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


184 records found for search term Homer2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405007196CV2926695single nucleotide variantNM_004839.4(HOMER2):c.6-8T>Cnot provided [RCV003576431]likely benign158289284982892849Humanname
13535322CV505429single nucleotide variantNM_004839.4(HOMER2):c.6-4G>Cnot provided [RCV000992157]|not specified [RCV000602260]benign158289284582892845Humanname
150511963CV1212881single nucleotide variantNM_004839.4(HOMER2):c.5+94G>Tnot provided [RCV001598113]benign158295243782952437Humanname
150472508CV1217192single nucleotide variantNM_004839.4(HOMER2):c.6-13T>Cnot provided [RCV001615487]benign158289285482892854Humanname
150460512CV1253118single nucleotide variantNM_004839.4(HOMER2):c.5+62C>Gnot provided [RCV001669447]benign158295246982952469Humanname
150531414CV1310847single nucleotide variantNM_004839.4(HOMER2):c.*172C>Tnot provided [RCV001776581]likely benign158284954382849543Humanname
405037658CV3130923single nucleotide variantNM_004839.4(HOMER2):c.6-19G>Anot provided [RCV003831141]likely benign158289286082892860Humanname
597925298CV3748584single nucleotide variantNM_004839.4(HOMER2):c.5+15G>Anot provided [RCV005075232]likely benign158295251682952516Humanname
150437447CV1249870single nucleotide variantNM_004839.4(HOMER2):c.5+145G>Anot provided [RCV001665784]benign158295238682952386Humanname
156017464CV2121488single nucleotide variantNM_004839.4(HOMER2):c.494+4A>Gnot provided [RCV002948609]uncertain significance158285902582859025Humanname
156096792CV2152196single nucleotide variantNM_004839.4(HOMER2):c.162+4C>Tnot provided [RCV003020897]uncertain significance158289268182892681Humanname
405238446CV2891404single nucleotide variantNM_004839.4(HOMER2):c.163-8T>Gnot provided [RCV003556866]likely benign158287541282875412Humanname
405243403CV3071855single nucleotide variantNM_004839.4(HOMER2):c.387+7C>Tnot provided [RCV003737791]benign158286416082864160Humanname
405237693CV3077726single nucleotide variantNM_004839.4(HOMER2):c.762+2T>Anot provided [RCV003736213]likely benign158285214082852140Humanname
405286624CV3192863single nucleotide variantNM_004839.4(HOMER2):c.843+9G>AHOMER2-related disorder [RCV003981581]likely benign158285114282851142Humanname , trait , alternate_id
597940530CV3757256duplicationNM_004839.4(HOMER2):c.763-8dupnot provided [RCV005077441]benign158285123882851239Humanname
13539254CV505215single nucleotide variantNM_004839.4(HOMER2):c.651+9G>Anot provided [RCV002063046]|not specified [RCV000613026]benign158285463582854635Humanname
13537979CV505851single nucleotide variantNM_004839.4(HOMER2):c.387+6A>THOMER2-related disorder [RCV003917908]|not provided [RCV000992156]|not specified [RCV000611167]benign158286416182864161Human1name , trait , alternate_id
13834401CV585647deletionNM_004839.4(HOMER2):c.763-8delnot provided [RCV000729910]conflicting interpretations of pathogenicity|uncertain significance158285123982851239Humanname
150330788CV1172779single nucleotide variantNM_004839.4(HOMER2):c.163-21C>Tnot provided [RCV001538279]benign158287542582875425Humanname
150431030CV1235311single nucleotide variantNM_004839.4(HOMER2):c.294+67G>Anot provided [RCV001641681]benign158287520682875206Humanname
150464881CV1252787single nucleotide variantNM_004839.4(HOMER2):c.388-25G>AHOMER2-related disorder [RCV003941064]|not provided [RCV001670111]benign158285916082859160Human1name , trait , alternate_id
150506737CV1258040single nucleotide variantNM_004839.4(HOMER2):c.652-32G>Anot provided [RCV001678257]benign158285228482852284Humanname
150444992CV1261127single nucleotide variantNM_004839.4(HOMER2):c.388-61A>Gnot provided [RCV001679801]benign158285919682859196Humanname
150463755CV1263852single nucleotide variantNM_004839.4(HOMER2):c.651+28G>Cnot provided [RCV001682553]benign158285461682854616Humanname
