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


1004 records found for search term Triobp
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8556266CV16536insertionTRIOBP, 1-BP INS, 3225CDeafness, autosomal recessive 28 [RCV000001562]pathogenicHumanname
11090554CV231186single nucleotide variantNM_001039141.3(TRIOBP):c.-3A>GTRIOBP-related disorder [RCV003955278]|not specified [RCV000216202]likely benign|uncertain significance223770136337701363Human1name , alternate_id
8606670CV53017single nucleotide variantNM_001039141.3(TRIOBP):c.-14C>GAutosomal recessive nonsyndromic hearing loss 28 [RCV001838534]|not provided [RCV004713181]|not specified [RCV000036815]benign223770135237701352Human1name
150547030CV1291844single nucleotide variantNM_001039141.3(TRIOBP):c.*3-4T>CAutosomal recessive nonsyndromic hearing loss 28 [RCV001733527]benign223777377937773779Human1name
151732507CV1378433single nucleotide variantNM_001039141.3(TRIOBP):c.629-1G>CRare genetic deafness [RCV004017874]|not provided [RCV002041352]likely pathogenic223772318437723184Humanname
153303690CV1690421single nucleotide variantNM_001039141.3(TRIOBP):c.254+4G>Anot provided [RCV002269465]uncertain significance223771057037710570Humanname
9692322CV176431single nucleotide variantNM_001039141.3(TRIOBP):c.*2+10G>Anot specified [RCV000152156]likely benign223777277437772774Humanname
596931345CV3531681single nucleotide variantNM_001039141.3(TRIOBP):c.628+2T>Cnot provided [RCV004781243]likely pathogenic223771593637715936Humanname
597653958CV3731373single nucleotide variantNM_001039141.3(TRIOBP):c.-60-2A>Cnot provided [RCV005001553]uncertain significance223770130437701304Humanname
597874278CV3766116single nucleotide variantNM_001039141.3(TRIOBP):c.255-4C>Tnot provided [RCV005108248]likely benign223771320637713206Humanname
597845594CV3880464single nucleotide variantNM_001039141.3(TRIOBP):c.115-3C>Tnot provided [RCV005227352]uncertain significance223771042437710424Humanname
127244445CV1056685single nucleotide variantNM_001039141.3(TRIOBP):c.6849+1G>Tnot provided [RCV001377256]likely pathogenic223776937637769376Humanname
150333215CV1169916single nucleotide variantNM_001039141.3(TRIOBP):c.6214-5C>Tnot provided [RCV001537215]likely benign223775914937759149Humanname
150422768CV1181994single nucleotide variantNM_001039141.3(TRIOBP):c.*2+168A>Gnot provided [RCV001553089]likely benign223777293237772932Humanname
150427009CV1188998single nucleotide variantNM_001039141.3(TRIOBP):c.*2+127G>Anot provided [RCV001560343]likely benign223777289137772891Humanname
150410429CV1192380single nucleotide variantNM_001039141.3(TRIOBP):c.628+94A>Gnot provided [RCV001566047]likely benign223771602837716028Humanname
150475324CV1202227single nucleotide variantNM_001039141.3(TRIOBP):c.115-74G>Anot provided [RCV001589470]likely benign223771035337710353Humanname
150451443CV1205395single nucleotide variantNM_001039141.3(TRIOBP):c.115-35C>Tnot provided [RCV001585295]likely benign223771039237710392Humanname
150467366CV1207084single nucleotide variantNM_001039141.3(TRIOBP):c.6850-6C>Tnot provided [RCV001587876]likely benign223777164437771644Humanname
150490623CV1210230single nucleotide variantNM_001039141.3(TRIOBP):c.629-26C>Tnot provided [RCV001592512]likely benign223772315937723159Humanname
150491641CV1210398single nucleotide variantNM_001039141.3(TRIOBP):c.115-55G>Tnot provided [RCV001592680]likely benign223771037237710372Humanname
150501298CV1213324single nucleotide variantNM_001039141.3(TRIOBP):c.*2+249A>Gnot provided [RCV001594736]benign223777301337773013Humanname
150508195CV1213979single nucleotide variantNM_001039141.3(TRIOBP):c.114+16A>Gnot provided [RCV001596500]benign|likely benign223770149537701495Humanname
150536599CV1296934single nucleotide variantNM_001039141.3(TRIOBP):c.5578-9G>Anot provided [RCV001763225]uncertain significance223775554137755541Humanname
151751076CV1335622duplicationNM_001039141.3(TRIOBP):c.628+94dupnot provided [RCV001847464]likely benign223771602737716028Humanname
151790450CV1397255single nucleotide variantNM_001039141.3(TRIOBP):c.5488-6C>Anot provided [RCV001951996]likely benign|uncertain significance223775509537755095Humanname
151725229CV1455634single nucleotide variantNM_001039141.3(TRIOBP):c.5184+1G>AAutosomal recessive nonsyndromic hearing loss 28 [RCV003989749]|not provided [RCV002020694]pathogenic|likely pathogenic223773872037738720Human1name
151843815CV1499911single nucleotide variantNM_001039141.3(TRIOBP):c.5379+6A>Cnot provided [RCV001921857]uncertain significance223775183437751834Humanname
152170990CV1562040single nucleotide variantNM_001039141.3(TRIOBP):c.255-11T>Cnot provided [RCV002161952]likely benign223771319937713199Humanname
9692312CV176301single nucleotide variantNM_001039141.3(TRIOBP):c.6324+9G>Anot provided [RCV005089740]|not specified [RCV000152144]likely benign223775927337759273Humanname
156408867CV1922085single nucleotide variantNM_001039141.3(TRIOBP):c.3947+8C>Gnot provided [RCV002607377]likely benign223772651137726511Humanname
156442668CV1948771single nucleotide variantNM_001039141.3(TRIOBP):c.3947+8C>Tnot provided [RCV003113016]likely benign223772651137726511Humanname
156170747CV1956255single nucleotide variantNM_001039141.3(TRIOBP):c.628+18G>Tnot provided [RCV002573803]likely benign223771595237715952Humanname
156122325CV1959588single nucleotide variantNM_001039141.3(TRIOBP):c.6324+8C>Tnot provided [RCV002571913]likely benign223775927237759272Humanname
155912935CV2148603single nucleotide variantNM_001039141.3(TRIOBP):c.6850-6C>Anot provided [RCV002991452]likely benign223777164437771644Humanname
11094008CV231193single nucleotide variantNM_001039141.3(TRIOBP):c.4062+5G>Anot specified [RCV000220498]uncertain significance223773341737733417Humanname
401867310CV2748869single nucleotide variantNM_001039141.3(TRIOBP):c.6325-9G>Cnot specified [RCV003331691]likely benign223776566137765661Humanname
401936259CV2803025single nucleotide variantNM_001039141.3(TRIOBP):c.5185-2A>GTRIOBP-related disorder [RCV003414262]likely pathogenic223774089337740893Humanname , trait , alternate_id
402500874CV3035376single nucleotide variantNM_001039141.3(TRIOBP):c.255-10C>Tnot provided [RCV003714723]likely benign223771320037713200Humanname
405171323CV3122554single nucleotide variantNM_001039141.3(TRIOBP):c.6324+9G>Cnot provided [RCV003819143]likely benign223775927337759273Humanname
405244260CV3161171single nucleotide variantNM_001039141.3(TRIOBP):c.457-12C>Tnot provided [RCV003868080]likely benign223771575137715751Humanname
408380133CV3510102single nucleotide variantNM_001039141.3(TRIOBP):c.5577+6G>TTRIOBP-related disorder [RCV004753915]likely benign223775519637755196Humanname , trait , alternate_id
12849009CV363761single nucleotide variantNM_001039141.3(TRIOBP):c.4062+2T>Cnot provided [RCV000422575]likely pathogenic223773341437733414Humanname
597848532CV3746486single nucleotide variantNM_001039141.3(TRIOBP):c.457-13C>Gnot provided [RCV005060305]likely benign223771575037715750Humanname
597964815CV3751018single nucleotide variantNM_001039141.3(TRIOBP):c.5578-8C>Tnot provided [RCV005082580]likely benign223775554237755542Humanname
597938065CV3852741single nucleotide variantNM_001039141.3(TRIOBP):c.456+11A>Gnot provided [RCV005187140]likely benign223771342237713422Humanname
598125336CV3883941single nucleotide variantNM_001039141.3(TRIOBP):c.5578-3C>Tnot provided [RCV005236296]uncertain significance223775554737755547Humanname
598177072CV3891072single nucleotide variantNM_001039141.3(TRIOBP):c.629-10C>Gnot provided [RCV005251925]uncertain significance223772317537723175Humanname
12893861CV411011single nucleotide variantNM_001039141.3(TRIOBP):c.5488-2A>Gnot provided [RCV000480502]likely pathogenic223775509937755099Humanname
13540919CV497349single nucleotide variantNM_001039141.3(TRIOBP):c.115-12A>Tnot specified [RCV000615389]uncertain significance223771041537710415Humanname
8606682CV53029single nucleotide variantNM_001039141.3(TRIOBP):c.5487+9A>Gnot provided [RCV000713876]|not specified [RCV000036827]benign223775499337754993Humanname
8606683CV53030deletionNM_001039141.3(TRIOBP):c.5488-7delnot provided [RCV001719735]|not specified [RCV000036828]benign223775509437755094Humanname
150338873CV1167786single nucleotide variantNM_001039141.3(TRIOBP):c.4063-31A>Cnot provided [RCV001533818]benign223773436837734368Humanname
150340088CV1168477single nucleotide variantNM_001039141.3(TRIOBP):c.114+252T>Anot provided [RCV001534959]benign223770173137701731Humanname
150334778CV1173491single nucleotide variantNM_001039141.3(TRIOBP):c.114+256T>Gnot provided [RCV001540234]likely benign223770173537701735Humanname
150426799CV1188993single nucleotide variantNM_001039141.3(TRIOBP):c.115-148C>Tnot provided [RCV001560037]likely benign223771027937710279Humanname
150415233CV1192381single nucleotide variantNM_001039141.3(TRIOBP):c.629-281T>Anot provided [RCV001567893]likely benign223772290437722904Humanname
150408887CV1192385single nucleotide variantNM_001039141.3(TRIOBP):c.5184+82A>Gnot provided [RCV001565481]likely benign223773880137738801Humanname
150411886CV1192388single nucleotide variantNM_001039141.3(TRIOBP):c.5380-13A>Gnot provided [RCV001566751]likely benign223775486437754864Humanname
150422184CV1195642single nucleotide variantNM_001039141.3(TRIOBP):c.5185-95G>Anot provided [RCV001570899]likely benign223774080037740800Humanname
150414267CV1199353single nucleotide variantNM_001039141.3(TRIOBP):c.-60-129G>Cnot provided [RCV001574882]likely benign223770117737701177Humanname
150420049CV1199358single nucleotide variantNM_001039141.3(TRIOBP):c.6324+90C>Tnot provided [RCV001577443]likely benign223775935437759354Humanname
150465582CV1201100single nucleotide variantNM_001039141.3(TRIOBP):c.6937-41G>Anot provided [RCV001587580]likely benign223777256037772560Humanname
150476231CV1203008deletionNM_001039141.3(TRIOBP):c.255-242delnot provided [RCV001589602]likely benign223771296637712966Humanname
150441836CV1204615single nucleotide variantNM_001039141.3(TRIOBP):c.457-271G>Anot provided [RCV001583722]likely benign223771549237715492Humanname
150495238CV1204968single nucleotide variantNM_001039141.3(TRIOBP):c.6213+44G>Anot provided [RCV001593460]likely benign223775818237758182Humanname
150461285CV1205885single nucleotide variantNM_001039141.3(TRIOBP):c.115-177C>Tnot provided [RCV001586842]likely benign223771025037710250Humanname
150461644CV1206485single nucleotide variantNM_001039141.3(TRIOBP):c.6575+76C>Tnot provided [RCV001586886]likely benign223776825237768252Humanname
150461884CV1206514single nucleotide variantNM_001039141.3(TRIOBP):c.254+120G>Tnot provided [RCV001586915]likely benign223771068637710686Humanname
150479333CV1207819single nucleotide variantNM_001039141.3(TRIOBP):c.5322+48G>Anot provided [RCV001590095]likely benign223774108037741080Humanname
150511358CV1212721single nucleotide variantNM_001039141.3(TRIOBP):c.6324+46C>GAutosomal recessive nonsyndromic hearing loss 28 [RCV001838688]|not provided [RCV001597952]benign223775931037759310Human1name
150434267CV1215847single nucleotide variantNM_001039141.3(TRIOBP):c.4063-21A>CAutosomal recessive nonsyndromic hearing loss 28 [RCV001838701]|not provided [RCV001609035]benign223773437837734378Human5name
150434267CV1215847single nucleotide variantNM_001039141.3(TRIOBP):c.4063-21A>CAutosomal recessive nonsyndromic hearing loss 28 [RCV001838701]|not provided [RCV001609035]benign223773437837734379Human5name
150515004CV1217347single nucleotide variantNM_001039141.3(TRIOBP):c.255-102G>Tnot provided [RCV001608251]benign223771310837713108Humanname
150435148CV1233787single nucleotide variantNM_001039141.3(TRIOBP):c.115-326C>Tnot provided [RCV001643914]benign223771010137710101Humanname
150460919CV1234710single nucleotide variantNM_001039141.3(TRIOBP):c.5578-41G>Anot provided [RCV001649292]benign223775550937755509Humanname
150497654CV1236396duplicationNM_001039141.3(TRIOBP):c.254+173dupnot provided [RCV001656121]benign223771073637710737Humanname
150485901CV1250323single nucleotide variantNM_001039141.3(TRIOBP):c.115-209T>Gnot provided [RCV001673936]benign223771021837710218Humanname
150472180CV1252202single nucleotide variantNM_001039141.3(TRIOBP):c.115-175A>Tnot provided [RCV001671403]benign223771025237710252Humanname
150467628CV1269263single nucleotide variantNM_001039141.3(TRIOBP):c.255-112C>Tnot provided [RCV001694671]benign223771309837713098Humanname
150447235CV1270282single nucleotide variantNM_001039141.3(TRIOBP):c.628+284T>Cnot provided [RCV001691417]benign223771621837716218Humanname
150448157CV1270421deletionNM_001039141.3(TRIOBP):c.6735+32delnot provided [RCV001691558]benign223776921737769217Humanname
150495467CV1272639single nucleotide variantNM_001039141.3(TRIOBP):c.5380-48A>Gnot provided [RCV001688562]benign223775482937754829Humanname
150497262CV1283524single nucleotide variantNM_001039141.3(TRIOBP):c.6849+67G>Anot provided [RCV001717823]benign223776944237769442Human3name
150497262CV1283524single nucleotide variantNM_001039141.3(TRIOBP):c.6849+67G>Anot provided [RCV001717823]benign223776944237769443Human3name
151871436CV1436904single nucleotide variantNM_001039141.3(TRIOBP):c.6325-16G>Anot provided [RCV002035719]likely benign|uncertain significance223776565437765654Humanname
152112630CV1539320single nucleotide variantNM_001039141.3(TRIOBP):c.4063-17C>Anot provided [RCV002080459]likely benign223773438237734382Humanname
152088271CV1541292single nucleotide variantNM_001039141.3(TRIOBP):c.5688-13G>CAutosomal recessive nonsyndromic hearing loss 28 [RCV002505845]|not provided [RCV002171491]likely benign223775760037757600Human1name
152150645CV1559517single nucleotide variantNM_001039141.3(TRIOBP):c.6472+18G>Tnot provided [RCV002220759]likely benign223776583537765835Humanname
152125038CV1565480single nucleotide variantNM_001039141.3(TRIOBP):c.5380-19C>Gnot provided [RCV002136206]likely benign223775485837754858Humanname
152136655CV1595186single nucleotide variantNM_001039141.3(TRIOBP):c.6472+12G>Tnot provided [RCV002200036]likely benign223776582937765829Humanname
152152615CV1631120single nucleotide variantNM_001039141.3(TRIOBP):c.6472+14G>Cnot provided [RCV002139750]likely benign223776583137765831Humanname
152144723CV1651720single nucleotide variantNM_001039141.3(TRIOBP):c.4062+19C>Tnot provided [RCV002138643]benign223773343137733431Humanname
9692314CV176303single nucleotide variantNM_001039141.3(TRIOBP):c.6325-10C>Tnot provided [RCV001731399]|not specified [RCV000152147]likely benign223776566037765660Humanname
9692320CV176307single nucleotide variantNM_001039141.3(TRIOBP):c.6936+13G>Tnot provided [RCV002056011]|not specified [RCV000152154]benign|likely benign223777174937771749Humanname
9692317CV176427single nucleotide variantNM_001039141.3(TRIOBP):c.6472+10C>Tnot provided [RCV000973626]|not specified [RCV000152150]benign|likely benign|conflicting interpretations of pathogenicity223776582737765827Humanname
156184360CV1964465single nucleotide variantNM_001039141.3(TRIOBP):c.6736-16A>Gnot provided [RCV002574212]likely benign223776924637769246Humanname
156002930CV1987946duplicationNM_001039141.3(TRIOBP):c.6472+11dupnot provided [RCV002618536]likely benign223776582737765828Humanname
156403659CV1989588single nucleotide variantNM_001039141.3(TRIOBP):c.6214-18C>Tnot provided [RCV002657888]likely benign223775913637759136Humanname
156402071CV1992306single nucleotide variantNM_001039141.3(TRIOBP):c.6850-13C>Tnot provided [RCV002605702]likely benign223777163737771637Humanname
156197204CV2005783single nucleotide variantNM_001039141.3(TRIOBP):c.6472+15G>Anot provided [RCV002643506]likely benign223776583237765832Humanname
156310922CV2063402single nucleotide variantNM_001039141.3(TRIOBP):c.6324+16T>Gnot provided [RCV002834115]likely benign223775928037759280Humanname
156240545CV2085954single nucleotide variantNM_001039141.3(TRIOBP):c.5379+20A>Cnot provided [RCV002876580]likely benign223775184837751848Humanname
156050406CV2169079single nucleotide variantNM_001039141.3(TRIOBP):c.6736-13G>Anot provided [RCV003019375]likely benign223776924937769249Humanname
11092280CV231205single nucleotide variantNM_001039141.3(TRIOBP):c.5488-14C>Tnot specified [RCV000218344]likely benign223775508737755087Humanname
11095374CV231220single nucleotide variantNM_001039141.3(TRIOBP):c.6575+14G>Anot provided [RCV002517513]|not specified [RCV000222232]benign|likely benign223776819037768190Humanname
11545315CV257681single nucleotide variantNM_001039141.3(TRIOBP):c.6472+14G>Tnot provided [RCV000726072]|not specified [RCV000244968]benign|conflicting interpretations of pathogenicity|uncertain significance223776583137765831Humanname
11552519CV257683duplicationNM_001039141.3(TRIOBP):c.6472+19dupAutosomal recessive nonsyndromic hearing loss 28 [RCV001838569]|not provided [RCV001618403]|not specified [RCV000254498]benign223776582837765829Human1name
11639513CV272194single nucleotide variantNM_001039141.3(TRIOBP):c.6472+16G>Cnot provided [RCV000321325]uncertain significance223776583337765833Humanname
405208363CV2909213single nucleotide variantNM_001039141.3(TRIOBP):c.6936+14C>Tnot provided [RCV003566779]likely benign223777175037771750Humanname
405117603CV2955710single nucleotide variantNM_001039141.3(TRIOBP):c.5687+18C>Tnot provided [RCV003671117]likely benign223775567737755677Humanname
405245500CV2969088single nucleotide variantNM_001039141.3(TRIOBP):c.6575+18C>Anot provided [RCV003685122]likely benign223776819437768194Humanname
405240384CV3003522single nucleotide variantNM_001039141.3(TRIOBP):c.6936+15T>Cnot provided [RCV003719071]likely benign223777175137771751Humanname
405130086CV3010945single nucleotide variantNM_001039141.3(TRIOBP):c.6324+14G>Anot provided [RCV003701620]likely benign223775927837759278Humanname
405104247CV3116676single nucleotide variantNM_001039141.3(TRIOBP):c.5487+13G>Anot provided [RCV003812200]likely benign223775499737754997Humanname
405163424CV3125187single nucleotide variantNM_001039141.3(TRIOBP):c.6736-10C>Gnot provided [RCV003818459]likely benign223776925237769252Humanname
405195435CV3128684single nucleotide variantNM_001039141.3(TRIOBP):c.5379+17C>Tnot provided [RCV003821422]likely benign223775184537751845Humanname
402524828CV3175876single nucleotide variantNM_001039141.3(TRIOBP):c.4063-17C>Tnot provided [RCV003879976]likely benign223773438237734382Humanname
597903081CV3741553single nucleotide variantNM_001039141.3(TRIOBP):c.5380-12T>Cnot provided [RCV005072524]likely benign223775486537754865Humanname
597855909CV3758728single nucleotide variantNM_001039141.3(TRIOBP):c.6472+15G>Tnot provided [RCV005088688]likely benign223776583237765832Humanname
597958515CV3797253single nucleotide variantNM_001039141.3(TRIOBP):c.6850-13C>Anot provided [RCV005137940]likely benign223777163737771637Humanname
13538063CV497545single nucleotide variantNM_001039141.3(TRIOBP):c.5185-12C>Gnot provided [RCV004722969]|not specified [RCV000611291]uncertain significance223774088337740883Humanname
13539226CV497799single nucleotide variantNM_001039141.3(TRIOBP):c.5380-14C>Tnot provided [RCV001843533]|not specified [RCV000612987]benign|likely benign223775486337754863Humanname
14746336CV669664deletionNM_001039141.3(TRIOBP):c.6575+96delnot provided [RCV000844336]likely benign223776827237768272Humanname
14746335CV670631single nucleotide variantNM_001039141.3(TRIOBP):c.6472+33G>Anot provided [RCV000844335]likely benign223776585037765850Humanname
126740794CV1018830single nucleotide variantNM_001039141.3(TRIOBP):c.6324+204G>TDeafness, autosomal recessive 28 [RCV001329529]pathogenic223775946837759468Humanname
150331523CV1163676single nucleotide variantNM_001039141.3(TRIOBP):c.5185-226C>Tnot provided [RCV001527835]benign223774066937740669Humanname
150413639CV1178615single nucleotide variantNM_001039141.3(TRIOBP):c.4063-264T>Cnot provided [RCV001547862]likely benign223773413537734135Humanname
150406397CV1178617single nucleotide variantNM_001039141.3(TRIOBP):c.5322+262G>Cnot provided [RCV001545247]likely benign223774129437741294Humanname
150422385CV1181992duplicationNM_001039141.3(TRIOBP):c.6576-207dupnot provided [RCV001552563]likely benign223776880637768807Humanname
150422814CV1181993single nucleotide variantNM_001039141.3(TRIOBP):c.6849+219A>Gnot provided [RCV001553157]likely benign223776959437769594Humanname
150425014CV1185679single nucleotide variantNM_001039141.3(TRIOBP):c.5688-262A>Gnot provided [RCV001557439]likely benign223775735137757351Humanname
150424428CV1185681single nucleotide variantNM_001039141.3(TRIOBP):c.6936+172G>Tnot provided [RCV001556645]likely benign223777190837771908Humanname
150407154CV1192384single nucleotide variantNM_001039141.3(TRIOBP):c.3947+180T>Gnot provided [RCV001564932]likely benign223772668337726683Humanname
150413262CV1192389single nucleotide variantNM_001039141.3(TRIOBP):c.6473-179A>Gnot provided [RCV001567145]likely benign223776789537767895Humanname
150407029CV1192390single nucleotide variantNM_001039141.3(TRIOBP):c.6850-213C>Tnot provided [RCV001564883]likely benign223777143737771437Humanname
150407508CV1192391single nucleotide variantNM_001039141.3(TRIOBP):c.6936+120G>Anot provided [RCV001565035]likely benign223777185637771856Humanname
150419052CV1195645single nucleotide variantNM_001039141.3(TRIOBP):c.5379+178G>Anot provided [RCV001569506]likely benign223775200637752006Humanname
150417507CV1199355single nucleotide variantNM_001039141.3(TRIOBP):c.3948-240C>Tnot provided [RCV001576326]likely benign223773305837733058Humanname
150417767CV1199359single nucleotide variantNM_001039141.3(TRIOBP):c.6324+305G>Anot provided [RCV001576447]likely benign223775956937759569Humanname
150412012CV1199360single nucleotide variantNM_001039141.3(TRIOBP):c.6472+315G>Anot provided [RCV001574220]likely benign223776613237766132Humanname
150416537CV1199361deletionNM_001039141.3(TRIOBP):c.6576-207delnot provided [RCV001575923]likely benign223776880737768807Humanname
150421905CV1199362single nucleotide variantNM_001039141.3(TRIOBP):c.6936+123C>Tnot provided [RCV001578228]likely benign223777185937771859Humanname
