Send us a Message



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


More than 1000 records found for search term Foxp1 (Displaying 1000)
For a more accurate result, please refine your search term.

Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11596993CV292834single nucleotide variantNM_032682.6(FOXP1):c.*39A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000388813]likely benign37095920870959208Humanname
11582696CV291557single nucleotide variantNM_032682.6(FOXP1):c.-208C>GIntellectual Disability with Language Impairment and Autistic Features [RCV000261454]likely benign37149346671493466Humanname
11650150CV291566single nucleotide variantNM_032682.6(FOXP1):c.-441G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000291163]uncertain significance37158169271581692Humanname
11591053CV292792single nucleotide variantNM_032682.6(FOXP1):c.*827G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000325191]likely benign37095842070958420Humanname
11587619CV292814single nucleotide variantNM_032682.6(FOXP1):c.*665G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000296423]likely benign37095858270958582Humanname
11585728CV292841single nucleotide variantNM_032682.6(FOXP1):c.-385C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000282857]likely benign37158163671581636Humanname
11589381CV296141single nucleotide variantNM_032682.6(FOXP1):c.*222C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000310220]likely benign37095902570959025Humanname
11659953CV296142single nucleotide variantNM_032682.6(FOXP1):c.*119A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000362573]uncertain significance37095912870959128Humanname
11595624CV296157single nucleotide variantNM_032682.6(FOXP1):c.-112C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000372493]likely benign37135918971359189Humanname
11596531CV296159single nucleotide variantNM_032682.6(FOXP1):c.*974G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000383260]likely benign37095827370958273Humanname
11658476CV296163single nucleotide variantNM_032682.6(FOXP1):c.*616C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000348983]uncertain significance37095863170958631Humanname
11657303CV296173single nucleotide variantNM_032682.6(FOXP1):c.-393G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000340176]uncertain significance37158164471581644Humanname
11657734CV296174single nucleotide variantNM_032682.5(FOXP1):c.-482G>CIntellectual Disability with Language Impairment and Autistic Features [RCV000343810]uncertain significance37158394571583945Humanname
11650807CV296175single nucleotide variantNM_032682.5(FOXP1):c.-520T>AIntellectual Disability with Language Impairment and Autistic Features [RCV000295334]uncertain significance37158398371583983Humanname
11655049CV296192single nucleotide variantNM_032682.6(FOXP1):c.-249C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000322668]uncertain significance37149350771493507Humanname
11596526CV296193single nucleotide variantNM_032682.6(FOXP1):c.-425A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000383179]likely benign37158167671581676Humanname
11664569CV296194single nucleotide variantNM_032682.5(FOXP1):c.-494A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000407149]uncertain significance37158395771583957Humanname
11585624CV291498single nucleotide variantNM_032682.6(FOXP1):c.*2826A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000282199]likely benign37095642170956421Humanname
11595558CV291500single nucleotide variantNM_032682.6(FOXP1):c.*2682A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000371977]likely benign37095656570956565Humanname
11664511CV291507single nucleotide variantNM_032682.6(FOXP1):c.*2312T>CIntellectual Disability with Language Impairment and Autistic Features [RCV000406203]uncertain significance37095693570956935Humanname
11659906CV291520single nucleotide variantNM_032682.6(FOXP1):c.*2237G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000362195]uncertain significance37095701070957010Humanname
11584404CV291523single nucleotide variantNM_032682.6(FOXP1):c.*2067A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000273513]uncertain significance37095718070957180Humanname
11598558CV291530single nucleotide variantNM_032682.6(FOXP1):c.*1189A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000407225]likely benign37095805870958058Humanname