150542939CV1306660single nucleotide variantNM_004839.4(HOMER2):c.762+27C>Gnot provided [RCV001769724]likely benign158285211582852115Humanname
150542443CV1307769single nucleotide variantNM_004839.4(HOMER2):c.762+35G>Anot provided [RCV001769544]likely benign158285210782852107Humanname
150539398CV1308758single nucleotide variantNM_004839.4(HOMER2):c.495-14T>Anot provided [RCV001766262]benign|likely benign158285481482854814Humanname
150543491CV1308998deletionNM_004839.4(HOMER2):c.387+41delnot provided [RCV001769911]likely benign158286412682864126Humanname
151750508CV1335554single nucleotide variantNM_004839.4(HOMER2):c.844-43C>Anot provided [RCV001847396]likely benign158284994682849946Humanname
152054067CV1553737single nucleotide variantNM_004839.4(HOMER2):c.495-13C>Anot provided [RCV002146025]likely benign158285481382854813Humanname
152113914CV1573575single nucleotide variantNM_004839.4(HOMER2):c.495-20C>Tnot provided [RCV002215871]benign158285482082854820Humanname
152166796CV1597226single nucleotide variantNM_004839.4(HOMER2):c.495-19G>Anot provided [RCV002204519]likely benign158285481982854819Humanname
152064427CV1612275single nucleotide variantNM_004839.4(HOMER2):c.295-15A>Gnot provided [RCV002128770]likely benign158286427482864274Humanname
152173281CV1637739single nucleotide variantNM_004839.4(HOMER2):c.651+19G>Cnot provided [RCV002162751]likely benign158285462582854625Humanname
153349953CV1693656single nucleotide variantNM_004839.4(HOMER2):c.388-17C>Gnot provided [RCV002276389]likely benign158285915282859152Humanname
156222872CV2005807single nucleotide variantNM_004839.4(HOMER2):c.388-16C>Tnot provided [RCV002667293]likely benign158285915182859151Humanname
405236153CV3038031single nucleotide variantNM_004839.4(HOMER2):c.163-12G>Tnot provided [RCV003712392]likely benign158287541682875416Humanname
405176276CV3119292single nucleotide variantNM_004839.4(HOMER2):c.762+17C>Tnot provided [RCV003819577]|not specified [RCV004801408]likely benign158285212582852125Humanname
405229840CV3153576single nucleotide variantNM_004839.4(HOMER2):c.294+19C>Tnot provided [RCV003848641]likely benign158287525482875254Humanname
405082340CV3166812single nucleotide variantNM_004839.4(HOMER2):c.652-18G>Anot provided [RCV003851586]likely benign158285227082852270Humanname
404989673CV3179995single nucleotide variantNM_004839.4(HOMER2):c.495-16C>Tnot provided [RCV003881473]likely benign158285481682854816Humanname
596942185CV3544010single nucleotide variantNM_004839.4(HOMER2):c.295-11T>Cnot specified [RCV004800000]likely benign158286427082864270Humanname
596943626CV3544311single nucleotide variantNM_004839.4(HOMER2):c.763-15A>Tnot specified [RCV004800791]likely benign158285124682851246Humanname
597691858CV3679506single nucleotide variantNM_004839.4(HOMER2):c.388-12T>CInborn genetic diseases [RCV004985894]uncertain significance158285914782859147Human1name
597936572CV3759616single nucleotide variantNM_004839.4(HOMER2):c.495-15G>Anot provided [RCV005076736]likely benign158285481582854815Humanname
597860212CV3826012single nucleotide variantNM_004839.4(HOMER2):c.651+14A>Gnot provided [RCV005174910]likely benign158285463082854630Humanname
616933945CV4011918single nucleotide variantNM_004839.4(HOMER2):c.762+18G>Anot specified [RCV005408467]likely benign158285212482852124Humanname
14745484CV668045single nucleotide variantNM_004839.4(HOMER2):c.844-47C>Tnot provided [RCV000843423]benign158284995082849950Humanname
150334227CV1172778single nucleotide variantNM_004839.4(HOMER2):c.763-245T>Cnot provided [RCV001539892]benign158285147682851476Humanname
150503743CV1212544duplicationNM_004839.4(HOMER2):c.388-179dupnot provided [RCV001595419]benign158285930482859305Humanname
150516207CV1216478single nucleotide variantNM_004839.4(HOMER2):c.762+312C>Tnot provided [RCV001608669]benign158285183082851830Humanname