150437899CV1201328single nucleotide variantNM_001039141.3(TRIOBP):c.4063-225C>Tnot provided [RCV001583140]likely benign223773417437734174Humanname
150489275CV1208405single nucleotide variantNM_001039141.3(TRIOBP):c.6576-181C>Gnot provided [RCV001592265]likely benign223776884737768847Humanname
150482108CV1209913single nucleotide variantNM_001039141.3(TRIOBP):c.5380-192G>Anot provided [RCV001590611]likely benign223775468537754685Humanname
150455161CV1220420single nucleotide variantNM_001039141.3(TRIOBP):c.6576-168C>Gnot provided [RCV001612513]benign223776886037768860Humanname
150506549CV1257368single nucleotide variantNM_001039141.3(TRIOBP):c.6937-100T>Cnot provided [RCV001678208]benign223777250137772501Humanname
150448691CV1260725single nucleotide variantNM_001039141.3(TRIOBP):c.5687+310A>Gnot provided [RCV001680393]benign223775596937755969Humanname
150476143CV1263602single nucleotide variantNM_001039141.3(TRIOBP):c.5688-230C>Gnot provided [RCV001685125]benign223775738337757383Humanname
150441933CV1265859duplicationNM_001039141.3(TRIOBP):c.4062+276dupnot provided [RCV001690584]benign223773366637733667Humanname
150454020CV1265938single nucleotide variantNM_001039141.3(TRIOBP):c.5185-315A>Cnot provided [RCV001692515]benign223774058037740580Humanname
150439680CV1266807deletionNM_001039141.3(TRIOBP):c.4062+276delnot provided [RCV001690242]benign223773366737733667Humanname
150469072CV1268035single nucleotide variantNM_001039141.3(TRIOBP):c.6473-304C>Gnot provided [RCV001694898]benign223776777037767770Human1name
150469072CV1268035single nucleotide variantNM_001039141.3(TRIOBP):c.6473-304C>Gnot provided [RCV001694898]benign223776777037767771Human1name
150474727CV1272377single nucleotide variantNM_001039141.3(TRIOBP):c.3948-219G>Anot provided [RCV001695915]benign223773307937733079Humanname
150486224CV1273979single nucleotide variantNM_001039141.3(TRIOBP):c.6213+268G>Cnot provided [RCV001698899]benign223775840637758406Humanname
150456622CV1278524single nucleotide variantNM_001039141.3(TRIOBP):c.6849+205G>Anot provided [RCV001709139]benign223776958037769580Humanname
150536304CV1302853microsatelliteNM_001039141.3(TRIOBP):c.629-17CT[2]not provided [RCV001761480]uncertain significance223772316837723169Humanname
9690968CV176302single nucleotide variantNM_001039141.3(TRIOBP):c.6324+191G>Anot specified [RCV000156666]likely benign223775945537759455Humanname
9688193CV176424single nucleotide variantNM_001039141.3(TRIOBP):c.6324+162G>ATRIOBP-related disorder [RCV003945195]|not specified [RCV000152145]likely benign|uncertain significance223775942637759426Human1name , alternate_id
9692313CV176425single nucleotide variantNM_001039141.3(TRIOBP):c.6324+194A>Gnot specified [RCV000152146]likely benign223775945837759458Humanname
11096256CV231216single nucleotide variantNM_001039141.3(TRIOBP):c.6324+240G>Anot specified [RCV000223340]uncertain significance223775950437759504Humanname
401908157CV2801294duplicationNM_001039141.3(TRIOBP):c.6324+203dupTRIOBP-related disorder [RCV003397534]likely pathogenic223775946637759467Humanname , trait , alternate_id
13526118CV497547single nucleotide variantNM_001039141.3(TRIOBP):c.6324+235C>Tnot specified [RCV000603692]likely benign223775949937759499Humanname
13536935CV497801single nucleotide variantNM_001039141.3(TRIOBP):c.6324+236G>Anot specified [RCV000609692]likely benign223775950037759500Humanname
8610719CV57017single nucleotide variantNM_001039141.3(TRIOBP):c.6324+226A>Gnot provided [RCV000713874]|not specified [RCV000041122]benign223775949037759490Humanname
14703495CV654946single nucleotide variantNM_001039141.3(TRIOBP):c.6324+177G>Anot specified [RCV000825253]likely benign223775944137759441Humanname
14705228CV654947single nucleotide variantNM_001039141.3(TRIOBP):c.6324+214G>Anot specified [RCV000826061]uncertain significance223775947837759478Humanname
14703500CV654948single nucleotide variantNM_001039141.3(TRIOBP):c.6324+233C>Gnot specified [RCV000825255]likely benign223775949737759497Humanname
150332348CV1173493single nucleotide variantNM_001039141.3(TRIOBP):c.5323-5311A>Gnot provided [RCV001538990]benign223774646137746461Humanname
150409271CV1178618single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5329C>Tnot provided [RCV001546191]likely benign223774636137746361Humanname
150410983CV1178619single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5351G>Tnot provided [RCV001546919]likely benign223774638337746383Humanname
150410920CV1192386deletionNM_001039141.3(TRIOBP):c.5322+5200delnot provided [RCV001566301]likely benign223774621637746216Humanname
150413875CV1192387single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5328C>Gnot provided [RCV001567339]likely benign223774636037746360Humanname
150406496CV1195644duplicationNM_001039141.3(TRIOBP):c.5322+5200dupnot provided [RCV001572036]likely benign223774621537746216Humanname
150419670CV1199357single nucleotide variantNM_001039141.3(TRIOBP):c.5323-5171C>Tnot provided [RCV001577278]likely benign223774660137746601Humanname
150447592CV1201910single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5055C>Gnot provided [RCV001584779]likely benign223774608737746087Humanname
150462234CV1206561single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5077G>Tnot provided [RCV001586962]likely benign223774610937746109Humanname
8586917CV121540single nucleotide variantNM_001039141.2(TRIOBP):c.6325-2708T>CLung cancer [RCV000102060]uncertain significance223776296237762962Humanname
150483312CV1247600single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5160G>Tnot provided [RCV001673426]benign223774619237746192Humanname
150474880CV1271113single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5067G>Cnot provided [RCV001695936]benign223774609937746099Humanname
401926027CV2822186single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5241A>Gnot provided [RCV003437562]likely benign223774627337746273Humanname
408384902CV3506340single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5237G>ATRIOBP-related disorder [RCV004732158]uncertain significance223774626937746269Humanname , trait , alternate_id
596948030CV3547622single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5325G>Anot provided [RCV004811927]likely benign223774635737746357Humanname
598129233CV3888527single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5364G>Anot provided [RCV005244701]likely benign223774639637746396Humanname
13529294CV508152single nucleotide variantNM_001039141.3(TRIOBP):c.5322+5264G>Tnot specified [RCV000600259]likely benign223774629637746296Humanname
13518925CV490529deletionNM_001039141.3(TRIOBP):c.251_254+22delnot provided [RCV000597685]pathogenic223771055337710578Humanname
150517295CV1226743microsatelliteNM_001039141.3(TRIOBP):c.255-252AAAT[9]not provided [RCV001639837]benign223771295837712961Humanname
150456518CV1235218microsatelliteNM_001039141.3(TRIOBP):c.255-252AAAT[8]not provided [RCV001648634]benign223771295837712965Humanname
150428965CV1188994microsatelliteNM_001039141.3(TRIOBP):c.255-252AAAT[12]not provided [RCV001562966]likely benign223771295737712958Humanname
150427723CV1188997microsatelliteNM_001039141.3(TRIOBP):c.5322+5281GGC[9]not provided [RCV001561306]uncertain significance223774631237746313Humanname
150475568CV1263521microsatelliteNM_001039141.3(TRIOBP):c.255-252AAAT[11]not provided [RCV001685044]benign223771295737712958Humanname
401921888CV2822187microsatelliteNM_001039141.3(TRIOBP):c.5322+5281GGC[8]TRIOBP-related disorder [RCV004753684]|not provided [RCV003433208]benign|likely benign223774631237746313Humanname , alternate_id
405273002CV3210301microsatelliteNM_001039141.3(TRIOBP):c.5322+5281GGC[6]TRIOBP-related disorder [RCV003914529]likely benign223774631337746315Humanname , trait , alternate_id
11094570CV231187single nucleotide variantNM_001039141.3(TRIOBP):c.96C>T (p.Ala32=)not provided [RCV001658015]|not specified [RCV000221229]likely benign223770146137701461Humanname
405215262CV2967712single nucleotide variantNM_001039141.3(TRIOBP):c.93G>A (p.Glu31=)not provided [RCV003679878]likely benign223770145837701458Humanname
405201781CV2979166microsatelliteNM_001039141.3(TRIOBP):c.5380-8_5380-6delnot provided [RCV003678253]likely benign223775486537754867Humanname
405257011CV3185438microsatelliteNM_001039141.3(TRIOBP):c.5322+5281GGC[10]TRIOBP-related disorder [RCV003949095]|not provided [RCV003886002]likely benign223774631237746313Humanname , alternate_id
11090606CV231189single nucleotide variantNM_001039141.3(TRIOBP):c.273A>G (p.Ala91=)not specified [RCV000216265]likely benign223771322837713228Humanname
329352695CV2476881single nucleotide variantNM_001039141.3(TRIOBP):c.231A>T (p.Pro77=)not provided [RCV003223113]likely benign223771054337710543Humanname
329352699CV2476882single nucleotide variantNM_001039141.3(TRIOBP):c.237C>G (p.Leu79=)not provided [RCV003223114]likely benign223771054937710549Humanname
597909162CV3781968single nucleotide variantNM_001039141.3(TRIOBP):c.177C>T (p.Ala59=)not provided [RCV005128460]likely benign223771048937710489Humanname
150421083CV1181988deletionNM_001039141.3(TRIOBP):c.255-240_255-234delnot provided [RCV001551849]likely benign223771297037712976Humanname
150424685CV1185675single nucleotide variantNM_001039141.3(TRIOBP):c.381C>T (p.Asn127=)not provided [RCV001556987]likely benign223771333637713336Humanname
150423285CV1185676single nucleotide variantNM_001039141.3(TRIOBP):c.633C>T (p.Thr211=)not provided [RCV001555114]likely benign223772318937723189Humanname
150404501CV1195641single nucleotide variantNM_001039141.3(TRIOBP):c.594T>C (p.Pro198=)not provided [RCV001571186]likely benign223771590037715900Humanname
150463772CV1206779single nucleotide variantNM_001039141.3(TRIOBP):c.636C>T (p.Gly212=)not provided [RCV001587180]likely benign223772319237723192Humanname
150499985CV1224697duplicationNM_001039141.3(TRIOBP):c.-60-107_-60-106dupnot provided [RCV001620529]benign223770119837701199Humanname
150476185CV1239844single nucleotide variantNM_001039141.3(TRIOBP):c.651C>T (p.Ser217=)not provided [RCV001652021]benign223772320737723207Humanname
150556521CV1303214single nucleotide variantNM_001039141.3(TRIOBP):c.41A>G (p.Glu14Gly)not provided [RCV001774407]uncertain significance223770140637701406Humanname
151780351CV1458108single nucleotide variantNM_001039141.3(TRIOBP):c.525G>A (p.Pro175=)not provided [RCV001951009]likely benign223771583137715831Humanname
152159212CV1544358duplicationNM_001039141.3(TRIOBP):c.6472+18_6472+19dupnot provided [RCV002122894]benign223776582837765829Humanname
152084041CV1569623single nucleotide variantNM_001039141.3(TRIOBP):c.732C>G (p.Ser244=)not provided [RCV002113146]likely benign223772328837723288Humanname
152119049CV1589093single nucleotide variantNM_001039141.3(TRIOBP):c.915C>T (p.Thr305=)not provided [RCV002216532]likely benign223772347137723471Humanname
9689700CV176288single nucleotide variantNM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)not provided [RCV000724128]|not specified [RCV000155301]likely benign|conflicting interpretations of pathogenicity|uncertain significance223771578937715789Humanname
156090397CV1919713single nucleotide variantNM_001039141.3(TRIOBP):c.510C>T (p.Leu170=)not provided [RCV002591890]likely benign223771581637715816Humanname
402511096CV2858835single nucleotide variantNM_001039141.3(TRIOBP):c.876C>G (p.Ala292=)not provided [RCV003547028]likely benign223772343237723432Humanname
405272260CV3199246single nucleotide variantNM_001039141.3(TRIOBP):c.837C>T (p.Ser279=)TRIOBP-related disorder [RCV003914197]likely benign223772339337723393Humanname , trait , alternate_id
408367517CV3500184single nucleotide variantNM_001039141.3(TRIOBP):c.837C>G (p.Ser279=)not provided [RCV004722227]likely benign223772339337723393Humanname
408386626CV3524129single nucleotide variantNM_001039141.3(TRIOBP):c.65G>A (p.Arg22His)not provided [RCV004768003]uncertain significance223770143037701430Humanname
596929078CV3540777single nucleotide variantNM_001039141.3(TRIOBP):c.77G>C (p.Cys26Ser)not provided [RCV004795105]uncertain significance223770144237701442Humanname
597955424CV3796231single nucleotide variantNM_001039141.3(TRIOBP):c.993G>A (p.Arg331=)not provided [RCV005137048]likely benign223772354937723549Humanname
13538637CV497797single nucleotide variantNM_001039141.3(TRIOBP):c.64C>T (p.Arg22Cys)not specified [RCV000612125]uncertain significance223770142937701429Humanname
14703493CV654942single nucleotide variantNM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)TRIOBP-related disorder [RCV003965607]|not provided [RCV000906640]|not specified [RCV000825252]benign|likely benign223771331837713318Human1name , alternate_id
127331350CV1129150single nucleotide variantNM_001039141.3(TRIOBP):c.1866T>C (p.Asp622=)not provided [RCV001471493]benign|likely benign223772442237724422Humanname
150416869CV1181991single nucleotide variantNM_001039141.3(TRIOBP):c.2487C>T (p.Thr829=)not provided [RCV001549864]likely benign223772504337725043Humanname
150424146CV1185677single nucleotide variantNM_001039141.3(TRIOBP):c.1989T>C (p.Pro663=)not provided [RCV001556282]likely benign223772454537724545Humanname
150409167CV1192379single nucleotide variantNM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV004820887]|not provided [RCV001565575]likely pathogenic223771047537710475Human1name
150413698CV1192383single nucleotide variantNM_001039141.3(TRIOBP):c.2724G>A (p.Ser908=)TRIOBP-related disorder [RCV003948606]|not provided [RCV001567283]benign|likely benign223772528037725280Human1name , alternate_id
150456399CV1249611single nucleotide variantNM_001039141.3(TRIOBP):c.2610A>G (p.Gln870=)not provided [RCV001668826]benign223772516637725166Humanname
150497288CV1283531single nucleotide variantNM_001039141.3(TRIOBP):c.2664A>G (p.Gln888=)TRIOBP-related disorder [RCV003913335]|not provided [RCV001717827]benign|likely benign223772522037725220Human1name , alternate_id
151807298CV1462697single nucleotide variantNM_001039141.3(TRIOBP):c.2106A>G (p.Gln702=)not provided [RCV001991490]likely benign|uncertain significance223772466237724662Humanname
152051564CV1523476insertionNM_001039141.3(TRIOBP):c.6472+14_6472+15insCAutosomal recessive nonsyndromic hearing loss 28 [RCV003120822]|TRIOBP-related disorder [RCV003923673]|not provided [RCV002127312]benign|likely benign223776583137765832Human1name , alternate_id
152166357CV1524338insertionNM_001039141.3(TRIOBP):c.6472+17_6472+18insTnot provided [RCV002141908]likely benign223776583437765835Humanname
152045155CV1534620single nucleotide variantNM_001039141.3(TRIOBP):c.1519C>A (p.Arg507=)not provided [RCV002088465]likely benign223772407537724075Humanname
152136898CV1537887insertionNM_001039141.3(TRIOBP):c.6472+14_6472+15insTTRIOBP-related disorder [RCV003968746]|not provided [RCV002177541]benign|likely benign223776583137765832Human1name , alternate_id
152032701CV1546396insertionNM_001039141.3(TRIOBP):c.6472+16_6472+17insCnot provided [RCV002124799]benign223776583337765834Humanname
152121669CV1562545single nucleotide variantNM_001039141.3(TRIOBP):c.1584A>G (p.Thr528=)not provided [RCV002098240]likely benign223772414037724140Humanname
152051177CV1569212single nucleotide variantNM_001039141.3(TRIOBP):c.2991C>T (p.Pro997=)not provided [RCV002207541]likely benign223772554737725547Humanname
152157459CV1573217single nucleotide variantNM_001039141.3(TRIOBP):c.1884T>C (p.Cys628=)not provided [RCV002180327]benign223772444037724440Humanname
152072635CV1574481single nucleotide variantNM_001039141.3(TRIOBP):c.1059C>T (p.Asn353=)not provided [RCV002191988]likely benign223772361537723615Humanname
152099264CV1578566insertionNM_001039141.3(TRIOBP):c.6472+15_6472+16insAnot provided [RCV002151605]benign223776583237765833Humanname
152142332CV1586631single nucleotide variantNM_001039141.3(TRIOBP):c.1443T>C (p.Cys481=)not provided [RCV002178222]likely benign223772399937723999Humanname
152057068CV1588391single nucleotide variantNM_001039141.3(TRIOBP):c.1740C>G (p.Ala580=)not provided [RCV002190094]likely benign223772429637724296Humanname
152133779CV1590263single nucleotide variantNM_001039141.3(TRIOBP):c.1650A>C (p.Thr550=)not provided [RCV002218431]likely benign223772420637724206Humanname
152042099CV1609167single nucleotide variantNM_001039141.3(TRIOBP):c.1416C>T (p.Ala472=)not provided [RCV002188399]likely benign223772397237723972Humanname
152158263CV1630722insertionNM_001039141.3(TRIOBP):c.6472+13_6472+14insAnot provided [RCV002122745]benign223776583037765831Humanname
152055161CV1633164insertionNM_001039141.3(TRIOBP):c.6472+13_6472+14insCnot provided [RCV002127687]likely benign223776583037765831Humanname
152160386CV1642465single nucleotide variantNM_001039141.3(TRIOBP):c.1719C>T (p.Asp573=)not provided [RCV002103687]likely benign|conflicting interpretations of pathogenicity223772427537724275Humanname
152028414CV1642781single nucleotide variantNM_001039141.3(TRIOBP):c.2061C>T (p.Pro687=)not provided [RCV002185828]likely benign223772461737724617Humanname
152104444CV1645446single nucleotide variantNM_001039141.3(TRIOBP):c.1968C>T (p.Asp656=)not provided [RCV002133667]likely benign223772452437724524Humanname
152110445CV1665450single nucleotide variantNM_001039141.3(TRIOBP):c.1296C>T (p.Cys432=)not provided [RCV002080173]likely benign223772385237723852Humanname
9692303CV176287single nucleotide variantNM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)Autosomal recessive nonsyndromic hearing loss 28 [RCV002478433]|not provided [RCV000955605]|not specified [RCV000152130]benign|likely benign|conflicting interpretations of pathogenicity223771322037713220Human1name
9692302CV176409single nucleotide variantNM_001039141.3(TRIOBP):c.202A>T (p.Thr68Ser)not specified [RCV000152129]uncertain significance223771051437710514Humanname
156418449CV1911125single nucleotide variantNM_001039141.3(TRIOBP):c.1932A>G (p.Gln644=)TRIOBP-related disorder [RCV003963693]|not provided [RCV002611642]likely benign223772448837724488Human1name , alternate_id
156014100CV1912626single nucleotide variantNM_001039141.3(TRIOBP):c.2178A>G (p.Arg726=)not provided [RCV002619054]likely benign223772473437724734Humanname
156292121CV1926567single nucleotide variantNM_001039141.3(TRIOBP):c.1779T>C (p.Ala593=)not provided [RCV002628857]likely benign223772433537724335Humanname
156414277CV1986570single nucleotide variantNM_001039141.3(TRIOBP):c.203C>T (p.Thr68Ile)not provided [RCV002609128]uncertain significance223771051537710515Humanname
156414279CV1986571single nucleotide variantNM_001039141.3(TRIOBP):c.2079A>G (p.Gln693=)not provided [RCV002609129]likely benign223772463537724635Humanname
156135075CV1998829single nucleotide variantNM_001039141.3(TRIOBP):c.1839C>G (p.Thr613=)not provided [RCV002663361]likely benign223772439537724395Humanname
156193058CV2038059single nucleotide variantNM_001039141.3(TRIOBP):c.157C>G (p.Leu53Val)not provided [RCV002765973]uncertain significance223771046937710469Humanname
156217865CV2107146single nucleotide variantNM_001039141.3(TRIOBP):c.1530C>T (p.Pro510=)not provided [RCV002918437]likely benign223772408637724086Humanname
156301992CV2129546single nucleotide variantNM_001039141.3(TRIOBP):c.2454T>C (p.Cys818=)not provided [RCV002962187]likely benign223772501037725010Humanname
11094176CV231188single nucleotide variantNM_001039141.3(TRIOBP):c.111C>G (p.Tyr37Ter)not specified [RCV000220716]uncertain significance223770147637701476Humanname
11548754CV257682insertionNM_001039141.3(TRIOBP):c.6472+15_6472+16insCnot provided [RCV002057427]|not specified [RCV000249508]benign|likely benign223776583237765833Humanname
11637509CV270908insertionNM_001039141.3(TRIOBP):c.6472+13_6472+14insTAutosomal recessive nonsyndromic hearing loss 28 [RCV001801705]|not provided [RCV002519248]|not specified [RCV000285971]benign|likely benign|uncertain significance223776583037765831Human1name
11641656CV271709insertionNM_001039141.3(TRIOBP):c.6472+19_6472+20insAnot provided [RCV000359137]conflicting interpretations of pathogenicity|uncertain significance223776583637765837Humanname
11641055CV273249single nucleotide variantNM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=)not provided [RCV000350127]conflicting interpretations of pathogenicity|uncertain significance223772536737725367Humanname
405237977CV2881163single nucleotide variantNM_001039141.3(TRIOBP):c.2914T>C (p.Leu972=)not provided [RCV003556664]likely benign223772547037725470Humanname
402499874CV2946947single nucleotide variantNM_001039141.3(TRIOBP):c.2208C>T (p.Asn736=)not provided [RCV003661493]likely benign223772476437724764Humanname
405116622CV2953259single nucleotide variantNM_001039141.3(TRIOBP):c.1224G>A (p.Gln408=)not provided [RCV003666931]likely benign223772378037723780Humanname
405246173CV2965731single nucleotide variantNM_001039141.3(TRIOBP):c.2967C>T (p.Ser989=)not provided [RCV003685363]likely benign223772552337725523Humanname
405093566CV3118836single nucleotide variantNM_001039141.3(TRIOBP):c.2112C>T (p.Asp704=)not provided [RCV003811287]likely benign223772466837724668Humanname
405161396CV3125112insertionNM_001039141.3(TRIOBP):c.6472+15_6472+16insTnot provided [RCV003818383]likely benign223776583237765833Humanname
405088076CV3133994insertionNM_001039141.3(TRIOBP):c.6472+14_6472+15insAnot provided [RCV003834532]likely benign223776583137765832Humanname
405045981CV3141656single nucleotide variantNM_001039141.3(TRIOBP):c.2781C>T (p.Ser927=)not provided [RCV003831757]likely benign223772533737725337Humanname
402464788CV3172667insertionNM_001039141.3(TRIOBP):c.6472+18_6472+19insCnot provided [RCV003872605]likely benign223776583537765836Humanname
404990090CV3176187single nucleotide variantNM_001039141.3(TRIOBP):c.2235A>G (p.Arg745=)not provided [RCV003881512]likely benign223772479137724791Humanname
405262991CV3185066single nucleotide variantNM_001039141.3(TRIOBP):c.2250G>A (p.Gln750=)not provided [RCV003885630]likely benign223772480637724806Humanname
405283419CV3218572single nucleotide variantNM_001039141.3(TRIOBP):c.1074T>C (p.Ser358=)TRIOBP-related disorder [RCV003957352]likely benign223772363037723630Humanname , trait , alternate_id