11651679CV291532single nucleotide variantNM_032682.6(FOXP1):c.*1100T>CIntellectual Disability with Language Impairment and Autistic Features [RCV000300207]uncertain significance37095814770958147Humanname
11591300CV292727single nucleotide variantNM_032682.6(FOXP1):c.*3417C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000327228]uncertain significance37095583070955830Humanname
11634721CV292743duplicationNM_032682.6(FOXP1):c.*3175dupIntellectual Disability with Language Impairment and Autistic Features [RCV000270170]benign37095607170956072Humanname
11597046CV292750single nucleotide variantNM_032682.6(FOXP1):c.*2942A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000389227]likely benign37095630570956305Humanname
11586290CV292753single nucleotide variantNM_032682.6(FOXP1):c.*2575C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000286806]likely benign37095667270956672Humanname
11589020CV292754single nucleotide variantNM_032682.6(FOXP1):c.*2302A>TIntellectual Disability with Language Impairment and Autistic Features [RCV000307531]likely benign37095694570956945Humanname
11596300CV292756single nucleotide variantNM_032682.6(FOXP1):c.*1536G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000380449]likely benign37095771170957711Humanname
11593227CV292760single nucleotide variantNM_032682.6(FOXP1):c.*1296C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000346518]likely benign37095795170957951Humanname
11649643CV292765single nucleotide variantNM_032682.6(FOXP1):c.*1209G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000288453]uncertain significance37095803870958038Humanname
11593852CV292766single nucleotide variantNM_032682.6(FOXP1):c.*1208C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000352853]uncertain significance37095803970958039Humanname
11589756CV292767single nucleotide variantNM_032682.6(FOXP1):c.*1131T>GIntellectual Disability with Language Impairment and Autistic Features [RCV000312961]uncertain significance37095811670958116Humanname
11583569CV292772single nucleotide variantNM_032682.6(FOXP1):c.*1043T>AIntellectual Disability with Language Impairment and Autistic Features [RCV000267593]likely benign37095820470958204Humanname
11586555CV296039single nucleotide variantNM_032682.6(FOXP1):c.*4515C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000288671]likely benign37095473270954732Humanname
11598287CV296040single nucleotide variantNM_032682.6(FOXP1):c.*3818C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000403621]likely benign37095542970955429Humanname
11594040CV296045single nucleotide variantNM_032682.6(FOXP1):c.*3693G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000354925]likely benign37095555470955554Humanname
11659557CV296067single nucleotide variantNM_032682.6(FOXP1):c.*3402G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000358939]uncertain significance37095584570955845Humanname
11592898CV296073single nucleotide variantNM_032682.6(FOXP1):c.*4411G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000343581]likely benign37095483670954836Humanname
11589784CV296074single nucleotide variantNM_032682.6(FOXP1):c.*4076C>AIntellectual Disability with Language Impairment and Autistic Features [RCV000313483]likely benign37095517170955171Humanname
11655381CV296076single nucleotide variantNM_032682.6(FOXP1):c.*2979C>TIntellectual Disability with Language Impairment and Autistic Features [RCV000325287]uncertain significance37095626870956268Humanname
11582499CV296077single nucleotide variantNM_032682.6(FOXP1):c.*3685G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000260160]likely benign37095556270955562Humanname
11645516CV296081single nucleotide variantNM_032682.6(FOXP1):c.*3659T>AIntellectual Disability with Language Impairment and Autistic Features [RCV000265791]uncertain significance37095558870955588Humanname
11662308CV296093single nucleotide variantNM_032682.6(FOXP1):c.*3424G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000384732]uncertain significance37095582370955823Humanname
11654694CV296098single nucleotide variantNM_032682.6(FOXP1):c.*1857A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000319355]uncertain significance37095739070957390Humanname
11645227CV296103single nucleotide variantNM_032682.6(FOXP1):c.*3313T>CIntellectual Disability with Language Impairment and Autistic Features [RCV000264196]uncertain significance37095593470955934Humanname