150506852CV1226447single nucleotide variantNM_004839.4(HOMER2):c.294+177G>Tnot provided [RCV001635815]benign158287509682875096Humanname
150472520CV1252258single nucleotide variantNM_004839.4(HOMER2):c.162+295A>Gnot provided [RCV001671459]benign158289239082892390Humanname
150453928CV1260584single nucleotide variantNM_004839.4(HOMER2):c.162+142C>Tnot provided [RCV001681077]benign158289254382892543Humanname
150454454CV1266009single nucleotide variantNM_004839.4(HOMER2):c.494+219A>Tnot provided [RCV001692586]benign158285881082858810Humanname
150467299CV1277547single nucleotide variantNM_004839.4(HOMER2):c.294+319T>Cnot provided [RCV001710842]benign158287495482874954Humanname
150437983CV1286634single nucleotide variantNM_004839.4(HOMER2):c.651+233T>Cnot provided [RCV001724713]benign158285441182854411Humanname
150534651CV1307897single nucleotide variantNM_004839.4(HOMER2):c.762+124G>Anot provided [RCV001757619]likely benign158285201882852018Humanname
155994294CV2095658deletionNM_004839.4(HOMER2):c.6-9_6-8delnot provided [RCV002908308]likely benign158289284982892850Humanname
405166414CV2957343deletionNM_004839.4(HOMER2):c.5+7_5+34delnot provided [RCV003675022]uncertain significance158295249782952524Humanname
151789729CV1394284deletionNM_004839.4(HOMER2):c.388-8_388-3delnot provided [RCV002046985]uncertain significance158285913882859143Humanname
150532520CV1306796single nucleotide variantNM_004839.4(HOMER2):c.93G>A (p.Ala31=)not provided [RCV001757794]likely benign158289275482892754Humanname
156309090CV1924963single nucleotide variantNM_004839.4(HOMER2):c.66G>A (p.Lys22=)not provided [RCV002629653]likely benign158289278182892781Humanname
13515796CV491477single nucleotide variantNM_004839.4(HOMER2):c.33G>A (p.Ala11=)not provided [RCV000594734]conflicting interpretations of pathogenicity|uncertain significance158289281482892814Humanname
152034145CV1621484single nucleotide variantNM_004839.4(HOMER2):c.153C>T (p.Asp51=)not provided [RCV002205297]likely benign158289269482892694Humanname
41406528CV982927single nucleotide variantNM_004839.4(HOMER2):c.234C>T (p.Ala78=)HOMER2-related disorder [RCV004753263]|not provided [RCV001751549]|not specified [RCV001288632]benign|likely benign158287533382875333Human1name , trait , alternate_id
126912936CV1038364single nucleotide variantNM_004839.4(HOMER2):c.89A>G (p.Gln30Arg)not provided [RCV001356917]likely benign|uncertain significance158289275882892758Humanname
150550302CV1309184single nucleotide variantNM_004839.4(HOMER2):c.969C>T (p.Asp323=)not provided [RCV001752865]likely benign158284977882849778Humanname
151727001CV1408070single nucleotide variantNM_004839.4(HOMER2):c.80C>T (p.Ala27Val)not provided [RCV001891851]uncertain significance158289276782892767Humanname
151847757CV1461968single nucleotide variantNM_004839.4(HOMER2):c.29G>A (p.Arg10Gln)not provided [RCV001936941]likely benign|uncertain significance158289281882892818Humanname
152109317CV1563857single nucleotide variantNM_004839.4(HOMER2):c.525G>A (p.Glu175=)not provided [RCV002174129]likely benign158285477082854770Humanname
152069149CV1570806single nucleotide variantNM_004839.4(HOMER2):c.402C>T (p.Asn134=)not provided [RCV002129373]likely benign158285912182859121Humanname
156081056CV1883578single nucleotide variantNM_004839.4(HOMER2):c.432C>T (p.Ala144=)not provided [RCV003079868]likely benign158285909182859091Humanname
156201691CV1925637single nucleotide variantNM_004839.4(HOMER2):c.594G>A (p.Glu198=)not provided [RCV002643654]benign158285470182854701Humanname
156381376CV1994767single nucleotide variantNM_004839.4(HOMER2):c.351G>A (p.Thr117=)not provided [RCV002653684]likely benign158286420382864203Humanname
329381001CV2440439single nucleotide variantNM_004839.4(HOMER2):c.77C>T (p.Pro26Leu)Inborn genetic diseases [RCV003175509]|not provided [RCV005101260]uncertain significance158289277082892770Human1name