405266209CV3221077single nucleotide variantNM_001039141.3(TRIOBP):c.1962A>G (p.Arg654=)TRIOBP-related disorder [RCV003969202]likely benign223772451837724518Humanname , trait , alternate_id
405726328CV3235157duplicationNM_001039141.3(TRIOBP):c.390dup (p.Gly131fs)Rare genetic deafness [RCV004018188]likely pathogenic223771334137713342Humanname
596944999CV3543655single nucleotide variantNM_001039141.3(TRIOBP):c.142G>C (p.Val48Leu)not provided [RCV004801777]uncertain significance223771045437710454Humanname
597878473CV3744378single nucleotide variantNM_001039141.3(TRIOBP):c.2637A>G (p.Arg879=)not provided [RCV005069592]likely benign223772519337725193Humanname
597859397CV3832863single nucleotide variantNM_001039141.3(TRIOBP):c.1881C>G (p.Ser627=)not provided [RCV005174776]likely benign223772443737724437Humanname
597955678CV3841915single nucleotide variantNM_001039141.3(TRIOBP):c.1038A>G (p.Ser346=)not provided [RCV005191412]likely benign223772359437723594Humanname
597958456CV3849130single nucleotide variantNM_001039141.3(TRIOBP):c.2004A>G (p.Gln668=)not provided [RCV005192131]likely benign223772456037724560Humanname
597903054CV3851569single nucleotide variantNM_001039141.3(TRIOBP):c.2103C>T (p.Ala701=)not provided [RCV005202346]likely benign223772465937724659Humanname
13518853CV493679single nucleotide variantNM_001039141.3(TRIOBP):c.118C>T (p.Leu40Phe)not provided [RCV000597650]uncertain significance223771043037710430Humanname
8606671CV53018single nucleotide variantNM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)not provided [RCV001560324]|not specified [RCV000036816]likely benign|conflicting interpretations of pathogenicity|uncertain significance223771051437710514Humanname
13832829CV584053single nucleotide variantNM_001039141.3(TRIOBP):c.1446C>A (p.Ala482=)not provided [RCV000727904]uncertain significance223772400237724002Humanname
13832953CV584180single nucleotide variantNM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=)TRIOBP-related disorder [RCV003918184]|not provided [RCV001541041]|not specified [RCV000728068]benign|likely benign223772371437723714Human1name , alternate_id
13834872CV586122single nucleotide variantNM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=)TRIOBP-related disorder [RCV003928228]|not provided [RCV002536446]|not specified [RCV000730494]benign|likely benign223772381937723819Human1name , alternate_id
14399319CV614609single nucleotide variantNM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn)Autosomal recessive nonsyndromic hearing loss 28 [RCV000768433]|not provided [RCV001855722]uncertain significance223771046637710466Human1name
14689871CV615831single nucleotide variantNM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000770882]likely pathogenic223771044337710443Human1name
8637641CV92867single nucleotide variantNM_001039141.3(TRIOBP):c.1740C>A (p.Ala580=)not provided [RCV002054921]|not specified [RCV000179802]benign|not provided223772429637724296Humanname
126744802CV1022102single nucleotide variantNM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV001337110]|TRIOBP-related disorder [RCV003953675]|not provided [RCV001547848]benign|likely benign|uncertain significance223772352037723520Human1name , alternate_id
126913239CV1038837single nucleotide variantNM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)Autosomal recessive nonsyndromic hearing loss 28 [RCV002476636]|TRIOBP-related disorder [RCV003946021]|not provided [RCV001357186]likely benign|conflicting interpretations of pathogenicity|uncertain significance223772326537723265Human1name , alternate_id
126910416CV1053409duplicationNM_001039141.3(TRIOBP):c.2297dup (p.Asn767fs)Hearing impairment [RCV001375140]likely pathogenic|uncertain significance223772485237724853Human2name
150411099CV1178616single nucleotide variantNM_001039141.3(TRIOBP):c.4224G>A (p.Arg1408=)not provided [RCV001546984]likely benign223773456037734560Humanname
150422828CV1181989single nucleotide variantNM_001039141.3(TRIOBP):c.497G>C (p.Ser166Thr)Autosomal recessive nonsyndromic hearing loss 28 [RCV005395072]|TRIOBP-related disorder [RCV004753364]|not provided [RCV001553175]benign|likely benign223771580337715803Human1name , alternate_id
150418624CV1181990single nucleotide variantNM_001039141.3(TRIOBP):c.965C>T (p.Ala322Val)Autosomal recessive nonsyndromic hearing loss 28 [RCV005395070]|TRIOBP-related disorder [RCV003948585]|not provided [RCV001550683]benign|likely benign223772352137723521Human1name , alternate_id
150423855CV1185680single nucleotide variantNM_001039141.3(TRIOBP):c.6861C>T (p.Arg2287=)not provided [RCV001555890]likely benign223777166137771661Humanname
150426973CV1188996single nucleotide variantNM_001039141.3(TRIOBP):c.3867C>T (p.Pro1289=)not provided [RCV001560298]likely benign223772642337726423Humanname
150409808CV1192382single nucleotide variantNM_001039141.3(TRIOBP):c.951G>T (p.Glu317Asp)not provided [RCV001565785]uncertain significance223772350737723507Humanname
150488434CV1208253single nucleotide variantNM_001039141.3(TRIOBP):c.6243G>A (p.Ala2081=)not provided [RCV001592113]likely benign223775918337759183Humanname
150497515CV1208769single nucleotide variantNM_001039141.3(TRIOBP):c.3000T>C (p.Tyr1000=)not provided [RCV001593986]likely benign223772555637725556Humanname
150471003CV1209450single nucleotide variantNM_001039141.3(TRIOBP):c.3369C>T (p.Ser1123=)TRIOBP-related disorder [RCV003910925]|not provided [RCV001588561]likely benign223772592537725925Human1name , alternate_id
150508526CV1214067single nucleotide variantNM_001039141.3(TRIOBP):c.587G>C (p.Arg196Thr)not provided [RCV001596588]uncertain significance223771589337715893Humanname
150501657CV1224243microsatelliteNM_001039141.3(TRIOBP):c.5322+5013CCCGCCGT[3]not provided [RCV001620884]benign223774604437746045Humanname
150516112CV1228242microsatelliteNM_001039141.3(TRIOBP):c.5322+5013CCCGCCGT[4]not provided [RCV001639048]benign223774604437746045Humanname
150492092CV1238110deletionNM_001039141.3(TRIOBP):c.4062+274_4062+276delnot provided [RCV001654956]benign223773366737733669Humanname
150434925CV1244072single nucleotide variantNM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=)TRIOBP-related disorder [RCV003948656]|not provided [RCV001665279]likely benign|conflicting interpretations of pathogenicity|uncertain significance223774098437740984Human1name , alternate_id
150487058CV1283736deletionNM_001039141.3(TRIOBP):c.4062+275_4062+276delnot provided [RCV001715888]benign223773366737733668Humanname
151235097CV1318357single nucleotide variantNM_001039141.3(TRIOBP):c.536G>T (p.Arg179Leu)not provided [RCV001794680]uncertain significance223771584237715842Humanname
151798944CV1347436single nucleotide variantNM_001039141.3(TRIOBP):c.818G>A (p.Arg273His)not provided [RCV002027909]uncertain significance223772337437723374Humanname
151761156CV1349553single nucleotide variantNM_001039141.3(TRIOBP):c.3333T>A (p.Pro1111=)not provided [RCV001949157]likely benign|uncertain significance223772588937725889Humanname
151821705CV1378615single nucleotide variantNM_001039141.3(TRIOBP):c.637G>A (p.Gly213Ser)not provided [RCV002029954]uncertain significance223772319337723193Humanname
151822827CV1424953single nucleotide variantNM_001039141.3(TRIOBP):c.661C>T (p.His221Tyr)not provided [RCV001919743]uncertain significance223772321737723217Humanname
151784552CV1435227single nucleotide variantNM_001039141.3(TRIOBP):c.6255A>G (p.Gln2085=)not provided [RCV001916187]likely benign|uncertain significance223775919537759195Humanname
151735842CV1465882single nucleotide variantNM_001039141.3(TRIOBP):c.3243A>G (p.Gln1081=)not provided [RCV002041702]likely benign|uncertain significance223772579937725799Humanname
151747428CV1478614single nucleotide variantNM_001039141.3(TRIOBP):c.6840C>T (p.Cys2280=)not provided [RCV002022992]likely benign|uncertain significance223776936637769366Humanname
151880023CV1488643single nucleotide variantNM_001039141.3(TRIOBP):c.6471A>G (p.Ser2157=)not provided [RCV001999418]uncertain significance223776581637765816Humanname
151842921CV1511530single nucleotide variantNM_001039141.3(TRIOBP):c.5769G>A (p.Ala1923=)TRIOBP-related disorder [RCV003958450]|not provided [RCV001994976]likely benign223775769437757694Human1name , alternate_id
151729019CV1517606deletionNM_001039141.3(TRIOBP):c.1855del (p.Ala619fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV002052222]likely pathogenic223772441137724411Human1name
152112645CV1541943single nucleotide variantNM_001039141.3(TRIOBP):c.5052G>A (p.Thr1684=)not provided [RCV002116758]likely benign223773538837735388Humanname
152078625CV1557763single nucleotide variantNM_001039141.3(TRIOBP):c.5076T>C (p.Thr1692=)not provided [RCV002170254]likely benign223773541237735412Humanname
152093322CV1570491single nucleotide variantNM_001039141.3(TRIOBP):c.3441T>C (p.Leu1147=)not provided [RCV002213028]likely benign223772599737725997Humanname
152030123CV1570711single nucleotide variantNM_001039141.3(TRIOBP):c.3060C>T (p.His1020=)not provided [RCV002105825]likely benign223772561637725616Humanname
152134898CV1571694single nucleotide variantNM_001039141.3(TRIOBP):c.6921C>T (p.Leu2307=)not provided [RCV002177292]likely benign223777172137771721Humanname
152113002CV1586552single nucleotide variantNM_001039141.3(TRIOBP):c.6744T>C (p.His2248=)not provided [RCV002197031]likely benign223776927037769270Humanname
152136051CV1587759single nucleotide variantNM_001039141.3(TRIOBP):c.572C>T (p.Pro191Leu)not provided [RCV002083515]likely benign|conflicting interpretations of pathogenicity223771587837715878Humanname
152146778CV1608015single nucleotide variantNM_001039141.3(TRIOBP):c.4299G>A (p.Pro1433=)not provided [RCV002178841]likely benign223773463537734635Humanname
152040486CV1609060single nucleotide variantNM_001039141.3(TRIOBP):c.6456G>A (p.Thr2152=)not provided [RCV002107667]likely benign223776580137765801Humanname
152030615CV1622265single nucleotide variantNM_001039141.3(TRIOBP):c.5259C>T (p.Pro1753=)not provided [RCV002186513]likely benign223774096937740969Humanname
152140370CV1624215single nucleotide variantNM_001039141.3(TRIOBP):c.6999A>G (p.Thr2333=)not provided [RCV002138098]likely benign223777266337772663Humanname
152088877CV1638983single nucleotide variantNM_001039141.3(TRIOBP):c.5448T>C (p.Asp1816=)not provided [RCV002150326]likely benign223775494537754945Humanname
8556261CV16531single nucleotide variantNM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001557]pathogenic223772344537723445Human1name
9586998CV165838single nucleotide variantNM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)Autosomal recessive nonsyndromic hearing loss 28 [RCV000144088]|not provided [RCV000179801]likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided223772337137723371Human1name
152078445CV1663817single nucleotide variantNM_001039141.3(TRIOBP):c.5742C>A (p.Gly1914=)not provided [RCV002076049]likely benign223775766737757667Humanname
155714879CV1760386single nucleotide variantNM_001039141.3(TRIOBP):c.646C>T (p.Arg216Trp)not provided [RCV002300893]uncertain significance223772320237723202Humanname
9691060CV176290single nucleotide variantNM_001039141.3(TRIOBP):c.4101G>A (p.Arg1367=)not specified [RCV000156764]likely benign223773443737734437Humanname
9692306CV176295single nucleotide variantNM_001039141.3(TRIOBP):c.4935A>G (p.Ala1645=)not provided [RCV000885102]|not specified [RCV000152136]likely benign223773527137735271Humanname
9689704CV176297single nucleotide variantNM_001039141.3(TRIOBP):c.5358G>T (p.Ser1786=)not provided [RCV005089749]|not specified [RCV000155305]likely benign223775180737751807Humanname
9692318CV176306single nucleotide variantNM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)Autosomal recessive nonsyndromic hearing loss 28 [RCV001001688]|TRIOBP-related disorder [RCV003927471]|not provided [RCV000890423]|not specified [RCV000152151]benign|likely benign223776926737769267Human1name , alternate_id
9690390CV176308single nucleotide variantNM_001039141.3(TRIOBP):c.7017C>T (p.Ile2339=)not specified [RCV000156068]likely benign223777268137772681Humanname
9688188CV176410single nucleotide variantNM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser)not provided [RCV000830829]|not specified [RCV000152131]likely benign223771578337715783Humanname
9689701CV176411single nucleotide variantNM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)Autosomal recessive nonsyndromic hearing loss 28 [RCV001286605]|TRIOBP-related disorder [RCV003927509]|not provided [RCV000843701]|not specified [RCV000155302]benign|likely benign|conflicting interpretations of pathogenicity223771589037715890Human1name , alternate_id
9692305CV176415single nucleotide variantNM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=)not provided [RCV000838005]|not specified [RCV000152134]benign|likely benign223773466537734665Humanname
9688192CV176419single nucleotide variantNM_001039141.3(TRIOBP):c.5349A>T (p.Gly1783=)not specified [RCV000152139]likely benign223775179837751798Humanname
9689705CV176420single nucleotide variantNM_001039141.3(TRIOBP):c.5544C>T (p.Tyr1848=)not provided [RCV003556205]|not specified [RCV000155306]likely benign223775515737755157Humanname
9692308CV176422single nucleotide variantNM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=)not provided [RCV001546527]|not specified [RCV000152140]benign|likely benign223775781137757811Humanname
155803582CV1858144single nucleotide variantNM_001039141.3(TRIOBP):c.5604G>A (p.Ser1868=)not provided [RCV002462453]uncertain significance223775557637755576Humanname
155800519CV1863646single nucleotide variantNM_001039141.3(TRIOBP):c.817C>T (p.Arg273Cys)not provided [RCV002474069]uncertain significance223772337337723373Humanname
156215335CV1910555single nucleotide variantNM_001039141.3(TRIOBP):c.3492G>A (p.Val1164=)not provided [RCV002596239]likely benign223772604837726048Humanname
156280150CV1912131single nucleotide variantNM_001039141.3(TRIOBP):c.638G>A (p.Gly213Asp)not provided [RCV002628401]uncertain significance223772319437723194Humanname
156309045CV1912830single nucleotide variantNM_001039141.3(TRIOBP):c.703C>T (p.Arg235Trp)TRIOBP-related disorder [RCV003946291]|not provided [RCV002599546]likely benign|uncertain significance223772325937723259Human1name , alternate_id
155944508CV1935533single nucleotide variantNM_001039141.3(TRIOBP):c.328G>A (p.Glu110Lys)not provided [RCV002511280]uncertain significance223771328337713283Humanname
156295917CV1955290single nucleotide variantNM_001039141.3(TRIOBP):c.4455G>A (p.Lys1485=)not provided [RCV002578009]likely benign223773479137734791Humanname
156053447CV1974465single nucleotide variantNM_001039141.3(TRIOBP):c.4320T>C (p.His1440=)not provided [RCV002590735]likely benign223773465637734656Humanname
156063985CV1975302single nucleotide variantNM_001039141.3(TRIOBP):c.5079G>A (p.Ala1693=)not provided [RCV002591068]likely benign223773541537735415Humanname
156384393CV1979845single nucleotide variantNM_001039141.3(TRIOBP):c.3474C>T (p.Pro1158=)not provided [RCV002634512]likely benign223772603037726030Humanname
156223611CV1981452single nucleotide variantNM_001039141.3(TRIOBP):c.6693C>T (p.Arg2231=)not provided [RCV002626536]likely benign223776914537769145Humanname
156162214CV2009584single nucleotide variantNM_001039141.3(TRIOBP):c.3831C>G (p.Pro1277=)not provided [RCV002710215]likely benign223772638737726387Humanname
156173265CV2026434single nucleotide variantNM_001039141.3(TRIOBP):c.3138C>T (p.Ala1046=)not provided [RCV002765384]likely benign223772569437725694Humanname
156123482CV2039980single nucleotide variantNM_001039141.3(TRIOBP):c.5022G>A (p.Ala1674=)not provided [RCV002785883]likely benign223773535837735358Humanname
156232624CV2048803single nucleotide variantNM_001039141.3(TRIOBP):c.704G>A (p.Arg235Gln)not provided [RCV002791055]uncertain significance223772326037723260Humanname
156339257CV2092468single nucleotide variantNM_001039141.3(TRIOBP):c.5811C>T (p.Asp1937=)not provided [RCV002900382]likely benign223775773637757736Humanname
156341738CV2103310single nucleotide variantNM_001039141.3(TRIOBP):c.4305G>T (p.Gly1435=)not provided [RCV002900515]likely benign223773464137734641Humanname
156041065CV2130594single nucleotide variantNM_001039141.3(TRIOBP):c.647G>A (p.Arg216Gln)not provided [RCV002949621]uncertain significance223772320337723203Humanname
155919771CV2148821deletionNM_001039141.3(TRIOBP):c.2472del (p.Arg825fs)not provided [RCV002991843]pathogenic223772502537725025Humanname
11092440CV231190single nucleotide variantNM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)not provided [RCV002221514]|not specified [RCV000218540]likely benign|uncertain significance223771336437713364Humanname
11089291CV231191single nucleotide variantNM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)Autosomal recessive nonsyndromic hearing loss 28 [RCV002494556]|not provided [RCV000881690]|not specified [RCV000214626]benign|likely benign223771581037715810Human1name
11088157CV231192single nucleotide variantNM_001039141.3(TRIOBP):c.3948G>A (p.Arg1316=)not specified [RCV000213230]uncertain significance223773329837733298Humanname
11096374CV231195single nucleotide variantNM_001039141.3(TRIOBP):c.4497T>G (p.Thr1499=)not provided [RCV001566849]|not specified [RCV000223500]likely benign223773483337734833Humanname
11090790CV231196single nucleotide variantNM_001039141.3(TRIOBP):c.4548T>C (p.Pro1516=)not provided [RCV005055748]|not specified [RCV000216495]likely benign223773488437734884Humanname
11093725CV231197single nucleotide variantNM_001039141.3(TRIOBP):c.4572G>A (p.Glu1524=)not specified [RCV000220150]likely benign223773490837734908Humanname
11088082CV231199single nucleotide variantNM_001039141.3(TRIOBP):c.4773C>T (p.Ala1591=)not specified [RCV000213125]likely benign223773510937735109Humanname
11088502CV231212single nucleotide variantNM_001039141.3(TRIOBP):c.6039C>G (p.Pro2013=)not specified [RCV000213655]likely benign223775796437757964Humanname
11089845CV231221single nucleotide variantNM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)TRIOBP-related disorder [RCV003947715]|not provided [RCV000731421]|not specified [RCV000215313]likely benign|conflicting interpretations of pathogenicity|uncertain significance223776929737769297Human1name , alternate_id
11090175CV231224single nucleotide variantNM_001039141.3(TRIOBP):c.7032G>A (p.Glu2344=)not provided [RCV000905232]|not specified [RCV000215732]benign|likely benign|conflicting interpretations of pathogenicity223777269637772696Humanname
156451042CV2402419single nucleotide variantNM_001039141.3(TRIOBP):c.433G>A (p.Asp145Asn)not provided [RCV003123218]uncertain significance223771338837713388Humanname
243064201CV2411248single nucleotide variantNM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)Autosomal recessive nonsyndromic hearing loss 28 [RCV003142820]uncertain significance223772326237723262Human1name
11548049CV257679single nucleotide variantNM_001039141.3(TRIOBP):c.4419G>A (p.Pro1473=)not provided [RCV002057426]|not specified [RCV000248574]likely benign223773475537734755Humanname
11642027CV267324single nucleotide variantNM_001039141.3(TRIOBP):c.6723G>C (p.Leu2241=)not provided [RCV000366851]uncertain significance223776917537769175Humanname
11643705CV270742single nucleotide variantNM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=)not provided [RCV000397770]conflicting interpretations of pathogenicity|uncertain significance223772633037726330Humanname
11636556CV271067single nucleotide variantNM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838612]|not provided [RCV002059208]|not specified [RCV000270958]benign223772644137726441Human1name
11639621CV271406single nucleotide variantNM_001039141.3(TRIOBP):c.3429C>T (p.Ser1143=)not provided [RCV000323188]uncertain significance223772598537725985Humanname
11639204CV271877single nucleotide variantNM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV001287744]|not provided [RCV000316782]benign|conflicting interpretations of pathogenicity|uncertain significance223772319037723190Human1name
11642147CV272382single nucleotide variantNM_001039141.3(TRIOBP):c.3084G>A (p.Ser1028=)not provided [RCV000369052]uncertain significance223772564037725640Humanname
11641664CV273626single nucleotide variantNM_001039141.3(TRIOBP):c.3309C>T (p.His1103=)not provided [RCV000360902]conflicting interpretations of pathogenicity|uncertain significance223772586537725865Humanname
11642426CV273764single nucleotide variantNM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)TRIOBP-related disorder [RCV003930173]|not provided [RCV000373888]|not specified [RCV001195467]likely benign|conflicting interpretations of pathogenicity|uncertain significance223775777837757778Human1name , alternate_id
401796410CV2740593single nucleotide variantNM_001039141.3(TRIOBP):c.455T>C (p.Val152Ala)not provided [RCV003321263]uncertain significance223771341037713410Humanname
11642374CV275044single nucleotide variantNM_001039141.3(TRIOBP):c.446C>T (p.Ser149Leu)not provided [RCV000371778]uncertain significance223771340137713401Humanname
401926025CV2822182single nucleotide variantNM_001039141.3(TRIOBP):c.3057G>A (p.Gly1019=)not provided [RCV003437560]likely benign223772561337725613Humanname
401921887CV2822184single nucleotide variantNM_001039141.3(TRIOBP):c.3699A>C (p.Pro1233=)not provided [RCV003433207]likely benign223772625537726255Humanname
401926026CV2822185single nucleotide variantNM_001039141.3(TRIOBP):c.3810C>T (p.Tyr1270=)not provided [RCV003437561]likely benign223772636637726366Humanname
401961214CV2844596single nucleotide variantNM_001039141.3(TRIOBP):c.653C>T (p.Ala218Val)not provided [RCV003480392]uncertain significance223772320937723209Humanname
402503864CV2879905single nucleotide variantNM_001039141.3(TRIOBP):c.6630G>A (p.Ser2210=)not provided [RCV003546181]likely benign223776908237769082Humanname
405129505CV2883910single nucleotide variantNM_001039141.3(TRIOBP):c.3465C>T (p.His1155=)not provided [RCV003559833]likely benign223772602137726021Humanname
405110900CV2906778single nucleotide variantNM_001039141.3(TRIOBP):c.710G>A (p.Arg237Gln)not provided [RCV003557881]likely benign223772326637723266Humanname
