thr)Autosomal recessive nonsyndromic hearing loss 15 [RCV000765440]|Inborn genetic diseases [RCV002528793]|not specified [RCV000609677]uncertain significance1935869473586947Human2name
13529663CV497314single nucleotide variantNM_133261.3(GIPC3):c.939G>C (p.Ter313Tyr)not specified [RCV000605823]uncertain significance1935901903590190Humanname
13541582CV497641single nucleotide variantNM_133261.3(GIPC3):c.821C>T (p.Ala274Val)not provided [RCV001562560]|not specified [RCV000616362]likely benign|conflicting interpretations of pathogenicity1935900723590072Humanname
13539018CV497734single nucleotide variantNM_133261.3(GIPC3):c.883G>A (p.Glu295Lys)not specified [RCV000612691]uncertain significance1935901343590134Humanname
14393422CV609025single nucleotide variantNM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)Autosomal recessive nonsyndromic hearing loss 15 [RCV000754790]|Hearing impairment [RCV001375224]likely pathogenic|uncertain significance1935901883590188Human3name
14396277CV612033single nucleotide variantNM_133261.3(GIPC3):c.400G>A (p.Ala134Thr)Sensorineural hearing loss disorder [RCV000761190]likely pathogenic1935866693586669Human2name
14689808CV615828single nucleotide variantNM_133261.3(GIPC3):c.724G>T (p.Glu242Ter)Autosomal recessive nonsyndromic hearing loss 15 [RCV000770822]pathogenic1935898493589849Human1name
14704888CV654874single nucleotide variantNM_133261.3(GIPC3):c.596T>C (p.Met199Thr)not specified [RCV000825930]uncertain significance1935894463589446Humanname
21066482CV793778single nucleotide variantNM_133261.3(GIPC3):c.826G>A (p.Ala276Thr)Inborn genetic diseases [RCV005338492]|not provided [RCV000992081]uncertain significance1935900773590077Human1name
28888584CV860551single nucleotide variantNM_133261.3(GIPC3):c.662C>T (p.Thr221Ile)Hearing loss, autosomal recessive [RCV001291327]|not provided [RCV001092100]pathogenic|likely pathogenic1935895123589512Human2name
151883263CV1432029deletionNM_133261.3(GIPC3):c.121_122del (p.Thr41fs)not provided [RCV002000016]pathogenic1935857173585718Humanname
597721532CV3733753deletionNM_133261.3(GIPC3):c.466_476del (p.Ser156fs)Autosomal recessive nonsyndromic hearing loss 15 [RCV005053058]likely pathogenic1935868673586877Human1name
597931229CV3827073duplicationNM_133261.3(GIPC3):c.517_537dup (p.Glu179_Leu180insValAlaLysMetLeuArgGlu)not provided [RCV005157086]uncertain significance1935869153586916Humanname