405092582CV2859410single nucleotide variantNM_004839.4(HOMER2):c.41T>A (p.Phe14Tyr)not provided [RCV003549887]uncertain significance158289280682892806Humanname
405178190CV2861206single nucleotide variantNM_004839.4(HOMER2):c.915A>G (p.Lys305=)not provided [RCV003542949]likely benign158284983282849832Humanname
405178561CV2913084single nucleotide variantNM_004839.4(HOMER2):c.711G>A (p.Gln237=)not provided [RCV003563754]likely benign158285219382852193Humanname
405208890CV3065541single nucleotide variantNM_004839.4(HOMER2):c.55A>G (p.Asn19Asp)not provided [RCV003731705]uncertain significance158289279282892792Humanname
404993883CV3132525single nucleotide variantNM_004839.4(HOMER2):c.591G>A (p.Val197=)not provided [RCV003827464]likely benign158285470482854704Humanname
405284069CV3213564single nucleotide variantNM_004839.4(HOMER2):c.732G>A (p.Glu244=)HOMER2-related disorder [RCV003922138]likely benign158285217282852172Humanname , trait , alternate_id
405271601CV3219086single nucleotide variantNM_004839.4(HOMER2):c.489G>A (p.Thr163=)HOMER2-related disorder [RCV003971794]likely benign158285903482859034Humanname , trait , alternate_id
405695880CV3226688single nucleotide variantNM_004839.4(HOMER2):c.504C>T (p.Asn168=)not provided [RCV003993081]likely benign158285479182854791Humanname
596946569CV3548393single nucleotide variantNM_004839.4(HOMER2):c.795C>T (p.Ile265=)not provided [RCV004810219]likely benign158285119982851199Humanname
597855563CV3738179single nucleotide variantNM_004839.4(HOMER2):c.846G>A (p.Ala282=)not provided [RCV005066762]uncertain significance158284990182849901Humanname
597957921CV3754819single nucleotide variantNM_004839.4(HOMER2):c.522C>T (p.Ile174=)not provided [RCV005080669]likely benign158285477382854773Humanname
13516620CV492438single nucleotide variantNM_004839.4(HOMER2):c.363C>T (p.Ile121=)HOMER2-related disorder [RCV003952988]|not provided [RCV001696964]|not specified [RCV000595756]benign|likely benign158286419182864191Human1name , trait , alternate_id
13530359CV505224single nucleotide variantNM_004839.4(HOMER2):c.393C>T (p.Ser131=)not specified [RCV000600670]likely benign158285913082859130Humanname
13528915CV505420single nucleotide variantNM_004839.4(HOMER2):c.819C>T (p.Cys273=)HOMER2-related disorder [RCV003917909]|not provided [RCV000992158]|not specified [RCV000600162]benign158285117582851175Human1name , trait , alternate_id
13537105CV505844single nucleotide variantNM_004839.4(HOMER2):c.981C>T (p.Asp327=)not provided [RCV000992154]|not specified [RCV000609934]benign158284976682849766Humanname
126743334CV1021371single nucleotide variantNM_004839.4(HOMER2):c.130A>G (p.Ser44Gly)Autosomal dominant nonsyndromic hearing loss 68 [RCV001336747]uncertain significance158289271782892717Human1name
156435199CV1940638single nucleotide variantNM_004839.4(HOMER2):c.100G>A (p.Val34Ile)not provided [RCV003104747]uncertain significance158289274782892747Humanname
156415404CV1958392single nucleotide variantNM_004839.4(HOMER2):c.214C>A (p.Gln72Lys)Inborn genetic diseases [RCV004064515]|not provided [RCV002589149]likely benign|uncertain significance158287535382875353Human1name
156188827CV1997949single nucleotide variantNM_004839.4(HOMER2):c.1023C>T (p.Thr341=)not provided [RCV002643251]likely benign158284972482849724Humanname
156243447CV2148871single nucleotide variantNM_004839.4(HOMER2):c.188C>A (p.Pro63Gln)not provided [RCV003008184]uncertain significance158287537982875379Humanname
404987503CV2852560single nucleotide variantNM_004839.4(HOMER2):c.107A>G (p.Tyr36Cys)not specified [RCV003489772]uncertain significance158289274082892740Humanname
597691903CV3679511single nucleotide variantNM_004839.4(HOMER2):c.245C>T (p.Ala82Val)Inborn genetic diseases [RCV004985899]uncertain significance158287532282875322Human1name