405227912CV3039626single nucleotide variantNM_001039141.3(TRIOBP):c.5370G>A (p.Glu1790=)not provided [RCV003710930]likely benign223775181937751819Humanname
405135723CV3052152single nucleotide variantNM_001039141.3(TRIOBP):c.3768G>A (p.Ala1256=)not provided [RCV003725220]likely benign223772632437726324Humanname
405245356CV3054809single nucleotide variantNM_001039141.3(TRIOBP):c.6228G>A (p.Arg2076=)not provided [RCV003720130]likely benign223775916837759168Humanname
405215946CV3055578single nucleotide variantNM_001039141.3(TRIOBP):c.6040C>T (p.Leu2014=)not provided [RCV003732656]likely benign223775796537757965Humanname
405183323CV3057651single nucleotide variantNM_001039141.3(TRIOBP):c.6969C>T (p.Asp2323=)not provided [RCV003728922]likely benign223777263337772633Humanname
405166251CV3059654single nucleotide variantNM_001039141.3(TRIOBP):c.4875G>A (p.Glu1625=)not provided [RCV003727471]likely benign223773521137735211Humanname
405166842CV3059765deletionNM_001039141.3(TRIOBP):c.1342del (p.Arg448fs)not provided [RCV003727515]pathogenic223772389837723898Humanname
405240245CV3060646single nucleotide variantNM_001039141.3(TRIOBP):c.3225G>A (p.Ser1075=)TRIOBP-related disorder [RCV003939187]|not provided [RCV003737087]likely benign223772578137725781Human1name , alternate_id
405152233CV3063868single nucleotide variantNM_001039141.3(TRIOBP):c.3822C>T (p.Ala1274=)not provided [RCV003726503]likely benign223772637837726378Humanname
405201294CV3066914single nucleotide variantNM_001039141.3(TRIOBP):c.7059C>G (p.Leu2353=)not provided [RCV003730799]likely benign223777272337772723Humanname
405201761CV3066918single nucleotide variantNM_001039141.3(TRIOBP):c.6678C>T (p.Arg2226=)not provided [RCV003730802]likely benign223776913037769130Humanname
405242814CV3077271single nucleotide variantNM_001039141.3(TRIOBP):c.6363G>A (p.Ser2121=)not provided [RCV003737655]likely benign223776570837765708Humanname
405133364CV3115198single nucleotide variantNM_001039141.3(TRIOBP):c.5637C>T (p.Ile1879=)not provided [RCV003816043]likely benign223775560937755609Humanname
405164838CV3125311single nucleotide variantNM_001039141.3(TRIOBP):c.5328T>C (p.Asp1776=)not provided [RCV003818583]likely benign223775177737751777Humanname
404979153CV3127761single nucleotide variantNM_001039141.3(TRIOBP):c.6051C>T (p.Asp2017=)not provided [RCV003825793]likely benign223775797637757976Humanname
405128251CV3132972single nucleotide variantNM_001039141.3(TRIOBP):c.4170G>A (p.Gln1390=)not provided [RCV003838135]likely benign223773450637734506Humanname
405123865CV3136376single nucleotide variantNM_001039141.3(TRIOBP):c.4641C>T (p.Tyr1547=)not provided [RCV003837706]likely benign223773497737734977Humanname
405068470CV3140163single nucleotide variantNM_001039141.3(TRIOBP):c.3738G>A (p.Pro1246=)not provided [RCV003833318]likely benign223772629437726294Humanname
402486815CV3181844single nucleotide variantNM_001039141.3(TRIOBP):c.4644G>A (p.Pro1548=)not provided [RCV003876513]likely benign223773498037734980Humanname
405291778CV3206028single nucleotide variantNM_001039141.3(TRIOBP):c.6399C>T (p.His2133=)TRIOBP-related disorder [RCV003964117]likely benign223776574437765744Humanname , trait , alternate_id
405270594CV3213299single nucleotide variantNM_001039141.3(TRIOBP):c.395C>G (p.Ser132Cys)Inborn genetic diseases [RCV004369875]|TRIOBP-related disorder [RCV003971394]uncertain significance223771335037713350Human2name , alternate_id
405696389CV3226725single nucleotide variantNM_001039141.3(TRIOBP):c.3282C>T (p.Ala1094=)not provided [RCV003993118]likely benign223772583837725838Humanname
407426718CV3411518single nucleotide variantNM_001039141.3(TRIOBP):c.5184G>A (p.Ser1728=)not provided [RCV004590696]uncertain significance223773871937738719Humanname
408377897CV3503158single nucleotide variantNM_001039141.3(TRIOBP):c.773A>C (p.Gln258Pro)not provided [RCV004727729]uncertain significance223772332937723329Humanname
408387664CV3518935single nucleotide variantNM_001039141.3(TRIOBP):c.676C>T (p.Arg226Trp)not provided [RCV004761254]uncertain significance223772323237723232Humanname
408392951CV3528315single nucleotide variantNM_001039141.3(TRIOBP):c.384G>C (p.Glu128Asp)not provided [RCV004776083]uncertain significance223771333937713339Humanname
596922904CV3537458single nucleotide variantNM_001039141.3(TRIOBP):c.848G>A (p.Arg283Gln)not provided [RCV004787428]uncertain significance223772340437723404Humanname
596945513CV3547943single nucleotide variantNM_001039141.3(TRIOBP):c.5514C>T (p.Asp1838=)not provided [RCV004809274]likely benign223775512737755127Humanname
597724855CV3734558deletionNM_001039141.3(TRIOBP):c.1104del (p.Pro369fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053865]pathogenic223772365737723657Human1name
597724738CV3734562deletionNM_001039141.3(TRIOBP):c.2220del (p.Gln740fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053869]pathogenic223772477637724776Human1name
597724899CV3734564duplicationNM_001039141.3(TRIOBP):c.2986dup (p.Tyr996fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053871]pathogenic223772554137725542Human1name
597833948CV3735137single nucleotide variantNM_001039141.3(TRIOBP):c.488A>C (p.Glu163Ala)not provided [RCV005054870]uncertain significance223771579437715794Humanname
597846971CV3736678single nucleotide variantNM_001039141.3(TRIOBP):c.5991C>T (p.Thr1997=)not provided [RCV005065837]likely benign223775791637757916Humanname
597906048CV3738715single nucleotide variantNM_001039141.3(TRIOBP):c.4941G>A (p.Gln1647=)not provided [RCV005072949]likely benign223773527737735277Humanname
597912445CV3745711single nucleotide variantNM_001039141.3(TRIOBP):c.7095G>A (p.Glu2365=)not provided [RCV005073712]likely benign223777275937772759Humanname
597872827CV3747224single nucleotide variantNM_001039141.3(TRIOBP):c.6777C>T (p.Arg2259=)not provided [RCV005068908]likely benign223776930337769303Humanname
597873401CV3747324single nucleotide variantNM_001039141.3(TRIOBP):c.3420C>T (p.Pro1140=)not provided [RCV005069008]likely benign223772597637725976Humanname
597856567CV3748063single nucleotide variantNM_001039141.3(TRIOBP):c.5913G>A (p.Lys1971=)not provided [RCV005066885]likely benign223775783837757838Humanname
597970002CV3753474single nucleotide variantNM_001039141.3(TRIOBP):c.4716G>T (p.Gly1572=)not provided [RCV005083959]likely benign223773505237735052Humanname
597855981CV3758735single nucleotide variantNM_001039141.3(TRIOBP):c.505G>A (p.Glu169Lys)not provided [RCV005088695]uncertain significance223771581137715811Humanname
597949000CV3759246single nucleotide variantNM_001039141.3(TRIOBP):c.5223G>A (p.Pro1741=)not provided [RCV005079043]likely benign223774093337740933Humanname
597968665CV3761190single nucleotide variantNM_001039141.3(TRIOBP):c.6915C>T (p.Asp2305=)not provided [RCV005083577]likely benign223777171537771715Humanname
597939888CV3771994deletionNM_001039141.3(TRIOBP):c.1731del (p.Ser578fs)not provided [RCV005118249]pathogenic223772428737724287Humanname
597848796CV3793008deletionNM_001039141.3(TRIOBP):c.1794del (p.Thr599fs)not provided [RCV005145144]pathogenic223772434737724347Humanname
597951416CV3798327single nucleotide variantNM_001039141.3(TRIOBP):c.5016A>T (p.Gly1672=)not provided [RCV005136107]likely benign223773535237735352Humanname
597958279CV3800979deletionNM_001039141.3(TRIOBP):c.50_51del (p.Ile17fs)not provided [RCV005137859]pathogenic223770141437701415Humanname
597934573CV3810953single nucleotide variantNM_001039141.3(TRIOBP):c.5781C>G (p.Val1927=)not provided [RCV005157662]likely benign223775770637757706Humanname
597941834CV3819392single nucleotide variantNM_001039141.3(TRIOBP):c.5988G>A (p.Arg1996=)not provided [RCV005159202]likely benign223775791337757913Humanname
597964122CV3837852single nucleotide variantNM_001039141.3(TRIOBP):c.5286G>T (p.Pro1762=)not provided [RCV005193836]likely benign223774099637740996Humanname
597945079CV3844155single nucleotide variantNM_001039141.3(TRIOBP):c.5484G>A (p.Glu1828=)not provided [RCV005188764]likely benign223775498137754981Humanname
597933638CV3844654single nucleotide variantNM_001039141.3(TRIOBP):c.5535C>G (p.Val1845=)not provided [RCV005186160]likely benign223775514837755148Humanname
598129444CV3888741single nucleotide variantNM_001039141.3(TRIOBP):c.5949C>A (p.Ser1983=)not provided [RCV005244915]likely benign223775787437757874Humanname
598204682CV3896707single nucleotide variantNM_001039141.3(TRIOBP):c.757C>T (p.Arg253Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005356902]likely pathogenic223772331337723313Human1name
616935104CV4009306single nucleotide variantNM_001039141.3(TRIOBP):c.324G>C (p.Glu108Asp)not provided [RCV005402478]uncertain significance223771327937713279Humanname
616939622CV4014119single nucleotide variantNM_001039141.3(TRIOBP):c.6951C>T (p.Thr2317=)not provided [RCV005413611]likely benign223777261537772615Humanname
616937704CV4014877single nucleotide variantNM_001039141.3(TRIOBP):c.910T>C (p.Ser304Pro)not provided [RCV005411893]uncertain significance223772346637723466Humanname
13518199CV488863single nucleotide variantNM_001039141.3(TRIOBP):c.6957A>G (p.Gly2319=)not provided [RCV000597111]uncertain significance223777262137772621Humanname
13517762CV492433single nucleotide variantNM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=)not provided [RCV000596783]conflicting interpretations of pathogenicity|uncertain significance223776570537765705Humanname
13517616CV493399single nucleotide variantNM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=)not provided [RCV000596656]conflicting interpretations of pathogenicity|uncertain significance223772577537725775Humanname
13540444CV497543single nucleotide variantNM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=)Autosomal recessive nonsyndromic hearing loss 28 [RCV002506449]|not provided [RCV001697395]|not specified [RCV000614707]likely benign223773526837735268Human1name
13533300CV497544single nucleotide variantNM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=)TRIOBP-related disorder [RCV003935635]|not provided [RCV000923956]|not specified [RCV000607045]benign|likely benign223773539437735394Human1name , alternate_id
13536014CV497764single nucleotide variantNM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=)not provided [RCV000904392]|not specified [RCV000608392]benign|likely benign223773330437733304Humanname
13535324CV497798single nucleotide variantNM_001039141.3(TRIOBP):c.5247A>G (p.Ser1749=)not provided [RCV003767435]|not specified [RCV000602261]likely benign223774095737740957Humanname
13527355CV497800single nucleotide variantNM_001039141.3(TRIOBP):c.5529G>A (p.Thr1843=)not provided [RCV001591364]|not specified [RCV000599724]likely benign223775514237755142Humanname
13530819CV508161single nucleotide variantNM_001039141.3(TRIOBP):c.5373T>C (p.Pro1791=)not provided [RCV003546575]|not specified [RCV000600842]likely benign223775182237751822Humanname
13532756CV508413single nucleotide variantNM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838634]|not provided [RCV002063042]|not specified [RCV000606900]benign223772320637723206Human1name
8606672CV53019single nucleotide variantNM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)not provided [RCV000713875]|not specified [RCV000036817]benign|likely benign|conflicting interpretations of pathogenicity223771334637713346Humanname
8606673CV53020single nucleotide variantNM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838535]|not provided [RCV002054610]|not specified [RCV000036818]benign223773332537733325Human1name
8606674CV53021single nucleotide variantNM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=)Autosomal recessive nonsyndromic hearing loss 28 [RCV002490498]|not provided [RCV000902443]|not specified [RCV000036819]benign|likely benign|conflicting interpretations of pathogenicity223773441337734413Human1name
8606680CV53027single nucleotide variantNM_001039141.3(TRIOBP):c.5052G>T (p.Thr1684=)not provided [RCV001697029]|not specified [RCV000036825]benign|likely benign|conflicting interpretations of pathogenicity223773538837735388Humanname
8606684CV53031single nucleotide variantNM_001039141.3(TRIOBP):c.5550G>A (p.Val1850=)not provided [RCV002054613]|not specified [RCV000036829]benign223775516337755163Humanname
8606686CV53033single nucleotide variantNM_001039141.3(TRIOBP):c.6135C>T (p.Pro2045=)not provided [RCV000969750]|not specified [RCV000036831]benign|likely benign|conflicting interpretations of pathogenicity223775806037758060Humanname
8606688CV53035single nucleotide variantNM_001039141.3(TRIOBP):c.6498C>T (p.Tyr2166=)not provided [RCV002054614]|not specified [RCV000036833]benign223776809937768099Humanname
13834656CV585906single nucleotide variantNM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)TRIOBP-related disorder [RCV003928226]|not provided [RCV000901476]|not specified [RCV000730233]benign|likely benign223773506437735064Human1name , alternate_id
13838390CV589692single nucleotide variantNM_001039141.3(TRIOBP):c.5655C>T (p.Thr1885=)not provided [RCV000735069]uncertain significance223775562737755627Humanname
14393961CV610173single nucleotide variantNM_001039141.3(TRIOBP):c.7044T>C (p.Leu2348=)not provided [RCV000756808]likely benign223777270837772708Humanname
14689875CV615832single nucleotide variantNM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV000770883]likely pathogenic223772338237723382Human1name
14703503CV654943single nucleotide variantNM_001039141.3(TRIOBP):c.5949C>T (p.Ser1983=)not specified [RCV000825256]likely benign223775787437757874Humanname
14703497CV654950single nucleotide variantNM_001039141.3(TRIOBP):c.6792G>A (p.Ser2264=)not provided [RCV000914188]|not specified [RCV000825254]likely benign|uncertain significance223776931837769318Humanname
14703505CV654952single nucleotide variantNM_001039141.3(TRIOBP):c.6975T>C (p.Tyr2325=)not specified [RCV000825257]likely benign223777263937772639Humanname
14742197CV656693single nucleotide variantNM_001039141.3(TRIOBP):c.4023A>G (p.Gln1341=)not provided [RCV000841205]likely benign223773337337733373Humanname
14739881CV656694single nucleotide variantNM_001039141.3(TRIOBP):c.6414G>A (p.Gln2138=)TRIOBP-related disorder [RCV003918300]|not provided [RCV000840085]benign|likely benign223776575937765759Human1name , alternate_id
14709988CV656695single nucleotide variantNM_001039141.3(TRIOBP):c.6513C>T (p.Ser2171=)not provided [RCV000827580]likely benign223776811437768114Humanname
15178262CV717445single nucleotide variantNM_001039141.3(TRIOBP):c.365T>C (p.Leu122Ser)TRIOBP-related disorder [RCV003943230]|not provided [RCV000973625]likely benign223771332037713320Human1name , alternate_id
15153103CV729179single nucleotide variantNM_001039141.3(TRIOBP):c.5394G>A (p.Ser1798=)not provided [RCV000879942]likely benign223775489137754891Humanname
15161543CV758086single nucleotide variantNM_001039141.3(TRIOBP):c.6141T>G (p.Thr2047=)not provided [RCV000925706]likely benign223775806637758066Humanname
15103660CV773547single nucleotide variantNM_001039141.3(TRIOBP):c.4953G>A (p.Pro1651=)not provided [RCV000937238]likely benign223773528937735289Humanname
15109831CV786599single nucleotide variantNM_001039141.3(TRIOBP):c.4203G>A (p.Arg1401=)not provided [RCV000977317]likely benign223773453937734539Humanname
15129901CV786600single nucleotide variantNM_001039141.3(TRIOBP):c.5511C>T (p.Ile1837=)not provided [RCV000980956]likely benign223775512437755124Humanname
21068436CV793860single nucleotide variantNM_001039141.3(TRIOBP):c.567G>T (p.Arg189Ser)not provided [RCV000993353]uncertain significance223771587337715873Humanname
25318894CV816496single nucleotide variantNM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)Autosomal recessive nonsyndromic hearing loss 28 [RCV001027970]uncertain significance223771584237715842Human1name
8628685CV83829single nucleotide variantNM_001039141.2(TRIOBP):c.3300C>T (p.Ser1100=)Malignant melanoma [RCV000063910]not provided223772585637725856Humanname
38458949CV918463single nucleotide variantNM_001039141.3(TRIOBP):c.301G>A (p.Ala101Thr)not specified [RCV001195469]likely benign223771325637713256Humanname
38458945CV918467single nucleotide variantNM_001039141.3(TRIOBP):c.5358G>A (p.Ser1786=)not specified [RCV001195468]likely benign223775180737751807Humanname
8637640CV92866single nucleotide variantNM_001039141.3(TRIOBP):c.382G>A (p.Glu128Lys)not provided [RCV003332822]uncertain significance|not provided223771333737713337Humanname
126744776CV1022103single nucleotide variantNM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly)Autosomal recessive nonsyndromic hearing loss 28 [RCV001337105]uncertain significance223772375137723751Human1name
126744783CV1022105duplicationNM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV001337107]|Rare genetic deafness [RCV004017820]|not provided [RCV004719138]pathogenic223772578137725782Human1name
126910527CV1053412deletionNM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs)Hearing impairment [RCV001375213]likely pathogenic223773476637734766Human2name
151234051CV1163813duplicationNM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV001799527]|not provided [RCV003660893]pathogenic223772576437725765Human1name
151661212CV1175092single nucleotide variantNM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001822908]pathogenic|likely pathogenic223772389837723898Human1name
150459509CV1202933single nucleotide variantNM_001039141.3(TRIOBP):c.1226G>A (p.Arg409Gln)not provided [RCV001586586]benign|likely benign223772378237723782Humanname
150443462CV1205134single nucleotide variantNM_001039141.3(TRIOBP):c.1090C>T (p.Pro364Ser)not provided [RCV001583977]uncertain significance223772364637723646Humanname
150431091CV1206234single nucleotide variantNM_001039141.3(TRIOBP):c.2234G>A (p.Arg745Lys)not provided [RCV001580882]benign|likely benign223772479037724790Humanname
150483346CV1210117single nucleotide variantNM_001039141.3(TRIOBP):c.1850A>G (p.Asn617Ser)not provided [RCV001590816]likely benign223772440637724406Humanname
150505333CV1213503single nucleotide variantNM_001039141.3(TRIOBP):c.1132C>T (p.Pro378Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV005395089]|not provided [RCV001595759]benign|likely benign223772368837723688Human1name
150453132CV1255048single nucleotide variantNM_001039141.3(TRIOBP):c.2392C>T (p.Arg798Trp)not provided [RCV001668107]benign223772494837724948Humanname
150506894CV1258080single nucleotide variantNM_001039141.3(TRIOBP):c.2992G>A (p.Ala998Thr)Autosomal recessive nonsyndromic hearing loss 28 [RCV005396971]|TRIOBP-related disorder [RCV004753380]|not provided [RCV001678297]benign|likely benign223772554837725548Human1name , alternate_id
150482197CV1279932single nucleotide variantNM_001039141.3(TRIOBP):c.2450C>G (p.Thr817Ser)not provided [RCV001714984]benign223772500637725006Humanname
150546149CV1290731single nucleotide variantNM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu)not provided [RCV001732904]conflicting interpretations of pathogenicity|uncertain significance223772539137725391Humanname
150547033CV1291845single nucleotide variantNM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys)Autosomal recessive nonsyndromic hearing loss 28 [RCV001733528]uncertain significance223772424137724241Human1name
150556144CV1298009single nucleotide variantNM_001039141.3(TRIOBP):c.1159G>C (p.Asp387His)not provided [RCV001773973]uncertain significance223772371537723715Humanname
150553247CV1298288single nucleotide variantNM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val)Autosomal recessive nonsyndromic hearing loss 28 [RCV002477937]|not provided [RCV001768902]uncertain significance223772511137725111Human1name
150553420CV1303411single nucleotide variantNM_001039141.3(TRIOBP):c.2531T>G (p.Leu844Arg)not provided [RCV001769101]uncertain significance223772508737725087Humanname
150552776CV1307251single nucleotide variantNM_001039141.3(TRIOBP):c.2432A>G (p.Gln811Arg)not provided [RCV001768363]uncertain significance223772498837724988Humanname
150553930CV1309608single nucleotide variantNM_001039141.3(TRIOBP):c.2144C>T (p.Thr715Ile)not provided [RCV003238653]uncertain significance223772470037724700Humanname
150545229CV1315491single nucleotide variantNM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV003155590]|not provided [RCV005100935]pathogenic|likely pathogenic223772433937724339Human1name
150545232CV1315493single nucleotide variantNM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001783910]likely pathogenic223772473237724732Human1name
151832222CV1343765single nucleotide variantNM_001039141.3(TRIOBP):c.1253C>T (p.Ser418Phe)not provided [RCV001920601]uncertain significance223772380937723809Humanname
151830371CV1345197single nucleotide variantNM_001039141.3(TRIOBP):c.1819A>G (p.Asn607Asp)not provided [RCV001870475]uncertain significance223772437537724375Humanname
151768356CV1345487single nucleotide variantNM_001039141.3(TRIOBP):c.1304G>A (p.Arg435Gln)not provided [RCV001863836]uncertain significance223772386037723860Humanname
151864503CV1346650single nucleotide variantNM_001039141.3(TRIOBP):c.1157A>C (p.Asp386Ala)not provided [RCV001959655]uncertain significance223772371337723713Humanname
151829509CV1362371single nucleotide variantNM_001039141.3(TRIOBP):c.1892G>A (p.Arg631Gln)not provided [RCV001993576]uncertain significance223772444837724448Humanname
151841414CV1362787single nucleotide variantNM_001039141.3(TRIOBP):c.2000T>C (p.Ile667Thr)not provided [RCV002015383]uncertain significance223772455637724556Humanname
151810247CV1363111single nucleotide variantNM_001039141.3(TRIOBP):c.1715G>A (p.Arg572Gln)not provided [RCV001991758]uncertain significance223772427137724271Humanname
151769994CV1366143deletionNM_001039141.3(TRIOBP):c.6260del (p.Glu2087fs)not provided [RCV001929426]pathogenic223775920037759200Humanname
151885998CV1367170single nucleotide variantNM_001039141.3(TRIOBP):c.2807C>G (p.Ser936Cys)not provided [RCV002000597]uncertain significance223772536337725363Humanname
151877916CV1368949single nucleotide variantNM_001039141.3(TRIOBP):c.2249A>T (p.Gln750Leu)not provided [RCV001999165]uncertain significance223772480537724805Humanname