11597435CV296113single nucleotide variantNM_032682.6(FOXP1):c.*2473T>AIntellectual Disability with Language Impairment and Autistic Features [RCV000393825]uncertain significance37095677470956774Humanname
11651958CV296122single nucleotide variantNM_032682.6(FOXP1):c.*2362A>GIntellectual Disability with Language Impairment and Autistic Features [RCV000301871]uncertain significance37095688570956885Humanname
11590172CV296127single nucleotide variantNM_032682.6(FOXP1):c.*1536G>TIntellectual Disability with Language Impairment and Autistic Features [RCV000316541]likely benign37095771170957711Humanname
11593304CV296128single nucleotide variantNM_032682.6(FOXP1):c.*2337G>CIntellectual Disability with Language Impairment and Autistic Features [RCV000347443]likely benign37095691070956910Humanname
11649222CV296133single nucleotide variantNM_032682.6(FOXP1):c.*1523G>TIntellectual Disability with Language Impairment and Autistic Features [RCV000285877]uncertain significance37095772470957724Humanname
11664156CV296137single nucleotide variantNM_032682.6(FOXP1):c.*1104C>AIntellectual Disability with Language Impairment and Autistic Features [RCV000402947]uncertain significance37095814370958143Humanname
11583072CV296140single nucleotide variantNM_032682.6(FOXP1):c.*1037C>AIntellectual Disability with Language Impairment and Autistic Features [RCV000264119]benign37095821070958210Humanname
11589785CV296147single nucleotide variantNM_032682.6(FOXP1):c.*2157G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000313277]likely benign37095709070957090Humanname
11590756CV296155single nucleotide variantNM_032682.6(FOXP1):c.*1409T>CIntellectual Disability with Language Impairment and Autistic Features [RCV000322107]benign37095783870957838Humanname
11650228CV296158single nucleotide variantNM_032682.6(FOXP1):c.*1306G>AIntellectual Disability with Language Impairment and Autistic Features [RCV000291571]uncertain significance37095794170957941Humanname
11665680CV353652deletionNM_032682.5(FOXP1):c.-542delGIntellectual Disability with Language Impairment and Autistic Features [RCV000287290]likely benign37158400571584005Human1name
13214516CV428212single nucleotide variantNM_001349338.3(FOXP1):c.*6G>Cnot specified [RCV000501187]uncertain significance37095924170959241Humanname
11591764CV296143duplicationNM_001349338.3(FOXP1):c.*56dupIntellectual Disability with Language Impairment and Autistic Features [RCV000332049]|not provided [RCV001675847]benign37095919070959191Human1name
11646303CV296186duplicationNM_001349338.3(FOXP1):c.*58dupIntellectual Disability with Language Impairment and Autistic Features [RCV000269911]uncertain significance37095918870959189Human1name
11590558CV296189single nucleotide variantNM_001349338.3(FOXP1):c.-91G>Anot provided [RCV001670826]benign37135916871359168Humanname
11648294CV291544deletionNM_001349338.3(FOXP1):c.*567delIntellectual Disability with Language Impairment and Autistic Features [RCV000281073]uncertain significance37095868070958680Human1name
11592733CV291550deletionNM_001349338.3(FOXP1):c.*509delIntellectual Disability with Language Impairment and Autistic Features [RCV000341716]uncertain significance37095873870958738Human1name
11596228CV291558single nucleotide variantNM_032682.5(FOXP1):c.-297-14T>CIntellectual Disability with Language Impairment and Autistic Features [RCV000379645]likely benign37149356971493569Humanname
11663087CV292815deletionNM_001349338.3(FOXP1):c.*596delIntellectual Disability with Language Impairment and Autistic Features [RCV000392064]uncertain significance37095865170958651Human1name
11651333CV292817deletionNM_001349338.3(FOXP1):c.*510delIntellectual Disability with Language Impairment and Autistic Features [RCV000298497]uncertain significance37095873770958737Human1name
11646596CV292819deletionNM_001349338.3(FOXP1):c.*476delIntellectual Disability with Language Impairment and Autistic Features [RCV000271513]uncertain significance37095877170958771Human1name
11657079CV296164deletionNM_001349338.3(FOXP1):c.*511delIntellectual Disability with Language Impairment and Autistic Features [RCV000338356]uncertain significance37095873670958736Human1name
11659528CV296168deletionNM_001349338.3(FOXP1):c.*479delIntellectual Disability with Language Impairment and Autistic Features [RCV000358972]uncertain significance37095876870958768Human1name