597691906CV3679512single nucleotide variantNM_004839.4(HOMER2):c.169A>C (p.Ile57Leu)Inborn genetic diseases [RCV004985900]uncertain significance158287539882875398Human1name
597691915CV3679513single nucleotide variantNM_004839.4(HOMER2):c.200T>A (p.Phe67Tyr)Inborn genetic diseases [RCV004985901]uncertain significance158287536782875367Human1name
597914252CV3740613single nucleotide variantNM_004839.4(HOMER2):c.1020C>T (p.Gly340=)not provided [RCV005073950]uncertain significance158284972782849727Humanname
597914564CV3740648single nucleotide variantNM_004839.4(HOMER2):c.136C>T (p.Arg46Trp)not provided [RCV005073985]uncertain significance158289271182892711Humanname
597846418CV3753040single nucleotide variantNM_004839.4(HOMER2):c.154G>A (p.Gly52Arg)not provided [RCV005087265]uncertain significance158289269382892693Humanname
597926113CV3840648single nucleotide variantNM_004839.4(HOMER2):c.134A>G (p.Tyr45Cys)not provided [RCV005185119]uncertain significance158289271382892713Humanname
598191137CV3975542single nucleotide variantNM_004839.4(HOMER2):c.170T>C (p.Ile57Thr)Inborn genetic diseases [RCV005354238]uncertain significance158287539782875397Human1name
598191147CV3975546single nucleotide variantNM_004839.4(HOMER2):c.137G>A (p.Arg46Gln)Inborn genetic diseases [RCV005354240]uncertain significance158289271082892710Human1name
13529275CV505843single nucleotide variantNM_004839.4(HOMER2):c.1023C>G (p.Thr341=)HOMER2-related disorder [RCV003962794]|not provided [RCV001698087]benign|likely benign158284972482849724Human1name , trait , alternate_id
14705796CV656312single nucleotide variantNM_004839.4(HOMER2):c.181A>G (p.Ile61Val)HOMER2-related disorder [RCV003928296]|Inborn genetic diseases [RCV002536081]|not provided [RCV000826310]likely benign|conflicting interpretations of pathogenicity|uncertain significance158287538682875386Human2name , trait , alternate_id
34890294CV916783duplicationNM_004839.4(HOMER2):c.807dup (p.Met270fs)Autosomal dominant nonsyndromic hearing loss 68 [RCV001181995]pathogenic158285118682851187Human1name
126913727CV1038363single nucleotide variantNM_004839.4(HOMER2):c.430G>A (p.Ala144Thr)not provided [RCV001357640]uncertain significance158285909382859093Humanname
150493357CV1267130single nucleotide variantNM_004839.4(HOMER2):c.539G>A (p.Arg180Gln)Inborn genetic diseases [RCV002538613]|not provided [RCV001688157]benign|likely benign|uncertain significance158285475682854756Human1name
150532367CV1307873single nucleotide variantNM_004839.4(HOMER2):c.707C>T (p.Thr236Met)not provided [RCV001757595]likely benign158285219782852197Humanname
150550313CV1309207single nucleotide variantNM_004839.4(HOMER2):c.638G>A (p.Arg213Gln)Autosomal dominant nonsyndromic hearing loss 68 [RCV005397010]|not provided [RCV001752888]benign|likely benign158285465782854657Human1name
150550358CV1309289single nucleotide variantNM_004839.4(HOMER2):c.793A>G (p.Ile265Val)not provided [RCV001752970]benign|likely benign158285120182851201Humanname
151842358CV1357663single nucleotide variantNM_004839.4(HOMER2):c.702G>C (p.Lys234Asn)Inborn genetic diseases [RCV004041395]|not provided [RCV001881509]uncertain significance158285220282852202Human1name
151760361CV1403985single nucleotide variantNM_004839.4(HOMER2):c.977T>C (p.Ile326Thr)not provided [RCV002007788]uncertain significance158284977082849770Humanname
151751130CV1426697single nucleotide variantNM_004839.4(HOMER2):c.799C>A (p.Pro267Thr)not provided [RCV002006875]uncertain significance158285119582851195Humanname
151748428CV1442294single nucleotide variantNM_004839.4(HOMER2):c.650A>G (p.Lys217Arg)not provided [RCV002043010]uncertain significance158285464582854645Humanname
151780004CV1473941single nucleotide variantNM_004839.4(HOMER2):c.925C>T (p.Arg309Cys)not provided [RCV001864874]uncertain significance158284982282849822Humanname