151781170CV1369614single nucleotide variantNM_001039141.3(TRIOBP):c.1637G>A (p.Arg546Gln)not provided [RCV001930456]uncertain significance223772419337724193Humanname
151710852CV1377149single nucleotide variantNM_001039141.3(TRIOBP):c.1243T>C (p.Ser415Pro)not provided [RCV001889349]uncertain significance223772379937723799Humanname
151869459CV1379349single nucleotide variantNM_001039141.3(TRIOBP):c.1508C>T (p.Ser503Phe)not provided [RCV001906283]uncertain significance223772406437724064Humanname
151739344CV1381779single nucleotide variantNM_001039141.3(TRIOBP):c.1799C>T (p.Thr600Ile)not provided [RCV001967992]uncertain significance223772435537724355Humanname
151845936CV1390081single nucleotide variantNM_001039141.3(TRIOBP):c.2095T>A (p.Ser699Thr)not provided [RCV001881936]uncertain significance223772465137724651Humanname
151851200CV1391721single nucleotide variantNM_001039141.3(TRIOBP):c.1864G>T (p.Asp622Tyr)not provided [RCV002033198]uncertain significance223772442037724420Humanname
151773405CV1402833single nucleotide variantNM_001039141.3(TRIOBP):c.2552G>A (p.Arg851Gln)not provided [RCV001896562]uncertain significance223772510837725108Humanname
151768731CV1411124single nucleotide variantNM_001039141.3(TRIOBP):c.2039A>T (p.Asp680Val)not provided [RCV002045032]uncertain significance223772459537724595Humanname
151819347CV1415962single nucleotide variantNM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala)TRIOBP-related disorder [RCV003923370]|not provided [RCV001919411]benign|conflicting interpretations of pathogenicity|uncertain significance223772424637724246Human1name , alternate_id
151712598CV1423266single nucleotide variantNM_001039141.3(TRIOBP):c.1331G>A (p.Ser444Asn)not provided [RCV002002273]uncertain significance223772388737723887Humanname
151795502CV1434472single nucleotide variantNM_001039141.3(TRIOBP):c.2026T>C (p.Cys676Arg)not provided [RCV001866643]uncertain significance223772458237724582Humanname
151735654CV1440745single nucleotide variantNM_001039141.3(TRIOBP):c.2674C>G (p.Pro892Ala)Autosomal recessive nonsyndromic hearing loss 28 [RCV005397130]|not provided [RCV001911367]uncertain significance223772523037725230Human1name
151763595CV1447531single nucleotide variantNM_001039141.3(TRIOBP):c.1961G>A (p.Arg654Gln)not provided [RCV001895617]uncertain significance223772451737724517Humanname
151763602CV1447532single nucleotide variantNM_001039141.3(TRIOBP):c.1969G>A (p.Asp657Asn)not provided [RCV001895618]uncertain significance223772452537724525Humanname
151776571CV1450600single nucleotide variantNM_001039141.3(TRIOBP):c.2777G>A (p.Arg926His)not provided [RCV001915489]uncertain significance223772533337725333Humanname
151734213CV1452948single nucleotide variantNM_001039141.3(TRIOBP):c.2551C>T (p.Arg851Trp)not provided [RCV002041514]uncertain significance223772510737725107Humanname
151736151CV1464568single nucleotide variantNM_001039141.3(TRIOBP):c.1222C>T (p.Gln408Ter)not provided [RCV001946598]pathogenic223772377837723778Humanname
151888014CV1472143single nucleotide variantNM_001039141.3(TRIOBP):c.1744C>T (p.Arg582Trp)not provided [RCV002000999]uncertain significance223772430037724300Humanname
151779230CV1472345single nucleotide variantNM_001039141.3(TRIOBP):c.1681G>A (p.Ala561Thr)not provided [RCV002026099]uncertain significance223772423737724237Humanname
151890937CV1473170single nucleotide variantNM_001039141.3(TRIOBP):c.1267G>A (p.Ala423Thr)not provided [RCV001888545]uncertain significance223772382337723823Humanname
151807809CV1474687single nucleotide variantNM_001039141.3(TRIOBP):c.1420C>T (p.Arg474Ter)not provided [RCV001932902]pathogenic223772397637723976Humanname
151766725CV1496062single nucleotide variantNM_001039141.3(TRIOBP):c.1772A>G (p.Asn591Ser)TRIOBP-related disorder [RCV003941178]|not provided [RCV001863680]likely benign|uncertain significance223772432837724328Human1name , alternate_id
151810486CV1497388single nucleotide variantNM_001039141.3(TRIOBP):c.1867A>G (p.Asn623Asp)not provided [RCV001974719]uncertain significance223772442337724423Humanname
151889894CV1498474single nucleotide variantNM_001039141.3(TRIOBP):c.2063G>A (p.Ser688Asn)TRIOBP-related disorder [RCV004753463]|not provided [RCV002001389]likely benign|uncertain significance223772461937724619Human1name , alternate_id
152101802CV1540256single nucleotide variantNM_001039141.3(TRIOBP):c.1964G>A (p.Arg655Gln)Inborn genetic diseases [RCV003015259]|TRIOBP-related disorder [RCV003913650]|not provided [RCV002095628]likely benign|uncertain significance223772452037724520Human2name , alternate_id
152139378CV1549677single nucleotide variantNM_001039141.3(TRIOBP):c.1591G>C (p.Ala531Pro)not provided [RCV002156561]benign223772414737724147Humanname
8556259CV16529single nucleotide variantNM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001555]|not provided [RCV000727382]pathogenic223772359537723595Human1name
8556260CV16530single nucleotide variantNM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001556]|Nonsyndromic genetic hearing loss [RCV004017219]pathogenic223772429737724297Human2name
8556262CV16532single nucleotide variantNM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001558]|not provided [RCV005089141]pathogenic223772491837724918Human1name
155714903CV1760388deletionNM_001039141.3(TRIOBP):c.5305del (p.Val1769fs)not provided [RCV002300895]likely pathogenic223774101137741011Humanname
155802992CV1857884single nucleotide variantNM_001039141.3(TRIOBP):c.2821C>T (p.Pro941Ser)not provided [RCV002461734]uncertain significance223772537737725377Humanname
155803879CV1858446single nucleotide variantNM_001039141.3(TRIOBP):c.2939C>T (p.Ser980Phe)Inborn genetic diseases [RCV004067536]|not provided [RCV002462756]uncertain significance223772549537725495Human1name
155795953CV1861577duplicationNM_001039141.3(TRIOBP):c.4436dup (p.Thr1480fs)not provided [RCV002469860]pathogenic|likely pathogenic223773476537734766Humanname
156170966CV1867082single nucleotide variantNM_001039141.3(TRIOBP):c.2696G>A (p.Arg899His)not provided [RCV002508634]uncertain significance223772525237725252Humanname
156052451CV1867753single nucleotide variantNM_001039141.3(TRIOBP):c.2638C>T (p.Pro880Ser)not provided [RCV002510226]uncertain significance223772519437725194Humanname
156384873CV1874776single nucleotide variantNM_001039141.3(TRIOBP):c.2251C>T (p.Arg751Trp)not provided [RCV003050778]uncertain significance223772480737724807Humanname
156080273CV1883482single nucleotide variantNM_001039141.3(TRIOBP):c.1241C>T (p.Ala414Val)Inborn genetic diseases [RCV003079845]|not provided [RCV003069800]uncertain significance223772379737723797Human1name
156308092CV1895060single nucleotide variantNM_001039141.3(TRIOBP):c.1433G>C (p.Arg478Thr)not provided [RCV003088282]uncertain significance223772398937723989Humanname
156413855CV1905623single nucleotide variantNM_001039141.3(TRIOBP):c.2734C>T (p.Arg912Trp)not provided [RCV003073472]uncertain significance223772529037725290Humanname
156418356CV1910996single nucleotide variantNM_001039141.3(TRIOBP):c.1903A>G (p.Arg635Gly)not provided [RCV002611540]uncertain significance223772445937724459Humanname
155954244CV1915255single nucleotide variantNM_001039141.3(TRIOBP):c.1991A>G (p.Asn664Ser)not provided [RCV002616389]uncertain significance223772454737724547Humanname
156403883CV1920232single nucleotide variantNM_001039141.3(TRIOBP):c.1960C>T (p.Arg654Ter)not provided [RCV002605984]pathogenic223772451637724516Humanname
156438691CV1947305single nucleotide variantNM_001039141.3(TRIOBP):c.1633G>T (p.Ala545Ser)not provided [RCV003108637]uncertain significance223772418937724189Humanname
156225832CV1962545duplicationNM_001039141.3(TRIOBP):c.4987dup (p.Gln1663fs)not provided [RCV002596625]pathogenic223773532037735321Humanname
156415760CV1966233single nucleotide variantNM_001039141.3(TRIOBP):c.2363G>A (p.Arg788Gln)not provided [RCV002589350]uncertain significance223772491937724919Humanname
156100647CV1981946single nucleotide variantNM_001039141.3(TRIOBP):c.1421G>A (p.Arg474Gln)not provided [RCV002622200]uncertain significance223772397737723977Humanname
156393315CV1983393single nucleotide variantNM_001039141.3(TRIOBP):c.1576C>T (p.Pro526Ser)not provided [RCV002604881]uncertain significance223772413237724132Humanname
155908308CV2017445single nucleotide variantNM_001039141.3(TRIOBP):c.2548C>T (p.Gln850Ter)not provided [RCV002681533]pathogenic223772510437725104Humanname
156278398CV2053707single nucleotide variantNM_001039141.3(TRIOBP):c.1757G>A (p.Arg586Lys)not provided [RCV002806905]uncertain significance223772431337724313Humanname
155925331CV2073889deletionNM_001039141.3(TRIOBP):c.3718del (p.Leu1240fs)not provided [RCV002838501]pathogenic223772627337726273Humanname
156330687CV2112619single nucleotide variantNM_001039141.3(TRIOBP):c.2082G>C (p.Glu694Asp)not provided [RCV002938349]uncertain significance223772463837724638Humanname
156330708CV2112620single nucleotide variantNM_001039141.3(TRIOBP):c.2084A>G (p.Asn695Ser)not provided [RCV002938350]uncertain significance223772464037724640Humanname
156226475CV2115288single nucleotide variantNM_001039141.3(TRIOBP):c.2266G>A (p.Ala756Thr)not provided [RCV002918770]uncertain significance223772482237724822Humanname
156148119CV2128391single nucleotide variantNM_001039141.3(TRIOBP):c.1627A>G (p.Arg543Gly)not provided [RCV002928803]uncertain significance223772418337724183Humanname
156318456CV2140540single nucleotide variantNM_001039141.3(TRIOBP):c.2096C>T (p.Ser699Phe)not provided [RCV003011537]uncertain significance223772465237724652Humanname
10449713CV215598single nucleotide variantNM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr)TRIOBP-related disorder [RCV004730905]|not provided [RCV001589086]|not specified [RCV000202789]benign|likely benign|uncertain significance223772414737724147Human1name , alternate_id
156292731CV2156505single nucleotide variantNM_001039141.3(TRIOBP):c.1417A>G (p.Thr473Ala)not provided [RCV003010033]uncertain significance223772397337723973Humanname
156379457CV2207973single nucleotide variantNM_001039141.3(TRIOBP):c.2759G>A (p.Arg920Gln)Inborn genetic diseases [RCV002678416]uncertain significance223772531537725315Human1name
155981695CV2233107single nucleotide variantNM_001039141.3(TRIOBP):c.1892G>T (p.Arg631Leu)Inborn genetic diseases [RCV002732525]uncertain significance223772444837724448Human1name
156007721CV2365192single nucleotide variantNM_001039141.3(TRIOBP):c.2654G>A (p.Arg885His)Inborn genetic diseases [RCV002997529]|not provided [RCV004784120]uncertain significance223772521037725210Human1name
155916582CV2366697single nucleotide variantNM_001039141.3(TRIOBP):c.2740A>G (p.Thr914Ala)Inborn genetic diseases [RCV003012677]|not provided [RCV004790456]uncertain significance223772529637725296Human1name
156342846CV2368631single nucleotide variantNM_001039141.3(TRIOBP):c.1238A>G (p.Lys413Arg)Inborn genetic diseases [RCV002674643]likely benign223772379437723794Human1name
155909779CV2395337single nucleotide variantNM_001039141.3(TRIOBP):c.1520G>A (p.Arg507Gln)Inborn genetic diseases [RCV002750035]uncertain significance223772407637724076Human1name
243064198CV2411245single nucleotide variantNM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)Autosomal recessive nonsyndromic hearing loss 28 [RCV003142817]uncertain significance223772484937724849Human1name
243064200CV2411247single nucleotide variantNM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)Autosomal recessive nonsyndromic hearing loss 28 [RCV003142819]uncertain significance223772525137725251Human1name
243064202CV2411249single nucleotide variantNM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV003142821]|not provided [RCV004696316]uncertain significance223772507237725072Human1name
243056262CV2419393single nucleotide variantNM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV003155591]pathogenic223772441737724417Human1name
243056263CV2419394single nucleotide variantNM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV003155592]|TRIOBP-related disorder [RCV003420587]pathogenic223772513737725137Human1name , alternate_id
11525785CV247187single nucleotide variantNM_001039141.3(TRIOBP):c.2582G>A (p.Arg861Gln)not specified [RCV000238865]uncertain significance223772513837725138Humanname
11643424CV270035single nucleotide variantNM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)Autosomal recessive nonsyndromic hearing loss 28 [RCV000765637]|not provided [RCV000393692]conflicting interpretations of pathogenicity|uncertain significance223772383937723839Human1name
11642988CV270996single nucleotide variantNM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)Autosomal recessive nonsyndromic hearing loss 28 [RCV000765638]|not provided [RCV000725895]conflicting interpretations of pathogenicity|uncertain significance223772470537724705Human1name
11643372CV272409single nucleotide variantNM_001039141.3(TRIOBP):c.1874G>C (p.Arg625Thr)not provided [RCV000391829]uncertain significance223772443037724430Humanname
401726361CV2736114single nucleotide variantNM_001039141.3(TRIOBP):c.1015A>G (p.Thr339Ala)not provided [RCV003312560]uncertain significance223772357137723571Humanname
11641843CV273629single nucleotide variantNM_001039141.3(TRIOBP):c.2590C>T (p.Pro864Ser)not provided [RCV000364258]uncertain significance223772514637725146Humanname
11640183CV275023single nucleotide variantNM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)Autosomal recessive nonsyndromic hearing loss 28 [RCV001001791]|TRIOBP-related disorder [RCV003930190]|not provided [RCV000334250]|not specified [RCV003323498]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance223772475737724757Human1name , alternate_id
401926023CV2822181single nucleotide variantNM_001039141.3(TRIOBP):c.1814G>A (p.Arg605Gln)not provided [RCV003437559]likely benign223772437037724370Humanname
401913307CV2830314single nucleotide variantNM_001039141.3(TRIOBP):c.2735G>A (p.Arg912Gln)not provided [RCV003441529]uncertain significance223772529137725291Humanname
405191896CV2928193single nucleotide variantNM_001039141.3(TRIOBP):c.2995G>A (p.Ala999Thr)not provided [RCV003564981]uncertain significance223772555137725551Humanname
405291757CV3206055single nucleotide variantNM_001039141.3(TRIOBP):c.1940G>A (p.Ser647Asn)TRIOBP-related disorder [RCV003964142]benign223772449637724496Humanname , trait , alternate_id
405278784CV3216796single nucleotide variantNM_001039141.3(TRIOBP):c.1727G>C (p.Arg576Thr)TRIOBP-related disorder [RCV003954661]likely benign223772428337724283Humanname , trait , alternate_id
405854073CV3393759single nucleotide variantNM_001039141.3(TRIOBP):c.2749G>C (p.Asp917His)not provided [RCV004546985]uncertain significance223772530537725305Humanname
407425412CV3411239single nucleotide variantNM_001039141.3(TRIOBP):c.1064G>C (p.Arg355Thr)not provided [RCV004588930]uncertain significance223772362037723620Humanname
407429446CV3413857single nucleotide variantNM_001039141.3(TRIOBP):c.2758C>T (p.Arg920Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV004595266]pathogenic223772531437725314Human1name
408379487CV3517916duplicationNM_001039141.3(TRIOBP):c.3833dup (p.Pro1279fs)TRIOBP-related disorder [RCV004752669]|not provided [RCV005104899]pathogenic|likely pathogenic223772638437726385Human1name , alternate_id
408391160CV3521232single nucleotide variantNM_001039141.3(TRIOBP):c.1012A>G (p.Asn338Asp)not provided [RCV004763054]uncertain significance223772356837723568Humanname
408389130CV3522920single nucleotide variantNM_001039141.3(TRIOBP):c.2668A>G (p.Asn890Asp)not provided [RCV004769301]uncertain significance223772522437725224Humanname
408393273CV3528411single nucleotide variantNM_001039141.3(TRIOBP):c.1182C>G (p.Asn394Lys)not provided [RCV004776179]uncertain significance223772373837723738Humanname
596921078CV3534695single nucleotide variantNM_001039141.3(TRIOBP):c.2530C>T (p.Leu844Phe)not provided [RCV004784252]uncertain significance223772508637725086Humanname
596939950CV3550707single nucleotide variantNM_001039141.3(TRIOBP):c.2810T>C (p.Ile937Thr)not provided [RCV004814607]uncertain significance223772536637725366Humanname
597724834CV3734556single nucleotide variantNM_001039141.3(TRIOBP):c.1006C>T (p.Gln336Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053863]pathogenic223772356237723562Human1name
597724859CV3734559single nucleotide variantNM_001039141.3(TRIOBP):c.1150C>T (p.Gln384Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053866]pathogenic223772370637723706Human1name
597724862CV3734560single nucleotide variantNM_001039141.3(TRIOBP):c.1489C>T (p.Arg497Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053867]pathogenic223772404537724045Human1name
597724872CV3734563single nucleotide variantNM_001039141.3(TRIOBP):c.2666G>A (p.Trp889Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053870]likely pathogenic223772522237725222Human1name
597724884CV3734566deletionNM_001039141.3(TRIOBP):c.3011del (p.Leu1004fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053873]pathogenic223772556737725567Human1name
597724895CV3734569duplicationNM_001039141.3(TRIOBP):c.6040dup (p.Leu2014fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053876]likely pathogenic223775795937757960Human1name
597855992CV3758736single nucleotide variantNM_001039141.3(TRIOBP):c.2969G>A (p.Arg990Gln)not provided [RCV005088696]uncertain significance223772552537725525Humanname
597939179CV3836378single nucleotide variantNM_001039141.3(TRIOBP):c.1666C>T (p.Arg556Trp)not provided [RCV005187399]uncertain significance223772422237724222Humanname
597935351CV3863549single nucleotide variantNM_001039141.3(TRIOBP):c.2375G>A (p.Arg792Lys)not provided [RCV005207362]uncertain significance223772493137724931Humanname
598197951CV3892480single nucleotide variantNM_001039141.3(TRIOBP):c.2521C>T (p.Arg841Ter)not provided [RCV005254313]pathogenic223772507737725077Humanname
12858915CV389254single nucleotide variantNM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000454233]pathogenic223772400337724003Human1name
598188624CV4008607single nucleotide variantNM_001039141.3(TRIOBP):c.2069C>G (p.Thr690Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV005396106]uncertain significance223772462537724625Human1name
598188631CV4008608single nucleotide variantNM_001039141.3(TRIOBP):c.2335A>G (p.Arg779Gly)Autosomal recessive nonsyndromic hearing loss 28 [RCV005396107]uncertain significance223772489137724891Human1name
13489268CV446411single nucleotide variantNM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV004586759]|Rare genetic deafness [RCV004017663]|not provided [RCV000523834]pathogenic|likely pathogenic223772375137723751Human1name
13538975CV507582single nucleotide variantNM_001039141.3(TRIOBP):c.1306G>A (p.Asp436Asn)not provided [RCV002063104]|not specified [RCV000612633]benign223772386237723862Humanname
13537652CV507585single nucleotide variantNM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838635]|not provided [RCV002063043]|not specified [RCV000610701]benign223772514537725145Human1name
13533740CV508414single nucleotide variantNM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)Autosomal recessive nonsyndromic hearing loss 28 [RCV000605383]|not provided [RCV000948135]benign|likely benign223772403437724034Human1name
13529265CV513668single nucleotide variantNM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)Autosomal recessive nonsyndromic hearing loss 28 [RCV000626273]uncertain significance223772462037724620Human1name
13704219CV538499single nucleotide variantNM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys)Autosomal recessive nonsyndromic hearing loss 28 [RCV000660494]|not provided [RCV002530574]uncertain significance223772457437724574Human1name
13832960CV584187single nucleotide variantNM_001039141.3(TRIOBP):c.1213T>C (p.Ser405Pro)not provided [RCV000728077]uncertain significance223772376937723769Humanname
13836119CV587388single nucleotide variantNM_001039141.3(TRIOBP):c.1225C>T (p.Arg409Trp)TRIOBP-related disorder [RCV003947938]|not provided [RCV001595038]|not specified [RCV000732124]likely benign223772378137723781Human1name , alternate_id
13836571CV587846single nucleotide variantNM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg)not provided [RCV001533928]|not specified [RCV000732730]benign|likely benign223772466137724661Humanname
14393959CV610171single nucleotide variantNM_001039141.3(TRIOBP):c.2869C>G (p.Gln957Glu)not provided [RCV000756806]uncertain significance223772542537725425Humanname
14395806CV611921single nucleotide variantNM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV002221582]|not provided [RCV000760498]pathogenic|likely pathogenic223772448937724489Human1name
14395845CV611922single nucleotide variantNM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter)not provided [RCV000760557]pathogenic223772552437725524Humanname
14741738CV656691single nucleotide variantNM_001039141.3(TRIOBP):c.1979C>T (p.Ala660Val)not provided [RCV000840923]benign223772453537724535Humanname
14744333CV656692single nucleotide variantNM_001039141.3(TRIOBP):c.2456T>C (p.Ile819Thr)not provided [RCV000842689]benign|likely benign223772501237725012Humanname
21405985CV800188single nucleotide variantNM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV001001615]|not provided [RCV001619876]benign223772503337725033Human1name
8628684CV83828single nucleotide variantNM_001039141.2(TRIOBP):c.2332C>T (p.Pro778Ser)Malignant melanoma [RCV000063909]not provided223772488837724888Humanname
126729698CV986119single nucleotide variantNM_001039141.3(TRIOBP):c.1567C>T (p.Arg523Ter)Deafness, autosomal recessive 28 [RCV001293894]pathogenic223772412337724123Humanname
126744780CV1022104single nucleotide variantNM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly)Autosomal recessive nonsyndromic hearing loss 28 [RCV001337106]|not provided [RCV002286841]uncertain significance223772577037725770Human1name
126744790CV1022106single nucleotide variantNM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001337108]uncertain significance223773481937734819Human1name
126744795CV1022107single nucleotide variantNM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV001337109]|Inborn genetic diseases [RCV002547365]|not provided [RCV001560410]uncertain significance223776908437769084Human2name
126910695CV1053410single nucleotide variantNM_001039141.3(TRIOBP):c.3692G>A (p.Arg1231His)Hearing impairment [RCV001375314]|not provided [RCV001871972]uncertain significance223772624837726248Human2name
126910369CV1053411single nucleotide variantNM_001039141.3(TRIOBP):c.3910C>T (p.Arg1304Cys)Hearing impairment [RCV001375117]uncertain significance223772646637726466Human2name
126910793CV1053413single nucleotide variantNM_001039141.3(TRIOBP):c.5476A>C (p.Thr1826Pro)Hearing impairment [RCV001375396]uncertain significance223775497337754973Human2name
126910795CV1053414single nucleotide variantNM_001039141.3(TRIOBP):c.6049G>C (p.Asp2017His)Hearing impairment [RCV001375397]uncertain significance223775797437757974Human2name
126910289CV1053415single nucleotide variantNM_001039141.3(TRIOBP):c.6328G>A (p.Ala2110Thr)Hearing impairment [RCV001375063]|Inborn genetic diseases [RCV002550947]uncertain significance223776567337765673Human3name
127234543CV1108941single nucleotide variantNM_001039141.3(TRIOBP):c.5788C>T (p.Arg1930Trp)not provided [RCV001762683]|not specified [RCV001449776]uncertain significance223775771337757713Humanname
127234547CV1108942single nucleotide variantNM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His)not provided [RCV001872005]|not specified [RCV001449777]uncertain significance223775918837759188Humanname
150337220CV1166395single nucleotide variantNM_001039141.3(TRIOBP):c.6023G>A (p.Arg2008Gln)not provided [RCV001532468]uncertain significance223775794837757948Humanname
150426030CV1185678microsatelliteNM_001039141.3(TRIOBP):c.5322+5028_5322+5035delnot provided [RCV001558816]likely benign223774604537746052Humanname
150426949CV1188995single nucleotide variantNM_001039141.3(TRIOBP):c.3803A>G (p.Glu1268Gly)not provided [RCV001560265]uncertain significance223772635937726359Humanname
150404994CV1195643single nucleotide variantNM_001039141.3(TRIOBP):c.5273C>A (p.Thr1758Lys)not provided [RCV001571425]uncertain significance223774098337740983Humanname
150411684CV1199354single nucleotide variantNM_001039141.3(TRIOBP):c.3635T>A (p.Leu1212Gln)TRIOBP-related disorder [RCV004753368]|not provided [RCV001574097]likely benign223772619137726191Human1name , alternate_id
150459041CV1202861duplicationNM_001039141.3(TRIOBP):c.5322+4971_5322+4987dupnot provided [RCV001586514]likely benign223774599337745994Humanname
150441579CV1204573single nucleotide variantNM_001039141.3(TRIOBP):c.5765G>A (p.Arg1922Gln)not provided [RCV001583680]uncertain significance223775769037757690Humanname
150451487CV1205401single nucleotide variantNM_001039141.3(TRIOBP):c.3256C>A (p.Pro1086Thr)not provided [RCV001585301]likely benign223772581237725812Humanname
150461984CV1206527single nucleotide variantNM_001039141.3(TRIOBP):c.5404A>T (p.Thr1802Ser)not provided [RCV001586928]likely benign223775490137754901Humanname
150478724CV1207715single nucleotide variantNM_001039141.3(TRIOBP):c.3320A>G (p.Gln1107Arg)not provided [RCV001589991]uncertain significance223772587637725876Humanname
150508778CV1214130single nucleotide variantNM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser)Autosomal recessive nonsyndromic hearing loss 28 [RCV002477864]|not provided [RCV001596651]uncertain significance223773524637735246Human1name
150516164CV1216463duplicationNM_001039141.3(TRIOBP):c.5322+5199_5322+5200dupnot provided [RCV001608654]benign223774621537746216Humanname
150482556CV1244296single nucleotide variantNM_001039141.3(TRIOBP):c.5867C>T (p.Pro1956Leu)TRIOBP-related disorder [RCV004753379]|not provided [RCV001653143]likely benign|conflicting interpretations of pathogenicity|uncertain significance223775779237757792Human1name , alternate_id
150437379CV1244469single nucleotide variantNM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)Autosomal recessive nonsyndromic hearing loss 28 [RCV002471130]|not provided [RCV001665460]|not specified [RCV005408980]uncertain significance223772621837726218Human1name
150507649CV1244619single nucleotide variantNM_001039141.3(TRIOBP):c.3250C>T (p.Pro1084Ser)not provided [RCV001658868]uncertain significance223772580637725806Humanname
150436546CV1244738single nucleotide variantNM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)Autosomal recessive nonsyndromic hearing loss 28 [RCV002471132]|not provided [RCV001658987]|not specified [RCV005408981]uncertain significance223772649837726498Human1name
150508331CV1244805single nucleotide variantNM_001039141.3(TRIOBP):c.6127C>G (p.Arg2043Gly)Inborn genetic diseases [RCV004039928]|not provided [RCV001659054]uncertain significance223775805237758052Human1name
150441447CV1246735duplicationNM_001039141.3(TRIOBP):c.5322+5198_5322+5200dupnot provided [RCV001666389]benign223774621537746216Humanname
150461877CV1272937duplicationNM_001039141.3(TRIOBP):c.5322+5197_5322+5200dupnot provided [RCV001693693]benign223774621537746216Humanname
150520796CV1290615single nucleotide variantNM_001039141.3(TRIOBP):c.3133C>T (p.Arg1045Cys)not provided [RCV001732307]uncertain significance223772568937725689Humanname
150547041CV1291846single nucleotide variantNM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu)Autosomal recessive nonsyndromic hearing loss 28 [RCV001733529]uncertain significance223775491937754919Human1name
150546079CV1291847single nucleotide variantNM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV001732865]uncertain significance223777273737772737Human1name
150532541CV1293532single nucleotide variantNM_001039141.3(TRIOBP):c.3451A>G (p.Met1151Val)not provided [RCV001757809]uncertain significance223772600737726007Humanname
150545615CV1293871single nucleotide variantNM_001039141.3(TRIOBP):c.5518C>T (p.Arg1840Cys)not provided [RCV001763052]uncertain significance223775513137755131Humanname
150540669CV1296061single nucleotide variantNM_001039141.3(TRIOBP):c.5878C>T (p.Arg1960Cys)Inborn genetic diseases [RCV002538810]|not provided [RCV001760530]uncertain significance223775780337757803Human1name
150556321CV1296889single nucleotide variantNM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter)Rare genetic deafness [RCV004017860]|not provided [RCV001774179]likely pathogenic|uncertain significance223774102737741027Humanname
150551532CV1297420single nucleotide variantNM_001039141.3(TRIOBP):c.6310G>C (p.Gly2104Arg)not provided [RCV001767102]uncertain significance223775925037759250Humanname
150527875CV1300876single nucleotide variantNM_001039141.3(TRIOBP):c.3689C>T (p.Pro1230Leu)TRIOBP-related disorder [RCV003416429]|not provided [RCV001754736]uncertain significance223772624537726245Human1name , alternate_id
150556502CV1303192single nucleotide variantNM_001039141.3(TRIOBP):c.6242C>T (p.Ala2081Val)Inborn genetic diseases [RCV002540472]|not provided [RCV001774385]uncertain significance223775918237759182Human1name
150553421CV1303412single nucleotide variantNM_001039141.3(TRIOBP):c.3482C>T (p.Pro1161Leu)not provided [RCV001769102]uncertain significance223772603837726038Humanname
150555879CV1305374single nucleotide variantNM_001039141.3(TRIOBP):c.5903G>T (p.Arg1968Leu)not provided [RCV001773307]uncertain significance223775782837757828Humanname
150553929CV1309607single nucleotide variantNM_001039141.3(TRIOBP):c.6106C>G (p.Leu2036Val)not provided [RCV003238652]uncertain significance223775803137758031Humanname
150545230CV1315492single nucleotide variantNM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001783909]likely pathogenic223773461637734616Human1name
150548417CV1316321single nucleotide variantNM_001039141.3(TRIOBP):c.6169C>T (p.Arg2057Cys)not provided [RCV001786123]uncertain significance223775809437758094Humanname
151235095CV1318354single nucleotide variantNM_001039141.3(TRIOBP):c.3224C>T (p.Ser1075Leu)not provided [RCV001794677]uncertain significance223772578037725780Humanname
151235826CV1319252single nucleotide variantNM_001039141.3(TRIOBP):c.3518C>T (p.Ser1173Phe)Autosomal recessive nonsyndromic hearing loss 28 [RCV005429064]|not provided [RCV001797197]uncertain significance|not provided223772607437726074Human1name
151234745CV1320466single nucleotide variantNM_001039141.3(TRIOBP):c.4675T>C (p.Trp1559Arg)not provided [RCV001800090]uncertain significance223773501137735011Humanname
151351459CV1321817single nucleotide variantNM_001039141.3(TRIOBP):c.5944C>T (p.Arg1982Cys)not provided [RCV001806487]uncertain significance223775786937757869Humanname
151662935CV1330764single nucleotide variantNM_001039141.3(TRIOBP):c.5945G>T (p.Arg1982Leu)not provided [RCV001824500]uncertain significance223775787037757870Humanname
151712321CV1334398single nucleotide variantNM_001039141.3(TRIOBP):c.6694C>T (p.Arg2232Cys)not provided [RCV001840872]uncertain significance223776914637769146Humanname
151716449CV1334679single nucleotide variantNM_001039141.3(TRIOBP):c.3466G>A (p.Glu1156Lys)not provided [RCV001843636]uncertain significance223772602237726022Humanname
151812545CV1347092single nucleotide variantNM_001039141.3(TRIOBP):c.3661C>T (p.Arg1221Trp)not provided [RCV002048996]uncertain significance223772621737726217Humanname
151761144CV1349548single nucleotide variantNM_001039141.3(TRIOBP):c.4270C>G (p.Leu1424Val)not provided [RCV001949156]uncertain significance223773460637734606Humanname
151796944CV1352527single nucleotide variantNM_001039141.3(TRIOBP):c.3201C>G (p.His1067Gln)not provided [RCV001877030]uncertain significance223772575737725757Humanname
151842311CV1357651single nucleotide variantNM_001039141.3(TRIOBP):c.4370G>A (p.Gly1457Glu)TRIOBP-related disorder [RCV004753413]|not provided [RCV001881502]likely benign|uncertain significance223773470637734706Human1name , alternate_id
151842729CV1357755single nucleotide variantNM_001039141.3(TRIOBP):c.6974A>T (p.Tyr2325Phe)not provided [RCV001881555]uncertain significance223777263837772638Humanname
151723810CV1358376single nucleotide variantNM_001039141.3(TRIOBP):c.3415C>A (p.Leu1139Ile)Inborn genetic diseases [RCV002556391]|not provided [RCV001945270]uncertain significance223772597137725971Human1name
151810677CV1359308single nucleotide variantNM_001039141.3(TRIOBP):c.3490G>A (p.Val1164Met)not provided [RCV001991797]uncertain significance223772604637726046Humanname
151810792CV1359330single nucleotide variantNM_001039141.3(TRIOBP):c.3992G>C (p.Arg1331Pro)not provided [RCV001991807]uncertain significance223773334237733342Humanname
151830391CV1362652single nucleotide variantNM_001039141.3(TRIOBP):c.3358C>T (p.Pro1120Ser)not provided [RCV001993659]uncertain significance223772591437725914Humanname
151781849CV1369738single nucleotide variantNM_001039141.3(TRIOBP):c.5950G>A (p.Glu1984Lys)Inborn genetic diseases [RCV004970505]|not provided [RCV001930512]uncertain significance223775787537757875Human1name
151851148CV1378093single nucleotide variantNM_001039141.3(TRIOBP):c.4187C>G (p.Pro1396Arg)not provided [RCV002016602]uncertain significance223773452337734523Humanname
151820588CV1398249single nucleotide variantNM_001039141.3(TRIOBP):c.3341T>C (p.Ile1114Thr)not provided [RCV002013337]uncertain significance223772589737725897Humanname
151747463CV1399289single nucleotide variantNM_001039141.3(TRIOBP):c.3772C>A (p.Pro1258Thr)not provided [RCV001927139]uncertain significance223772632837726328Humanname
151803993CV1401609single nucleotide variantNM_001039141.3(TRIOBP):c.4222C>T (p.Arg1408Trp)not provided [RCV001932570]uncertain significance223773455837734558Humanname
151856572CV1401903single nucleotide variantNM_001039141.3(TRIOBP):c.7030G>A (p.Glu2344Lys)not provided [RCV002017253]uncertain significance223777269437772694Humanname
151764861CV1403205single nucleotide variantNM_001039141.3(TRIOBP):c.5922G>T (p.Glu1974Asp)Inborn genetic diseases [RCV002557864]|not provided [RCV001914395]uncertain significance223775784737757847Human1name
151819363CV1415963single nucleotide variantNM_001039141.3(TRIOBP):c.3412G>T (p.Asp1138Tyr)not provided [RCV001919412]uncertain significance223772596837725968Humanname
151889184CV1419494single nucleotide variantNM_001039141.3(TRIOBP):c.3062G>A (p.Arg1021Gln)not provided [RCV001963376]uncertain significance223772561837725618Humanname
151748507CV1422429single nucleotide variantNM_001039141.3(TRIOBP):c.6563G>A (p.Arg2188Gln)not provided [RCV001927265]uncertain significance223776816437768164Humanname
151817239CV1441129single nucleotide variantNM_001039141.3(TRIOBP):c.7020G>C (p.Glu2340Asp)not provided [RCV001933793]uncertain significance223777268437772684Humanname
151799836CV1445960single nucleotide variantNM_001039141.3(TRIOBP):c.4843C>A (p.Pro1615Thr)not provided [RCV002011464]uncertain significance223773517937735179Humanname
151863162CV1454351single nucleotide variantNM_001039141.3(TRIOBP):c.5903G>A (p.Arg1968His)not provided [RCV001938828]uncertain significance223775782837757828Humanname
151749097CV1460394single nucleotide variantNM_001039141.3(TRIOBP):c.5150A>T (p.Gln1717Leu)not provided [RCV001894142]uncertain significance223773868537738685Humanname
151740920CV1475125single nucleotide variantNM_001039141.3(TRIOBP):c.3919G>T (p.Val1307Leu)not provided [RCV001968141]uncertain significance223772647537726475Humanname
151870446CV1476905single nucleotide variantNM_001039141.3(TRIOBP):c.7054G>A (p.Ala2352Thr)not provided [RCV001925134]uncertain significance223777271837772718Humanname
151828050CV1479899single nucleotide variantNM_001039141.3(TRIOBP):c.5318G>A (p.Arg1773Gln)not provided [RCV001901528]uncertain significance223774102837741028Humanname
151829435CV1491494single nucleotide variantNM_001039141.3(TRIOBP):c.6049G>A (p.Asp2017Asn)not provided [RCV002030653]uncertain significance223775797437757974Humanname
151858358CV1503581single nucleotide variantNM_001039141.3(TRIOBP):c.3449C>T (p.Ser1150Phe)not provided [RCV001996813]uncertain significance223772600537726005Humanname
151797019CV1505698single nucleotide variantNM_001039141.3(TRIOBP):c.5812G>A (p.Gly1938Arg)not provided [RCV002047640]uncertain significance223775773737757737Humanname
151889163CV1509523single nucleotide variantNM_001039141.3(TRIOBP):c.3456C>G (p.Asp1152Glu)not provided [RCV001888121]uncertain significance223772601237726012Humanname
151847215CV1513218single nucleotide variantNM_001039141.3(TRIOBP):c.5207G>A (p.Gly1736Asp)not provided [RCV001922283]uncertain significance223774091737740917Humanname
151766693CV1516361single nucleotide variantNM_001039141.3(TRIOBP):c.3652A>T (p.Ile1218Phe)not provided [RCV002024961]uncertain significance223772620837726208Humanname
151730193CV1517759single nucleotide variantNM_001039141.3(TRIOBP):c.5818C>T (p.Arg1940Cys)not provided [RCV002052374]uncertain significance223775774337757743Humanname
152162217CV1584757single nucleotide variantNM_001039141.3(TRIOBP):c.3926G>A (p.Arg1309His)Inborn genetic diseases [RCV003070577]|TRIOBP-related disorder [RCV003933561]|not provided [RCV002123408]likely benign|uncertain significance223772648237726482Human2name , alternate_id
152141783CV1586317single nucleotide variantNM_001039141.3(TRIOBP):c.3767C>T (p.Ala1256Val)not provided [RCV002178151]benign|likely benign223772632337726323Humanname
8556263CV16533single nucleotide variantNM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001559]pathogenic|likely pathogenic223772575837725758Human1name
8556264CV16534single nucleotide variantNM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001560]|not provided [RCV002460876]pathogenic223772590537725905Human1name
153302221CV1688119single nucleotide variantNM_001039141.3(TRIOBP):c.6161G>A (p.Arg2054His)not provided [RCV002265345]uncertain significance223775808637758086Humanname
155265664CV1695810single nucleotide variantNM_001039141.3(TRIOBP):c.6274G>A (p.Ala2092Thr)not provided [RCV002280542]uncertain significance223775921437759214Humanname
155266659CV1699227single nucleotide variantNM_001039141.3(TRIOBP):c.3217G>T (p.Ala1073Ser)not provided [RCV002283022]uncertain significance223772577337725773Humanname
155267895CV1705197single nucleotide variantNM_001039141.3(TRIOBP):c.3823G>A (p.Asp1275Asn)not provided [RCV002285802]uncertain significance223772637937726379Humanname
155641967CV1706110single nucleotide variantNM_001039141.3(TRIOBP):c.6749G>A (p.Arg2250His)not provided [RCV002286972]uncertain significance223776927537769275Humanname
155642477CV1706272single nucleotide variantNM_001039141.3(TRIOBP):c.6061C>T (p.Arg2021Trp)not provided [RCV002287135]uncertain significance223775798637757986Humanname
155642592CV1706309single nucleotide variantNM_001039141.3(TRIOBP):c.5996A>G (p.Glu1999Gly)not provided [RCV002287173]uncertain significance223775792137757921Humanname
155645150CV1710630single nucleotide variantNM_001039141.3(TRIOBP):c.4102C>T (p.Arg1368Trp)Inborn genetic diseases [RCV003097843]|not provided [RCV002293926]uncertain significance223773443837734438Human1name
155741435CV1760558single nucleotide variantNM_001039141.3(TRIOBP):c.5405C>T (p.Thr1802Ile)not provided [RCV002302618]uncertain significance223775490237754902Humanname
9692304CV176289single nucleotide variantNM_001039141.3(TRIOBP):c.4009C>G (p.Gln1337Glu)not provided [RCV004721277]|not specified [RCV000152132]uncertain significance223773335937733359Humanname
9689702CV176291single nucleotide variantNM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)TRIOBP-related disorder [RCV003945236]|not provided [RCV001564488]|not specified [RCV000155303]benign|likely benign223773447537734475Human1name , alternate_id
9691126CV176292single nucleotide variantNM_001039141.3(TRIOBP):c.4271T>C (p.Leu1424Pro)not specified [RCV000156834]likely benign223773460737734607Humanname
9690424CV176293single nucleotide variantNM_001039141.3(TRIOBP):c.4621G>A (p.Ala1541Thr)not specified [RCV000156102]likely benign223773495737734957Humanname
9690829CV176294single nucleotide variantNM_001039141.3(TRIOBP):c.4645C>T (p.Arg1549Cys)not specified [RCV000156521]likely benign223773498137734981Humanname
9688191CV176296single nucleotide variantNM_001039141.3(TRIOBP):c.5166C>G (p.Asp1722Glu)not provided [RCV002056009]|not specified [RCV000152138]likely benign223773870137738701Humanname
9689200CV176298single nucleotide variantNM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)Meniere disease [RCV004567177]|TRIOBP-related disorder [RCV003937443]|not provided [RCV000969975]|not specified [RCV000154655]benign|likely benign|uncertain significance223775556037755560Human2name , alternate_id
9689706CV176299single nucleotide variantNM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr)Autosomal recessive nonsyndromic hearing loss 28 [RCV005394528]|TRIOBP-related disorder [RCV003937459]|not provided [RCV001517721]|not specified [RCV000155307]benign|likely benign223775769237757692Human1name , alternate_id
9692310CV176300single nucleotide variantNM_001039141.3(TRIOBP):c.5936T>C (p.Leu1979Pro)not provided [RCV002281966]|not specified [RCV000152142]uncertain significance223775786137757861Humanname
9692316CV176304single nucleotide variantNM_001039141.3(TRIOBP):c.6455C>T (p.Thr2152Met)TRIOBP-related disorder [RCV003927470]|not provided [RCV002056010]|not specified [RCV000152149]benign|uncertain significance223776580037765800Human1name , alternate_id
9692319CV176305single nucleotide variantNM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)Nonsyndromic genetic hearing loss [RCV000152152]pathogenic223776905037769050Human1name
9688189CV176412single nucleotide variantNM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)Autosomal recessive nonsyndromic hearing loss 28 [RCV000664422]|Deafness [RCV000509516]|TRIOBP-related disorder [RCV003952729]|not provided [RCV000442379]|not specified [RCV000152133]benign|likely benign|conflicting interpretations of pathogenicity|not provided223773338137733381Human3name , alternate_id
9690880CV176413single nucleotide variantNM_001039141.3(TRIOBP):c.4135C>T (p.Pro1379Ser)not specified [RCV000156574]likely benign223773447137734471Humanname
9690974CV176414single nucleotide variantNM_001039141.3(TRIOBP):c.4244G>A (p.Ser1415Asn)not specified [RCV000156672]likely benign223773458037734580Humanname
9688190CV176416single nucleotide variantNM_001039141.3(TRIOBP):c.4643C>T (p.Pro1548Leu)not provided [RCV000974332]|not specified [RCV000152135]benign223773497937734979Humanname
9689703CV176417single nucleotide variantNM_001039141.3(TRIOBP):c.4666G>A (p.Glu1556Lys)not provided [RCV001355579]|not specified [RCV000155304]uncertain significance223773500237735002Humanname
9692307CV176418single nucleotide variantNM_001039141.3(TRIOBP):c.5117A>G (p.Glu1706Gly)not specified [RCV000152137]uncertain significance223773865237738652Humanname
9692309CV176421single nucleotide variantNM_001039141.3(TRIOBP):c.5693C>T (p.Ser1898Leu)not provided [RCV003764929]|not specified [RCV000152141]uncertain significance223775761837757618Humanname
9692311CV176423single nucleotide variantNM_001039141.3(TRIOBP):c.6184A>G (p.Ser2062Gly)not specified [RCV000152143]likely benign223775810937758109Humanname
9692315CV176426single nucleotide variantNM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV000784920]|TRIOBP-related disorder [RCV003952730]|not provided [RCV001288530]|not specified [RCV000152148]benign|likely benign|uncertain significance223776570737765707Human1name , alternate_id
9688194CV176428single nucleotide variantNM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)not provided [RCV000973056]|not specified [RCV000152153]benign|likely benign|conflicting interpretations of pathogenicity223776926237769262Humanname
9690066CV176429single nucleotide variantNM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp)Hearing impairment [RCV001375240]|not provided [RCV002286708]|not specified [RCV000155715]uncertain significance223776932937769329Human2name
9692321CV176430single nucleotide variantNM_001039141.3(TRIOBP):c.6961T>C (p.Tyr2321His)not provided [RCV001850076]|not specified [RCV000152155]uncertain significance223777262537772625Humanname