151814322CV1494823single nucleotide variantNM_004839.4(HOMER2):c.815A>G (p.Glu272Gly)not provided [RCV001954131]uncertain significance158285117982851179Humanname
151759922CV1503964single nucleotide variantNM_004839.4(HOMER2):c.554G>A (p.Arg185Gln)not provided [RCV002007737]uncertain significance158285474182854741Humanname
152101627CV1621860single nucleotide variantNM_004839.4(HOMER2):c.358A>G (p.Lys120Glu)HOMER2-related disorder [RCV003951068]|Inborn genetic diseases [RCV003015329]|not provided [RCV002115419]benign|likely benign|uncertain significance158286419682864196Human2name , trait , alternate_id
155726631CV1773685single nucleotide variantNM_004839.4(HOMER2):c.672A>T (p.Gln224His)not provided [RCV002301473]uncertain significance158285223282852232Humanname
156323036CV1870850single nucleotide variantNM_004839.4(HOMER2):c.727G>A (p.Glu243Lys)not provided [RCV003063204]likely benign|uncertain significance158285217782852177Humanname
156376991CV1896212single nucleotide variantNM_004839.4(HOMER2):c.613T>G (p.Ser205Ala)not provided [RCV003092956]uncertain significance158285468282854682Humanname
156351917CV1923416single nucleotide variantNM_004839.4(HOMER2):c.998G>A (p.Arg333His)not provided [RCV002650957]uncertain significance158284974982849749Humanname
156445152CV1945151single nucleotide variantNM_004839.4(HOMER2):c.779G>A (p.Arg260Gln)not provided [RCV003116089]uncertain significance158285121582851215Humanname
156079190CV1975683single nucleotide variantNM_004839.4(HOMER2):c.335T>C (p.Ile112Thr)not provided [RCV002621486]likely benign158286421982864219Humanname
155996891CV2109527single nucleotide variantNM_004839.4(HOMER2):c.751G>C (p.Glu251Gln)not provided [RCV002947601]uncertain significance158285215382852153Humanname
156077879CV2141875single nucleotide variantNM_004839.4(HOMER2):c.494G>A (p.Ser165Asn)not provided [RCV002979156]uncertain significance158285902982859029Humanname
10450108CV215059single nucleotide variantNM_004839.4(HOMER2):c.554G>C (p.Arg185Pro)Autosomal dominant nonsyndromic hearing loss 68 [RCV000202595]pathogenic158285474182854741Human1name
156000857CV2284410single nucleotide variantNM_004839.4(HOMER2):c.797T>C (p.Ile266Thr)Inborn genetic diseases [RCV002865341]uncertain significance158285119782851197Human1name
156006556CV2288850single nucleotide variantNM_004839.4(HOMER2):c.407C>T (p.Thr136Met)Inborn genetic diseases [RCV002865824]|not provided [RCV003730295]uncertain significance158285911682859116Human1name
156162277CV2323521single nucleotide variantNM_004839.4(HOMER2):c.541G>C (p.Glu181Gln)Inborn genetic diseases [RCV002929346]uncertain significance158285475482854754Human1name
156351565CV2323783single nucleotide variantNM_004839.4(HOMER2):c.505G>A (p.Val169Met)Inborn genetic diseases [RCV002939954]|not provided [RCV003777960]uncertain significance158285479082854790Human1name
155998936CV2396334single nucleotide variantNM_004839.4(HOMER2):c.578C>T (p.Ser193Leu)Inborn genetic diseases [RCV002779215]uncertain significance158285471782854717Human1name
401728972CV2673108single nucleotide variantNM_004839.4(HOMER2):c.765G>C (p.Glu255Asp)Inborn genetic diseases [RCV003247650]uncertain significance158285122982851229Human1name
401728459CV2686107single nucleotide variantNM_004839.4(HOMER2):c.488C>T (p.Thr163Met)Inborn genetic diseases [RCV003270612]|not provided [RCV005102550]uncertain significance158285903582859035Human1name
401866125CV2775427single nucleotide variantNM_004839.4(HOMER2):c.587G>C (p.Ser196Thr)Inborn genetic diseases [RCV003359896]|not provided [RCV005061328]uncertain significance158285470882854708Human1name
401931328CV2800862single nucleotide variantNM_004839.4(HOMER2):c.944T>A (p.Leu315Ter)HOMER2-related disorder [RCV003391315]uncertain significance158284980382849803Humanname , trait , alternate_id