155702145CV1771192single nucleotide variantNM_001039141.3(TRIOBP):c.6101A>G (p.Glu2034Gly)not provided [RCV002295674]uncertain significance223775802637758026Humanname
155802837CV1857804single nucleotide variantNM_001039141.3(TRIOBP):c.4691G>C (p.Gly1564Ala)not provided [RCV002461654]uncertain significance223773502737735027Humanname
155798082CV1859564single nucleotide variantNM_001039141.3(TRIOBP):c.5846C>T (p.Ser1949Leu)TRIOBP-related hearing loss [RCV002465358]not provided223775777137757771Humanname , trait
155797365CV1860345single nucleotide variantNM_001039141.3(TRIOBP):c.6959A>G (p.Lys2320Arg)not provided [RCV002466987]uncertain significance223777262337772623Humanname
155994823CV1879432single nucleotide variantNM_001039141.3(TRIOBP):c.6629C>T (p.Ser2210Leu)not provided [RCV003076292]uncertain significance223776908137769081Humanname
156412839CV1886962single nucleotide variantNM_001039141.3(TRIOBP):c.4294G>T (p.Glu1432Ter)not provided [RCV003073054]pathogenic223773463037734630Humanname
156377078CV1896228single nucleotide variantNM_001039141.3(TRIOBP):c.7078C>T (p.Arg2360Cys)not provided [RCV003092962]uncertain significance223777274237772742Humanname
156377337CV1906585single nucleotide variantNM_001039141.3(TRIOBP):c.5251C>T (p.Arg1751Trp)not provided [RCV003092982]uncertain significance223774096137740961Humanname
156367605CV1909470single nucleotide variantNM_001039141.3(TRIOBP):c.4100G>A (p.Arg1367Gln)not provided [RCV002602930]uncertain significance223773443637734436Humanname
156417415CV1909674single nucleotide variantNM_001039141.3(TRIOBP):c.6160C>T (p.Arg2054Cys)Inborn genetic diseases [RCV004963475]|not provided [RCV002610705]uncertain significance223775808537758085Human1name
156357326CV1913891single nucleotide variantNM_001039141.3(TRIOBP):c.6415C>T (p.Arg2139Cys)not provided [RCV002632429]uncertain significance223776576037765760Humanname
156184322CV1924647single nucleotide variantNM_001039141.3(TRIOBP):c.5642C>T (p.Ala1881Val)not provided [RCV002625148]uncertain significance223775561437755614Humanname
156360321CV1925476single nucleotide variantNM_001039141.3(TRIOBP):c.5416C>G (p.Gln1806Glu)Inborn genetic diseases [RCV002651592]|not provided [RCV002651593]uncertain significance223775491337754913Human1name
156211967CV1933986single nucleotide variantNM_001039141.3(TRIOBP):c.4418C>T (p.Pro1473Leu)not provided [RCV002644034]uncertain significance223773475437734754Humanname
156440761CV1940483single nucleotide variantNM_001039141.3(TRIOBP):c.3911G>A (p.Arg1304His)not provided [RCV003110801]uncertain significance223772646737726467Humanname
156441937CV1941593single nucleotide variantNM_001039141.3(TRIOBP):c.4316C>T (p.Pro1439Leu)not provided [RCV003112271]uncertain significance223773465237734652Humanname
156444501CV1948295single nucleotide variantNM_001039141.3(TRIOBP):c.6778G>A (p.Gly2260Ser)not provided [RCV003115425]uncertain significance223776930437769304Humanname
10052975CV195607single nucleotide variantNM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)TRIOBP-related disorder [RCV003947530]|not provided [RCV000179803]likely benign|conflicting interpretations of pathogenicity|uncertain significance223772562437725624Human1name , alternate_id
156407549CV1957526single nucleotide variantNM_001039141.3(TRIOBP):c.5056C>T (p.Pro1686Ser)not provided [RCV002586263]uncertain significance223773539237735392Humanname
156214288CV1963193single nucleotide variantNM_001039141.3(TRIOBP):c.4087G>C (p.Ala1363Pro)not provided [RCV002575272]uncertain significance223773442337734423Humanname
156319893CV1968319single nucleotide variantNM_001039141.3(TRIOBP):c.3890G>A (p.Gly1297Asp)not provided [RCV002630274]uncertain significance223772644637726446Humanname
156330399CV1969911single nucleotide variantNM_001039141.3(TRIOBP):c.7078C>A (p.Arg2360Ser)not provided [RCV002600761]uncertain significance223777274237772742Humanname
156052981CV1974442single nucleotide variantNM_001039141.3(TRIOBP):c.6650G>A (p.Gly2217Glu)not provided [RCV002590720]uncertain significance223776910237769102Humanname
156320782CV1976039single nucleotide variantNM_001039141.3(TRIOBP):c.3163G>A (p.Glu1055Lys)not provided [RCV002600216]uncertain significance223772571937725719Humanname
156060785CV1978979single nucleotide variantNM_001039141.3(TRIOBP):c.5555G>A (p.Arg1852His)not provided [RCV002590970]uncertain significance223775516837755168Humanname
156241074CV1996365single nucleotide variantNM_001039141.3(TRIOBP):c.4784G>A (p.Arg1595His)not provided [RCV002667929]uncertain significance223773512037735120Humanname
156214414CV1997341single nucleotide variantNM_001039141.3(TRIOBP):c.3241C>A (p.Gln1081Lys)not provided [RCV002666970]uncertain significance223772579737725797Humanname
156229561CV2002330single nucleotide variantNM_001039141.3(TRIOBP):c.6542A>C (p.Gln2181Pro)not provided [RCV002667526]uncertain significance223776814337768143Humanname
156349177CV2005491single nucleotide variantNM_001039141.3(TRIOBP):c.5627G>A (p.Arg1876Gln)not provided [RCV002650753]uncertain significance223775559937755599Humanname
155941336CV2006241single nucleotide variantNM_001039141.3(TRIOBP):c.4268C>T (p.Pro1423Leu)not provided [RCV002685481]uncertain significance223773460437734604Humanname
156306050CV2013738single nucleotide variantNM_001039141.3(TRIOBP):c.3308A>G (p.His1103Arg)not provided [RCV002716283]uncertain significance223772586437725864Humanname
156094302CV2014307single nucleotide variantNM_001039141.3(TRIOBP):c.5051C>T (p.Thr1684Met)not provided [RCV002695057]uncertain significance223773538737735387Humanname
156197299CV2038325single nucleotide variantNM_001039141.3(TRIOBP):c.6671A>G (p.Glu2224Gly)not provided [RCV002766109]uncertain significance223776912337769123Humanname
156016417CV2046789single nucleotide variantNM_001039141.3(TRIOBP):c.3556C>T (p.Leu1186Phe)not provided [RCV002756959]uncertain significance223772611237726112Humanname
155952364CV2076473single nucleotide variantNM_001039141.3(TRIOBP):c.6525C>G (p.Ser2175Arg)not provided [RCV002862416]uncertain significance223776812637768126Humanname
155926153CV2099591single nucleotide variantNM_001039141.3(TRIOBP):c.3293G>A (p.Cys1098Tyr)not provided [RCV002903585]uncertain significance223772584937725849Humanname
156224346CV2103634single nucleotide variantNM_001039141.3(TRIOBP):c.4567G>A (p.Ala1523Thr)not provided [RCV002918695]uncertain significance223773490337734903Humanname
156001796CV2119048single nucleotide variantNM_001039141.3(TRIOBP):c.5367C>G (p.Asp1789Glu)Inborn genetic diseases [RCV002975220]|not provided [RCV002975219]uncertain significance223775181637751816Human1name
156140957CV2125745single nucleotide variantNM_001039141.3(TRIOBP):c.5713G>A (p.Ala1905Thr)not provided [RCV002954231]uncertain significance223775763837757638Humanname
156364731CV2130521single nucleotide variantNM_001039141.3(TRIOBP):c.4442C>T (p.Ser1481Phe)not provided [RCV002967218]likely benign223773477837734778Humanname
156109604CV2140080single nucleotide variantNM_001039141.3(TRIOBP):c.5881A>G (p.Thr1961Ala)not provided [RCV003002534]uncertain significance223775780637757806Humanname
155976135CV2151107single nucleotide variantNM_001039141.3(TRIOBP):c.3340A>G (p.Ile1114Val)not provided [RCV003033658]uncertain significance223772589637725896Humanname
156369756CV2194074single nucleotide variantNM_001039141.3(TRIOBP):c.5326G>A (p.Asp1776Asn)Inborn genetic diseases [RCV002652633]uncertain significance223775177537751775Human1name
155923194CV2217573single nucleotide variantNM_001039141.3(TRIOBP):c.5995G>C (p.Glu1999Gln)Inborn genetic diseases [RCV002683145]uncertain significance223775792037757920Human1name
156387758CV2221601single nucleotide variantNM_001039141.3(TRIOBP):c.3359C>A (p.Pro1120His)Inborn genetic diseases [RCV002723960]uncertain significance223772591537725915Human1name
155930393CV2224729single nucleotide variantNM_001039141.3(TRIOBP):c.5048A>G (p.Gln1683Arg)Inborn genetic diseases [RCV002728671]uncertain significance223773538437735384Human1name
155942784CV2225875single nucleotide variantNM_001039141.3(TRIOBP):c.5714C>T (p.Ala1905Val)Inborn genetic diseases [RCV002752149]uncertain significance223775763937757639Human1name
156288061CV2229716single nucleotide variantNM_001039141.3(TRIOBP):c.5049G>C (p.Gln1683His)Inborn genetic diseases [RCV002747562]uncertain significance223773538537735385Human1name
155975190CV2235831single nucleotide variantNM_001039141.3(TRIOBP):c.3760G>A (p.Gly1254Ser)Inborn genetic diseases [RCV002777206]uncertain significance223772631637726316Human1name
155948313CV2245905single nucleotide variantNM_001039141.3(TRIOBP):c.3664G>C (p.Asp1222His)Inborn genetic diseases [RCV002752764]uncertain significance223772622037726220Human1name
156367124CV2269826single nucleotide variantNM_001039141.3(TRIOBP):c.5873G>A (p.Arg1958Gln)Inborn genetic diseases [RCV002813712]uncertain significance223775779837757798Human1name
12907365CV227416single nucleotide variantNM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His)Autosomal recessive nonsyndromic hearing loss 28 [RCV000490368]uncertain significance223777166037771660Human1name
156095278CV2297361single nucleotide variantNM_001039141.3(TRIOBP):c.5792G>C (p.Gly1931Ala)Inborn genetic diseases [RCV002870090]uncertain significance223775771737757717Human1name
155909789CV2303460single nucleotide variantNM_001039141.3(TRIOBP):c.5561A>G (p.Tyr1854Cys)Inborn genetic diseases [RCV002902391]uncertain significance223775517437755174Human1name
11095403CV231194single nucleotide variantNM_001039141.3(TRIOBP):c.4165C>A (p.Leu1389Ile)not provided [RCV000905229]|not specified [RCV000222264]benign|likely benign|conflicting interpretations of pathogenicity223773450137734501Humanname
11088916CV231198single nucleotide variantNM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly)not provided [RCV000926485]|not specified [RCV000214164]benign|uncertain significance223773503937735039Humanname
11091011CV231200single nucleotide variantNM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)Inborn genetic diseases [RCV002519619]|not provided [RCV000731187]|not specified [RCV000216779]likely benign|conflicting interpretations of pathogenicity|uncertain significance223773511937735119Human1name
11091707CV231201single nucleotide variantNM_001039141.3(TRIOBP):c.5167C>A (p.Gln1723Lys)not provided [RCV001559786]|not specified [RCV000217627]uncertain significance223773870237738702Humanname
11095128CV231202single nucleotide variantNM_001039141.3(TRIOBP):c.5266C>T (p.Arg1756Trp)not provided [RCV001731529]|not specified [RCV000221922]uncertain significance223774097637740976Humanname
11093921CV231203single nucleotide variantNM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala)not provided [RCV000893082]|not specified [RCV000220382]likely benign223775182737751827Humanname
11088318CV231204single nucleotide variantNM_001039141.3(TRIOBP):c.5393C>T (p.Ser1798Leu)not specified [RCV000213426]likely benign223775489037754890Humanname
11088979CV231206single nucleotide variantNM_001039141.3(TRIOBP):c.5519G>A (p.Arg1840His)not provided [RCV002284380]|not specified [RCV000214241]uncertain significance223775513237755132Humanname
11091496CV231207single nucleotide variantNM_001039141.3(TRIOBP):c.5528C>T (p.Thr1843Met)Inborn genetic diseases [RCV002519658]|not specified [RCV000217372]uncertain significance223775514137755141Human1name
11089876CV231208single nucleotide variantNM_001039141.3(TRIOBP):c.5575C>G (p.His1859Asp)not specified [RCV000215350]uncertain significance223775518837755188Humanname
11093315CV231209single nucleotide variantNM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr)Autosomal recessive nonsyndromic hearing loss 28 [RCV000765639]|Inborn genetic diseases [RCV004020639]|TRIOBP-related disorder [RCV003929911]|not provided [RCV000727151]|not specified [RCV000219620]uncertain significance223775763037757630Human2name , alternate_id
11095196CV231210single nucleotide variantNM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)not provided [RCV001853421]|not specified [RCV000222013]likely benign|uncertain significance223775770737757707Humanname
11094923CV231211single nucleotide variantNM_001039141.3(TRIOBP):c.5891G>A (p.Arg1964His)Inborn genetic diseases [RCV002518219]|not provided [RCV003480558]|not specified [RCV000221663]uncertain significance223775781637757816Human1name
11094471CV231213single nucleotide variantNM_001039141.3(TRIOBP):c.6170G>A (p.Arg2057His)not provided [RCV004692841]|not specified [RCV000221099]uncertain significance223775809537758095Humanname
11089419CV231214single nucleotide variantNM_001039141.3(TRIOBP):c.6196G>A (p.Glu2066Lys)Hearing loss, autosomal recessive [RCV005361240]|Inborn genetic diseases [RCV002518220]|not provided [RCV004589911]|not specified [RCV000214780]uncertain significance223775812137758121Human3name
11092878CV231215single nucleotide variantNM_001039141.3(TRIOBP):c.6205G>A (p.Glu2069Lys)not specified [RCV000219084]uncertain significance223775813037758130Humanname
11090312CV231217single nucleotide variantNM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)Autosomal recessive nonsyndromic hearing loss 28 [RCV000765640]|not provided [RCV001857752]|not specified [RCV000215900]likely benign|uncertain significance223776811637768116Human1name
11091465CV231218single nucleotide variantNM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)not provided [RCV000827584]|not specified [RCV000217336]likely benign|conflicting interpretations of pathogenicity|drug response223776815737768157Humanname
11091747CV231219single nucleotide variantNM_001039141.3(TRIOBP):c.6571C>T (p.His2191Tyr)not provided [RCV000905230]|not specified [RCV000217679]benign|likely benign|conflicting interpretations of pathogenicity223776817237768172Humanname
11095158CV231222single nucleotide variantNM_001039141.3(TRIOBP):c.6806A>G (p.Asn2269Ser)not provided [RCV000905231]|not specified [RCV000221957]benign|likely benign|conflicting interpretations of pathogenicity223776933237769332Humanname
11092733CV231223single nucleotide variantNM_001039141.3(TRIOBP):c.6986G>A (p.Ser2329Asn)not specified [RCV000218912]likely benign223777265037772650Humanname
156337251CV2343027single nucleotide variantNM_001039141.3(TRIOBP):c.6974A>G (p.Tyr2325Cys)Inborn genetic diseases [RCV002964876]|not provided [RCV004765728]uncertain significance223777263837772638Human1name
156342437CV2368553single nucleotide variantNM_001039141.3(TRIOBP):c.5879G>A (p.Arg1960His)Inborn genetic diseases [RCV002674591]uncertain significance223775780437757804Human1name
155935580CV2371826single nucleotide variantNM_001039141.3(TRIOBP):c.5044G>A (p.Glu1682Lys)Inborn genetic diseases [RCV002684822]uncertain significance223773538037735380Human1name
156056001CV2396181single nucleotide variantNM_001039141.3(TRIOBP):c.5285C>T (p.Pro1762Leu)Inborn genetic diseases [RCV002759620]uncertain significance223774099537740995Human1name
156171555CV2400691single nucleotide variantNM_001039141.3(TRIOBP):c.3026C>G (p.Pro1009Arg)Inborn genetic diseases [RCV002765317]uncertain significance223772558237725582Human1name
243064199CV2411246single nucleotide variantNM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)Autosomal recessive nonsyndromic hearing loss 28 [RCV003142818]|not provided [RCV005060973]uncertain significance223773487437734874Human1name
243050457CV2419633single nucleotide variantNM_001039141.3(TRIOBP):c.3761G>T (p.Gly1254Val)not provided [RCV003156565]uncertain significance223772631737726317Humanname
329367372CV2456781single nucleotide variantNM_001039141.3(TRIOBP):c.5410A>G (p.Thr1804Ala)Inborn genetic diseases [RCV003208250]uncertain significance223775490737754907Human1name
329367374CV2456782single nucleotide variantNM_001039141.3(TRIOBP):c.6011A>T (p.Glu2004Val)Inborn genetic diseases [RCV003208251]|not provided [RCV005061078]uncertain significance223775793637757936Human1name
329401446CV2460897single nucleotide variantNM_001039141.3(TRIOBP):c.6163G>A (p.Gly2055Arg)Inborn genetic diseases [RCV003198453]uncertain significance223775808837758088Human1name
329393129CV2466707single nucleotide variantNM_001039141.3(TRIOBP):c.5722A>G (p.Ser1908Gly)Inborn genetic diseases [RCV003218152]likely benign223775764737757647Human1name
11525980CV247188single nucleotide variantNM_001039141.3(TRIOBP):c.3232C>T (p.Arg1078Cys)not provided [RCV001722278]|not specified [RCV000239147]benign|likely benign|conflicting interpretations of pathogenicity223772578837725788Humanname
329395415CV2473137single nucleotide variantNM_001039141.3(TRIOBP):c.6118G>A (p.Glu2040Lys)not provided [RCV003219121]uncertain significance223775804337758043Humanname
329351097CV2477926single nucleotide variantNM_001039141.3(TRIOBP):c.7001G>A (p.Arg2334Gln)not provided [RCV003224039]uncertain significance223777266537772665Humanname
329847171CV2534330single nucleotide variantNM_001039141.3(TRIOBP):c.6079G>A (p.Glu2027Lys)not provided [RCV003228539]uncertain significance223775800437758004Humanname
11551375CV257680single nucleotide variantNM_001039141.3(TRIOBP):c.5764C>T (p.Arg1922Trp)not provided [RCV000927547]|not specified [RCV000252969]benign|likely benign223775768937757689Humanname
329848148CV2667767single nucleotide variantNM_001039141.3(TRIOBP):c.3955G>A (p.Glu1319Lys)not provided [RCV003229334]uncertain significance223773330537733305Humanname
11638009CV270985single nucleotide variantNM_001039141.3(TRIOBP):c.3074G>A (p.Arg1025Gln)Autosomal recessive nonsyndromic hearing loss 28 [RCV005396890]|not provided [RCV001651315]|not specified [RCV000295712]benign|likely benign223772563037725630Human1name
11639865CV271068single nucleotide variantNM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838613]|not provided [RCV002059209]|not specified [RCV000328335]benign223772645537726455Human1name
401722997CV2737766single nucleotide variantNM_001039141.3(TRIOBP):c.4406C>A (p.Ala1469Glu)not provided [RCV003314938]uncertain significance223773474237734742Humanname
401740384CV2738712single nucleotide variantNM_001039141.3(TRIOBP):c.6748C>T (p.Arg2250Cys)not provided [RCV003318106]uncertain significance223776927437769274Humanname
401740912CV2738769single nucleotide variantNM_001039141.3(TRIOBP):c.5233C>T (p.Arg1745Ter)not provided [RCV003318163]likely pathogenic223774094337740943Humanname
11637611CV273949single nucleotide variantNM_001039141.3(TRIOBP):c.3944G>A (p.Arg1315His)not provided [RCV000288899]uncertain significance223772650037726500Humanname
401828243CV2744601single nucleotide variantNM_001039141.3(TRIOBP):c.6025G>T (p.Gly2009Cys)not provided [RCV003327999]uncertain significance223775795037757950Humanname
401867375CV2748895single nucleotide variantNM_001039141.3(TRIOBP):c.3737C>T (p.Pro1246Leu)not specified [RCV003331717]uncertain significance223772629337726293Humanname
401921798CV2800004single nucleotide variantNM_001039141.3(TRIOBP):c.3758G>A (p.Arg1253Gln)TRIOBP-related disorder [RCV003403088]uncertain significance223772631437726314Humanname , trait , alternate_id
401921886CV2822183single nucleotide variantNM_001039141.3(TRIOBP):c.3129G>T (p.Glu1043Asp)not provided [RCV003433206]uncertain significance223772568537725685Humanname
401905363CV2831439single nucleotide variantNM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV003444431]|not provided [RCV005235718]uncertain significance223775777437757774Human1name
401961216CV2844598single nucleotide variantNM_001039141.3(TRIOBP):c.6599G>A (p.Arg2200Gln)not provided [RCV003480394]uncertain significance223776905137769051Humanname
404977754CV2851307single nucleotide variantNM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV003486277]uncertain significance223775513237755132Human1name
405092881CV3134570single nucleotide variantNM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)Hearing loss, autosomal recessive [RCV004719051]|not provided [RCV003834916]pathogenic223772585137725851Human2name
405106446CV3136122single nucleotide variantNM_001039141.3(TRIOBP):c.3655G>A (p.Gly1219Arg)not provided [RCV003835468]uncertain significance223772621137726211Humanname
405214898CV3143105single nucleotide variantNM_001039141.3(TRIOBP):c.6609G>C (p.Gln2203His)not provided [RCV003846268]uncertain significance223776906137769061Humanname
405082865CV3167151single nucleotide variantNM_001039141.3(TRIOBP):c.6998C>T (p.Thr2333Ile)not provided [RCV003851730]uncertain significance223777266237772662Humanname
405726522CV3235178deletionNM_001039141.3(TRIOBP):c.138_153del (p.Glu47fs)Rare genetic deafness [RCV004018209]|not provided [RCV005103365]pathogenic|likely pathogenic223771044737710462Humanname
405797751CV3347362single nucleotide variantNM_001039141.3(TRIOBP):c.6019C>T (p.Arg2007Cys)Inborn genetic diseases [RCV004476287]uncertain significance223775794437757944Human1name
405869673CV3397863single nucleotide variantNM_001039141.3(TRIOBP):c.6560T>C (p.Leu2187Pro)Meniere disease [RCV004573506]uncertain significance223776816137768161Human1name
405869674CV3397864single nucleotide variantNM_001039141.3(TRIOBP):c.6911G>A (p.Arg2304Gln)Meniere disease [RCV004573507]uncertain significance223777171137771711Human1name
407425071CV3411067single nucleotide variantNM_001039141.3(TRIOBP):c.4378T>G (p.Trp1460Gly)not provided [RCV004588757]uncertain significance223773471437734714Humanname
407426532CV3411381single nucleotide variantNM_001039141.3(TRIOBP):c.5768C>A (p.Ala1923Glu)not provided [RCV004590558]uncertain significance223775769337757693Humanname
407426601CV3411416single nucleotide variantNM_001039141.3(TRIOBP):c.7079G>A (p.Arg2360His)not provided [RCV004590593]uncertain significance223777274337772743Humanname
407454192CV3490771single nucleotide variantNM_001039141.3(TRIOBP):c.5752G>T (p.Ala1918Ser)Inborn genetic diseases [RCV004684886]uncertain significance223775767737757677Human1name
407454194CV3490773single nucleotide variantNM_001039141.3(TRIOBP):c.5383C>T (p.Pro1795Ser)Inborn genetic diseases [RCV004684888]uncertain significance223775488037754880Human1name
407454195CV3490774single nucleotide variantNM_001039141.3(TRIOBP):c.6173G>C (p.Arg2058Pro)Inborn genetic diseases [RCV004684889]uncertain significance223775809837758098Human1name
407454196CV3490775single nucleotide variantNM_001039141.3(TRIOBP):c.5525G>C (p.Cys1842Ser)Inborn genetic diseases [RCV004684890]uncertain significance223775513837755138Human1name
407454197CV3490776single nucleotide variantNM_001039141.3(TRIOBP):c.5902C>T (p.Arg1968Cys)Inborn genetic diseases [RCV004684891]uncertain significance223775782737757827Human1name
408366817CV3500278single nucleotide variantNM_001039141.3(TRIOBP):c.3586A>T (p.Met1196Leu)not provided [RCV004722321]uncertain significance223772614237726142Humanname
408380601CV3501638single nucleotide variantNM_001039141.3(TRIOBP):c.6035C>T (p.Ala2012Val)Inborn genetic diseases [RCV004968603]|not provided [RCV004729166]uncertain significance223775796037757960Human1name
408374254CV3502407single nucleotide variantNM_001039141.3(TRIOBP):c.3770C>T (p.Pro1257Leu)not provided [RCV004725994]uncertain significance223772632637726326Humanname
408377907CV3503164single nucleotide variantNM_001039141.3(TRIOBP):c.4271T>G (p.Leu1424Arg)not provided [RCV004727735]uncertain significance223773460737734607Humanname
408380204CV3511510single nucleotide variantNM_001039141.3(TRIOBP):c.6116G>A (p.Arg2039Gln)TRIOBP-related disorder [RCV004753987]uncertain significance223775804137758041Humanname , trait , alternate_id
408390000CV3519085single nucleotide variantNM_001039141.3(TRIOBP):c.6128G>A (p.Arg2043Gln)not provided [RCV004762394]uncertain significance223775805337758053Humanname
408388587CV3522730single nucleotide variantNM_001039141.3(TRIOBP):c.4952C>T (p.Pro1651Leu)not provided [RCV004769111]uncertain significance223773528837735288Humanname
408389690CV3524737single nucleotide variantNM_001039141.3(TRIOBP):c.3412G>A (p.Asp1138Asn)not provided [RCV004769632]uncertain significance223772596837725968Humanname
408389712CV3524749single nucleotide variantNM_001039141.3(TRIOBP):c.5890C>T (p.Arg1964Cys)Inborn genetic diseases [RCV004968638]|not provided [RCV004769644]uncertain significance223775781537757815Human1name
408392134CV3525114single nucleotide variantNM_001039141.3(TRIOBP):c.3212C>G (p.Pro1071Arg)not provided [RCV004771000]uncertain significance223772576837725768Humanname
408392303CV3528083single nucleotide variantNM_001039141.3(TRIOBP):c.6692G>A (p.Arg2231His)not provided [RCV004775851]uncertain significance223776914437769144Humanname
408393267CV3528408single nucleotide variantNM_001039141.3(TRIOBP):c.4562G>A (p.Gly1521Asp)not provided [RCV004776176]uncertain significance223773489837734898Humanname
596927085CV3532484single nucleotide variantNM_001039141.3(TRIOBP):c.3572C>G (p.Pro1191Arg)not provided [RCV004778582]uncertain significance223772612837726128Humanname
596922250CV3537024single nucleotide variantNM_001039141.3(TRIOBP):c.3257C>G (p.Pro1086Arg)not provided [RCV004786019]uncertain significance223772581337725813Humanname
596929075CV3540774single nucleotide variantNM_001039141.3(TRIOBP):c.3671C>T (p.Pro1224Leu)not provided [RCV004795102]uncertain significance223772622737726227Humanname
596929082CV3540781single nucleotide variantNM_001039141.3(TRIOBP):c.3875A>G (p.Gln1292Arg)not provided [RCV004795109]uncertain significance223772643137726431Humanname
596943114CV3542764single nucleotide variantNM_001039141.3(TRIOBP):c.4657A>G (p.Arg1553Gly)not provided [RCV004798348]uncertain significance223773499337734993Humanname
596948043CV3547635single nucleotide variantNM_001039141.3(TRIOBP):c.5930G>A (p.Arg1977Gln)not provided [RCV004811940]uncertain significance223775785537757855Humanname
597625232CV3614675single nucleotide variantNM_001039141.3(TRIOBP):c.5872C>T (p.Arg1958Trp)Inborn genetic diseases [RCV004964439]uncertain significance223775779737757797Human1name
597625234CV3614676single nucleotide variantNM_001039141.3(TRIOBP):c.5656G>A (p.Val1886Ile)Inborn genetic diseases [RCV004964440]uncertain significance223775562837755628Human1name
597625236CV3614677single nucleotide variantNM_001039141.3(TRIOBP):c.5800C>T (p.Arg1934Trp)Inborn genetic diseases [RCV004964441]uncertain significance223775772537757725Human1name
597625237CV3614678single nucleotide variantNM_001039141.3(TRIOBP):c.6203T>C (p.Leu2068Pro)Inborn genetic diseases [RCV004964442]uncertain significance223775812837758128Human1name
597625239CV3614679single nucleotide variantNM_001039141.3(TRIOBP):c.5998G>A (p.Val2000Met)Inborn genetic diseases [RCV004964443]|not provided [RCV005061619]uncertain significance223775792337757923Human1name
597625240CV3614680single nucleotide variantNM_001039141.3(TRIOBP):c.5364G>C (p.Leu1788Phe)Inborn genetic diseases [RCV004964444]uncertain significance223775181337751813Human1name
597717413CV3733340single nucleotide variantNM_001039141.3(TRIOBP):c.4727G>A (p.Arg1576His)not provided [RCV005052530]uncertain significance223773506337735063Humanname
597724887CV3734567single nucleotide variantNM_001039141.3(TRIOBP):c.3100C>T (p.Gln1034Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053874]pathogenic223772565637725656Human1name
597724891CV3734568single nucleotide variantNM_001039141.3(TRIOBP):c.4745G>A (p.Trp1582Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053875]pathogenic223773508137735081Human1name
597843390CV3735904single nucleotide variantNM_001039141.3(TRIOBP):c.4888C>A (p.Pro1630Thr)not provided [RCV005065253]uncertain significance223773522437735224Humanname
597893965CV3744023single nucleotide variantNM_001039141.3(TRIOBP):c.3287A>G (p.His1096Arg)not provided [RCV005071493]uncertain significance223772584337725843Humanname
597837509CV3758047single nucleotide variantNM_001039141.3(TRIOBP):c.5267G>A (p.Arg1756Gln)not provided [RCV005085881]uncertain significance223774097737740977Humanname
597968936CV3761259single nucleotide variantNM_001039141.3(TRIOBP):c.4699C>T (p.Arg1567Trp)not provided [RCV005083646]uncertain significance223773503537735035Humanname
597972579CV3790395single nucleotide variantNM_001039141.3(TRIOBP):c.3203G>A (p.Arg1068Gln)not provided [RCV005142818]uncertain significance223772575937725759Humanname
597961348CV3794898single nucleotide variantNM_001039141.3(TRIOBP):c.6043A>G (p.Thr2015Ala)not provided [RCV005138803]uncertain significance223775796837757968Humanname
597961757CV3795251single nucleotide variantNM_001039141.3(TRIOBP):c.3910C>G (p.Arg1304Gly)not provided [RCV005138943]uncertain significance223772646637726466Humanname
597845115CV3880353single nucleotide variantNM_001039141.3(TRIOBP):c.3800G>A (p.Arg1267Gln)not provided [RCV005227241]uncertain significance223772635637726356Humanname
597846255CV3880602single nucleotide variantNM_001039141.3(TRIOBP):c.7040G>A (p.Arg2347His)not provided [RCV005227490]uncertain significance223777270437772704Humanname
598126778CV3882234single nucleotide variantNM_001039141.3(TRIOBP):c.6862G>A (p.Val2288Ile)not provided [RCV005233785]uncertain significance223777166237771662Humanname
598123927CV3885124single nucleotide variantNM_001039141.3(TRIOBP):c.3215G>A (p.Arg1072Gln)not specified [RCV005238736]uncertain significance223772577137725771Humanname
598126111CV3886078single nucleotide variantNM_001039141.3(TRIOBP):c.3821C>G (p.Ala1274Gly)not provided [RCV005241881]uncertain significance223772637737726377Humanname
598127285CV3888109single nucleotide variantNM_001039141.3(TRIOBP):c.5594A>G (p.Tyr1865Cys)not provided [RCV005242795]uncertain significance223775556637755566Humanname
12858842CV389255single nucleotide variantNM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)Autosomal recessive nonsyndromic hearing loss 28 [RCV000454135]pathogenic223772561137725611Human1name
598199668CV3892575single nucleotide variantNM_001039141.3(TRIOBP):c.3079T>C (p.Ser1027Pro)not provided [RCV005254408]uncertain significance223772563537725635Humanname
598200116CV3892623single nucleotide variantNM_001039141.3(TRIOBP):c.4055G>A (p.Ser1352Asn)not provided [RCV005254456]uncertain significance223773340537733405Humanname
598237411CV3893413single nucleotide variantNM_001039141.3(TRIOBP):c.4432G>C (p.Gly1478Arg)not provided [RCV005256146]uncertain significance223773476837734768Humanname
598236130CV3893502single nucleotide variantNM_001039141.3(TRIOBP):c.6677G>A (p.Arg2226His)not provided [RCV005256235]uncertain significance223776912937769129Humanname
598204676CV3896706duplicationNM_001039141.3(TRIOBP):c.4640dup (p.Tyr1547Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV005356901]likely pathogenic223773497537734976Human1name
598236116CV3931872single nucleotide variantNM_001039141.3(TRIOBP):c.5338T>G (p.Phe1780Val)Inborn genetic diseases [RCV005295965]uncertain significance223775178737751787Human1name
598188638CV4008609single nucleotide variantNM_001039141.3(TRIOBP):c.3310G>A (p.Glu1104Lys)Autosomal recessive nonsyndromic hearing loss 28 [RCV005396108]uncertain significance223772586637725866Human1name
598188648CV4008610single nucleotide variantNM_001039141.3(TRIOBP):c.6416G>A (p.Arg2139His)Autosomal recessive nonsyndromic hearing loss 28 [RCV005396109]uncertain significance223776576137765761Human1name
616937934CV4014777single nucleotide variantNM_001039141.3(TRIOBP):c.5791G>C (p.Gly1931Arg)not provided [RCV005411793]uncertain significance223775771637757716Humanname
616938983CV4015311single nucleotide variantNM_001039141.3(TRIOBP):c.7046C>T (p.Ala2349Val)not provided [RCV005412821]uncertain significance223777271037772710Humanname
617153579CV4016656single nucleotide variantNM_001039141.3(TRIOBP):c.3022G>A (p.Glu1008Lys)not provided [RCV005415753]uncertain significance223772557837725578Humanname
617150413CV4017456single nucleotide variantNM_001039141.3(TRIOBP):c.6017C>T (p.Pro2006Leu)not provided [RCV005417114]uncertain significance223775794237757942Humanname
617149389CV4017517single nucleotide variantNM_001039141.3(TRIOBP):c.4610T>C (p.Val1537Ala)not provided [RCV005417175]uncertain significance223773494637734946Humanname
617149504CV4018787single nucleotide variantNM_001039141.3(TRIOBP):c.3302C>G (p.Pro1101Arg)not provided [RCV005422699]uncertain significance223772585837725858Humanname
617150356CV4019049single nucleotide variantNM_001039141.3(TRIOBP):c.3274T>A (p.Ser1092Thr)not provided [RCV005423457]uncertain significance223772583037725830Humanname
12913037CV422380single nucleotide variantNM_001039141.3(TRIOBP):c.6562C>T (p.Arg2188Trp)not provided [RCV000493308]uncertain significance223776816337768163Humanname
13212132CV426376single nucleotide variantNM_001039141.3(TRIOBP):c.3775G>A (p.Gly1259Arg)not provided [RCV000498383]uncertain significance223772633137726331Humanname
13504458CV446412single nucleotide variantNM_001039141.3(TRIOBP):c.3652A>G (p.Ile1218Val)not provided [RCV000519606]uncertain significance223772620837726208Humanname
13487626CV446413single nucleotide variantNM_001039141.3(TRIOBP):c.6818G>A (p.Arg2273His)not provided [RCV000523295]uncertain significance223776934437769344Humanname
13521236CV495883single nucleotide variantNM_001039141.3(TRIOBP):c.4130G>A (p.Trp1377Ter)not provided [RCV000599292]likely pathogenic223773446637734466Humanname
13526197CV497350single nucleotide variantNM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His)not provided [RCV001574700]uncertain significance223776930237769302Humanname
13530328CV497542single nucleotide variantNM_001039141.3(TRIOBP):c.4103G>A (p.Arg1368Gln)not provided [RCV003456418]|not specified [RCV000600658]likely benign223773443937734439Humanname
13535177CV497546single nucleotide variantNM_001039141.3(TRIOBP):c.5869C>T (p.Gln1957Ter)not provided [RCV004773036]|not specified [RCV000602159]uncertain significance223775779437757794Humanname
13531889CV497765single nucleotide variantNM_001039141.3(TRIOBP):c.4484A>T (p.Glu1495Val)not provided [RCV000833260]|not specified [RCV000606623]benign223773482037734820Humanname
13535049CV497766single nucleotide variantNM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys)TRIOBP-related disorder [RCV003945461]|not provided [RCV000923126]|not specified [RCV000607520]benign|likely benign223773506237735062Human1name , alternate_id
13531578CV497767single nucleotide variantNM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001329528]|Hearing impairment [RCV001375312]|Meniere disease [RCV004568320]|not provided [RCV000760513]|not specified [RCV000601096]pathogenic|likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records223773535037735350Human7name
13531578CV497767single nucleotide variantNM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001329528]|Hearing impairment [RCV001375312]|Meniere disease [RCV004568320]|not provided [RCV000760513]|not specified [RCV000601096]pathogenic|likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records223773535037735351Human7name
13527022CV497768single nucleotide variantNM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)not provided [RCV001358179]|not specified [RCV000604907]likely benign|uncertain significance223777267437772674Humanname
13540343CV508147single nucleotide variantNM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838636]|not provided [RCV002066760]|not specified [RCV000614567]benign223772611537726115Human4name
13531700CV512522single nucleotide variantNM_001039141.3(TRIOBP):c.4933G>A (p.Ala1645Thr)Inborn genetic diseases [RCV000623554]uncertain significance223773526937735269Human1name
8606675CV53022single nucleotide variantNM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp)TRIOBP-related disorder [RCV003924909]|not provided [RCV001546029]|not specified [RCV000036820]likely benign223773443537734435Human1name , alternate_id
8606676CV53023single nucleotide variantNM_001039141.3(TRIOBP):c.4116G>T (p.Glu1372Asp)not provided [RCV002054611]|not specified [RCV000036821]benign223773445237734452Humanname
8606677CV53024single nucleotide variantNM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg)Autosomal recessive nonsyndromic hearing loss 28 [RCV001838536]|not provided [RCV002054612]|not specified [RCV000036822]benign223773446537734465Human1name
8606678CV53025single nucleotide variantNM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu)not provided [RCV000840103]|not specified [RCV000036823]benign|likely benign223773451437734514Humanname
8606679CV53026single nucleotide variantNM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly)TRIOBP-related disorder [RCV003924910]|not provided [RCV000963406]|not specified [RCV000036824]benign|likely benign223773466937734669Human1name , alternate_id
8606681CV53028single nucleotide variantNM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe)Inborn genetic diseases [RCV000622523]|TRIOBP-related disorder [RCV003904907]|not provided [RCV000963732]|not specified [RCV000036826]likely benign|uncertain significance223774093437740934Human2name , alternate_id
8606685CV53032single nucleotide variantNM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser)Inborn genetic diseases [RCV003162320]|not provided [RCV002513448]|not specified [RCV000036830]likely benign|conflicting interpretations of pathogenicity|uncertain significance223775793237757932Human1name
8606687CV53034single nucleotide variantNM_001039141.3(TRIOBP):c.6272G>C (p.Ser2091Thr)not provided [RCV000923562]|not specified [RCV000036832]benign223775921237759212Humanname
8606689CV53036single nucleotide variantNM_001039141.3(TRIOBP):c.6899T>C (p.Val2300Ala)not provided [RCV000840104]|not specified [RCV000036834]benign|likely benign223777169937771699Humanname
13834054CV585294single nucleotide variantNM_001039141.3(TRIOBP):c.3892C>T (p.Arg1298Cys)not provided [RCV000729470]uncertain significance223772644837726448Humanname
13834871CV586121single nucleotide variantNM_001039141.3(TRIOBP):c.6123T>A (p.Asn2041Lys)Inborn genetic diseases [RCV003303211]|not provided [RCV000730493]uncertain significance223775804837758048Human1name
14393960CV610172single nucleotide variantNM_001039141.3(TRIOBP):c.3386C>T (p.Ala1129Val)not provided [RCV000756807]uncertain significance223772594237725942Humanname
14399320CV614610single nucleotide variantNM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp)Autosomal recessive nonsyndromic hearing loss 28 [RCV000768434]uncertain significance223776814937768149Human1name
14689869CV615833single nucleotide variantNM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000770881]pathogenic223772608037726080Human1name
14689866CV615834single nucleotide variantNM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV000770880]pathogenic223773462737734627Human1name
14703508CV654944single nucleotide variantNM_001039141.3(TRIOBP):c.6283T>C (p.Ser2095Pro)Inborn genetic diseases [RCV004962870]|TRIOBP-related disorder [RCV003955535]|not specified [RCV000825258]likely benign|uncertain significance223775922337759223Human2name , alternate_id
14705236CV654945single nucleotide variantNM_001039141.3(TRIOBP):c.6308C>T (p.Pro2103Leu)TRIOBP-related disorder [RCV003396463]|not provided [RCV001759632]|not specified [RCV000826064]uncertain significance223775924837759248Human1name , alternate_id
14705235CV654949single nucleotide variantNM_001039141.3(TRIOBP):c.6775C>T (p.Arg2259Cys)not provided [RCV001858415]|not specified [RCV000826063]uncertain significance223776930137769301Humanname
14705231CV654951single nucleotide variantNM_001039141.3(TRIOBP):c.6830G>A (p.Arg2277Gln)not specified [RCV000826062]uncertain significance223776935637769356Humanname
15178482CV742895single nucleotide variantNM_001039141.3(TRIOBP):c.4510A>G (p.Arg1504Gly)TRIOBP-related disorder [RCV003950670]|not provided [RCV000906887]benign|likely benign223773484637734846Human1name , alternate_id
15107756CV758085single nucleotide variantNM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala)Autosomal recessive nonsyndromic hearing loss 28 [RCV001285606]|TRIOBP-related disorder [RCV003933046]|not provided [RCV000916017]likely benign|uncertain significance223773512837735128Human1name , alternate_id
21068434CV793861single nucleotide variantNM_001039141.3(TRIOBP):c.4298C>T (p.Pro1433Leu)not provided [RCV000993352]uncertain significance223773463437734634Humanname
21068438CV793862single nucleotide variantNM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp)Autosomal recessive nonsyndromic hearing loss 28 [RCV002481757]|Inborn genetic diseases [RCV005286263]|not provided [RCV000993354]uncertain significance223775794737757947Human2name
21406009CV800189single nucleotide variantNM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg)Autosomal recessive nonsyndromic hearing loss 28 [RCV001001702]|not provided [RCV001644891]benign223772564537725645Human1name
38458951CV918464single nucleotide variantNM_001039141.3(TRIOBP):c.4429T>C (p.Trp1477Arg)not specified [RCV001195470]likely benign223773476537734765Humanname
38459280CV918465single nucleotide variantNM_001039141.3(TRIOBP):c.5193G>C (p.Lys1731Asn)not specified [RCV001195637]uncertain significance223774090337740903Humanname
38459283CV918466single nucleotide variantNM_001039141.3(TRIOBP):c.5198C>T (p.Pro1733Leu)not provided [RCV001760156]|not specified [RCV001195638]uncertain significance223774090837740908Humanname
38459285CV918468single nucleotide variantNM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly)not provided [RCV001863092]|not specified [RCV001195639]uncertain significance223775781537757815Humanname
38459271CV918469single nucleotide variantNM_001039141.3(TRIOBP):c.5929C>T (p.Arg1977Trp)not specified [RCV001195634]uncertain significance223775785437757854Humanname
38462746CV919952single nucleotide variantNM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)Autosomal recessive nonsyndromic hearing loss 28 [RCV001196643]|not provided [RCV001587220]pathogenic|likely pathogenic223772562937725629Human1name
150417779CV1199356insertionNM_001039141.3(TRIOBP):c.5322+5035_5322+5036insTnot provided [RCV001576451]likely benign223774606737746068Humanname
150446918CV1250738microsatelliteNM_001039141.3(TRIOBP):c.1614CTC[1] (p.Ser540del)not provided [RCV001667243]benign223772416937724171Humanname
126912062CV1038838deletionNM_001039141.3(TRIOBP):c.1866_1867del (p.Asp622fs)not provided [RCV001356098]likely pathogenic223772442137724422Humanname
150492136CV1210480deletionNM_001039141.3(TRIOBP):c.2609_2619del (p.Gln870fs)not provided [RCV001592762]likely pathogenic223772516437725174Humanname
151790719CV1509132microsatelliteNM_001039141.3(TRIOBP):c.3802GAG[1] (p.Glu1269del)not provided [RCV001876488]uncertain significance223772635737726359Humanname
596928270CV3541412microsatelliteNM_001039141.3(TRIOBP):c.2355_2356del (p.Arg785fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV004797284]pathogenic223772490937724910Humanname
597724838CV3734557deletionNM_001039141.3(TRIOBP):c.1101_1105del (p.Phe368fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053864]pathogenic223772365437723658Human1name
597724866CV3734561duplicationNM_001039141.3(TRIOBP):c.2147_2148dup (p.Gln717fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005053868]pathogenic223772470237724703Human1name
8556265CV16535deletionNM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV000001561]pathogenic223772575837725759Human1name
11632599CV270662microsatelliteNM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV005355598]|not provided [RCV000267345]likely pathogenic|conflicting interpretations of pathogenicity223772640737726408Humanname
13795721CV553273deletionNM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)Autosomal recessive nonsyndromic hearing loss 28 [RCV000681528]|Hearing loss, autosomal recessive [RCV001291492]pathogenic|likely pathogenic223772618937726201Human3name
13838202CV589500deletionNM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs)not provided [RCV000734826]pathogenic223772603337726079Humanname
150336512CV1173492insertionNM_001039141.3(TRIOBP):c.5322+5038_5322+5039insGCCGTCCCGCCGCCTnot provided [RCV001541022]likely benign223774607037746071Humanname
10052976CV195608deletionNM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)Autosomal recessive nonsyndromic hearing loss 28 [RCV000990437]|not provided [RCV001610498]|not specified [RCV000179804]benign223772374837723750Human1name