401936341CV2802920single nucleotide variantNM_004839.4(HOMER2):c.637C>T (p.Arg213Trp)HOMER2-related disorder [RCV003414209]uncertain significance158285465882854658Humanname , trait , alternate_id
402476391CV2857272single nucleotide variantNM_004839.4(HOMER2):c.499G>A (p.Ala167Thr)not provided [RCV003543445]likely benign158285479682854796Humanname
405161921CV2951407single nucleotide variantNM_004839.4(HOMER2):c.373A>G (p.Ser125Gly)not provided [RCV003670790]uncertain significance158286418182864181Humanname
402483752CV2998157single nucleotide variantNM_004839.4(HOMER2):c.974A>G (p.Lys325Arg)not provided [RCV003686864]likely benign158284977382849773Humanname
405090999CV3044828single nucleotide variantNM_004839.4(HOMER2):c.967G>A (p.Asp323Asn)not provided [RCV003717817]likely benign|uncertain significance158284978082849780Humanname
405118880CV3116042single nucleotide variantNM_004839.4(HOMER2):c.896C>T (p.Thr299Ile)not provided [RCV003814532]uncertain significance158284985182849851Humanname
405234856CV3155603single nucleotide variantNM_004839.4(HOMER2):c.497C>T (p.Ala166Val)not provided [RCV003853581]likely benign158285479882854798Humanname
405791450CV3267037single nucleotide variantNM_004839.4(HOMER2):c.650A>C (p.Lys217Thr)Inborn genetic diseases [RCV004399860]|not provided [RCV005104468]uncertain significance158285464582854645Human1name
408384840CV3506341single nucleotide variantNM_004839.4(HOMER2):c.628G>A (p.Glu210Lys)HOMER2-related disorder [RCV004732159]uncertain significance158285466782854667Humanname , trait , alternate_id
408380022CV3509613single nucleotide variantNM_004839.4(HOMER2):c.506T>C (p.Val169Ala)HOMER2-related disorder [RCV004753889]uncertain significance158285478982854789Humanname , trait , alternate_id
596920767CV3534244single nucleotide variantNM_004839.4(HOMER2):c.543G>C (p.Glu181Asp)not specified [RCV004783463]likely benign158285475282854752Humanname
597693151CV3679505single nucleotide variantNM_004839.4(HOMER2):c.644G>A (p.Arg215His)Inborn genetic diseases [RCV004985893]uncertain significance158285465182854651Human1name
597691881CV3679508single nucleotide variantNM_004839.4(HOMER2):c.775C>T (p.Leu259Phe)Inborn genetic diseases [RCV004985896]uncertain significance158285121982851219Human1name
597691888CV3679509single nucleotide variantNM_004839.4(HOMER2):c.920G>A (p.Arg307Gln)Inborn genetic diseases [RCV004985897]uncertain significance158284982782849827Human1name
597691895CV3679510single nucleotide variantNM_004839.4(HOMER2):c.820G>A (p.Glu274Lys)Inborn genetic diseases [RCV004985898]uncertain significance158285117482851174Human1name
597914101CV3740592single nucleotide variantNM_004839.4(HOMER2):c.394A>T (p.Ser132Cys)not provided [RCV005073929]uncertain significance158285912982859129Humanname
597936869CV3759858single nucleotide variantNM_004839.4(HOMER2):c.601A>G (p.Lys201Glu)not provided [RCV005076780]uncertain significance158285469482854694Humanname
597920081CV3781204single nucleotide variantNM_004839.4(HOMER2):c.958G>A (p.Glu320Lys)not provided [RCV005130086]uncertain significance158284978982849789Humanname
597958000CV3796867single nucleotide variantNM_004839.4(HOMER2):c.696G>C (p.Lys232Asn)not provided [RCV005137765]uncertain significance158285220882852208Humanname
597859009CV3817099single nucleotide variantNM_004839.4(HOMER2):c.702G>T (p.Lys234Asn)not provided [RCV005146480]uncertain significance158285220282852202Humanname
597897932CV3826562single nucleotide variantNM_004839.4(HOMER2):c.856G>A (p.Asp286Asn)not provided [RCV005180695]uncertain significance158284989182849891Humanname
598191131CV3975541single nucleotide variantNM_004839.4(HOMER2):c.622C>T (p.Arg208Cys)Inborn genetic diseases [RCV005354237]uncertain significance158285467382854673Human1name
598191140CV3975543single nucleotide variantNM_004839.4(HOMER2):c.749G>A (p.Arg250Gln)Inborn genetic diseases [RCV005354239]uncertain significance158285215582852155Human1name
598248988CV3975544single nucleotide variantNM_004839.4(HOMER2):c.428A>T (p.His143Leu)Inborn genetic diseases [RCV005345523]uncertain significance158285909582859095Human1name
598248993CV3975545single nucleotide variantNM_004839.4(HOMER2):c.403G>A (p.Gly135Arg)Inborn genetic diseases [RCV005345524]uncertain significance158285912082859120Human1name
598198869CV4007235single nucleotide variantNM_004839.4(HOMER2):c.854G>A (p.Arg285Lys)Autosomal dominant nonsyndromic hearing loss 68 [RCV005398063]uncertain significance158284989382849893Human1name
13517605CV491722single nucleotide variantNM_004839.4(HOMER2):c.643C>T (p.Arg215Cys)not provided [RCV000596644]conflicting interpretations of pathogenicity|uncertain significance158285465282854652Humanname
13516853CV492268single nucleotide variantNM_004839.4(HOMER2):c.609G>T (p.Gln203His)HOMER2-related disorder [RCV003915729]|Inborn genetic diseases [RCV004629250]|not provided [RCV000596040]likely benign|conflicting interpretations of pathogenicity|uncertain significance158285468682854686Human2name , trait , alternate_id
13541793CV504993single nucleotide variantNM_004839.4(HOMER2):c.764A>G (p.Glu255Gly)not provided [RCV000971947]|not specified [RCV000616651]benign|likely benign158285123082851230Humanname
13531710CV505222single nucleotide variantNM_004839.4(HOMER2):c.623G>A (p.Arg208His)not provided [RCV000957332]|not specified [RCV000606562]benign158285467282854672Humanname
21066578CV793555single nucleotide variantNM_004839.4(HOMER2):c.350C>T (p.Thr117Met)not provided [RCV000992155]uncertain significance158286420482864204Humanname
151764183CV1403112single nucleotide variantNM_004839.4(HOMER2):c.1004G>A (p.Gly335Glu)Inborn genetic diseases [RCV002557859]|not provided [RCV001914330]uncertain significance158284974382849743Human1name
152141789CV1588575indelNM_004839.4(HOMER2):c.495-15_495-14delinsTCnot provided [RCV002200668]likely benign158285481482854815Humanname
156202979CV2076567single nucleotide variantNM_004839.4(HOMER2):c.1031A>T (p.Ter344Leu)not provided [RCV002852533]uncertain significance158284971682849716Humanname
405124619CV2889576single nucleotide variantNM_004839.4(HOMER2):c.1025A>G (p.Asp342Gly)HOMER2-related disorder [RCV003966516]|not provided [RCV003559446]benign|likely benign158284972282849722Human1name , trait , alternate_id
402499107CV2922810single nucleotide variantNM_004839.4(HOMER2):c.1030T>G (p.Ter344Glu)not provided [RCV003573806]uncertain significance158284971782849717Humanname
405855140CV3395738single nucleotide variantNM_004839.4(HOMER2):c.1022C>A (p.Thr341Asn)Autosomal dominant nonsyndromic hearing loss 68 [RCV004556001]uncertain significance158284972582849725Human1name
408380314CV3514408single nucleotide variantNM_004839.4(HOMER2):c.1016T>A (p.Leu339Gln)HOMER2-related disorder [RCV004754117]uncertain significance158284973182849731Humanname , trait , alternate_id
597691869CV3679507single nucleotide variantNM_004839.4(HOMER2):c.1001G>A (p.Arg334Gln)Inborn genetic diseases [RCV004985895]|not provided [RCV005110354]uncertain significance158284974682849746Human1name
597660617CV3731848single nucleotide variantNM_004839.4(HOMER2):c.1031A>G (p.Ter344Trp)Autosomal dominant nonsyndromic hearing loss 68 [RCV005002070]likely pathogenic158284971682849716Human1name
126730615CV1001324deletionNM_004839.4(HOMER2):c.799_803del (p.Pro267fs)Autosomal dominant nonsyndromic hearing loss 68 [RCV001327994]pathogenic158285119182851195Human1name
150542405CV1307760insertionNM_004839.4(HOMER2):c.388-180_388-179insGTTTAnot provided [RCV001769535]likely benign158285931482859315Humanname
597721666CV3733786deletionNM_004839.4(HOMER2):c.1023_1029del (p.Asp342fs)Autosomal dominant nonsyndromic hearing loss 68 [RCV005053091]likely pathogenic158284971882849724Human1name