150409993CV1176394single nucleotide variantNM_001349338.3(FOXP1):c.511-3C>Anot provided [RCV001546441]likely pathogenic|conflicting interpretations of pathogenicity37104709871047098Humanname
152982995CV1677841single nucleotide variantNM_001349338.3(FOXP1):c.975-2A>GIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002249995]pathogenic37100106171001061Human1name
152999341CV1679782single nucleotide variantNM_001349338.3(FOXP1):c.511-3C>GIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002251171]uncertain significance37104709871047098Human1name
155803887CV1858454single nucleotide variantNM_001349338.3(FOXP1):c.869+3A>Gnot provided [RCV002462764]uncertain significance37104132571041325Humanname
156439158CV1944026single nucleotide variantNM_001349338.3(FOXP1):c.420+9C>Tnot provided [RCV003109114]likely benign37105362771053627Humanname
156449251CV1944515single nucleotide variantNM_001349338.3(FOXP1):c.283-4C>Tnot provided [RCV003121366]likely benign37105377771053777Humanname
156224098CV1962303single nucleotide variantNM_001349338.3(FOXP1):c.421-4G>Anot provided [RCV002596566]likely benign37105263071052630Humanname
156340691CV1984865single nucleotide variantNM_001349338.3(FOXP1):c.421-5T>Cnot provided [RCV002631418]likely benign37105263171052631Humanname
156096586CV2010696single nucleotide variantNM_001349338.3(FOXP1):c.181-7C>Tnot provided [RCV002695140]likely benign37111264471112644Humanname
155935079CV2035362single nucleotide variantNM_001349338.3(FOXP1):c.664+6C>TInborn genetic diseases [RCV002780470]|not provided [RCV002751394]benign|likely benign37104693671046936Human1name
155940790CV2068117single nucleotide variantNM_001349338.3(FOXP1):c.511-7C>Gnot provided [RCV002839392]likely benign37104710271047102Humanname
10403728CV207088single nucleotide variantNM_001349338.3(FOXP1):c.181-4C>Tnot provided [RCV005055698]|not specified [RCV000193249]likely benign|uncertain significance37111264171112641Humanname
156147425CV2078749single nucleotide variantNM_001349338.3(FOXP1):c.420+3A>Gnot provided [RCV002872203]uncertain significance37105363371053633Humanname
156213731CV2110810single nucleotide variantNM_001349338.3(FOXP1):c.180+7G>TFOXP1-related disorder [RCV003961194]|not provided [RCV002918270]likely benign37119819571198195Human1name , alternate_id
329397537CV2456280single nucleotide variantNM_001349338.3(FOXP1):c.180+4C>TInborn genetic diseases [RCV003195587]uncertain significance37119819871198198Human1name
401903077CV2802571single nucleotide variantNM_001349338.3(FOXP1):c.870-2A>CFOXP1-related disorder [RCV003394357]likely pathogenic37101565571015655Humanname , trait , alternate_id
401914518CV2830729single nucleotide variantNM_001349338.3(FOXP1):c.870-2A>Gnot provided [RCV003442467]pathogenic37101565571015655Humanname
405224417CV2887636single nucleotide variantNM_001349338.3(FOXP1):c.421-9C>Gnot provided [RCV003554339]likely benign37105263571052635Humanname
11598367CV291489single nucleotide variantNM_001349338.3(FOXP1):c.*3413T>Cnot provided [RCV002263327]benign|likely benign37095583470955834Humanname
11652324CV291491deletionNM_001349338.3(FOXP1):c.*3403delIntellectual Disability with Language Impairment and Autistic Features [RCV000304123]uncertain significance37095584470955844Human1name
11660557CV292723deletionNM_001349338.3(FOXP1):c.*4029delIntellectual Disability with Language Impairment and Autistic Features [RCV000368060]|not provided [RCV003437100]benign|uncertain significance37095521870955218Human1name
11647457CV292751duplicationNM_001349338.3(FOXP1):c.*2837dupIntellectual Disability with Language Impairment and Autistic Features [RCV000276389]uncertain significance37095640970956410Human1name
11656761CV292752duplicationNM_001349338.3(FOXP1):c.*2757dupIntellectual Disability with Language Impairment and Autistic Features [RCV000335963]uncertain significance37095648970956490Human1name
11595175CV292769duplicationNM_001349338.3(FOXP1):c.*1125dupIntellectual Disability with Language Impairment and Autistic Features [RCV000367662]benign37095812170958122Human1name
402486831CV2928431single nucleotide variantNM_001349338.3(FOXP1):c.665-5T>Cnot provided [RCV003572608]likely benign37104153771041537Humanname
11594602CV296049duplicationNM_001349338.3(FOXP1):c.*3676dupIntellectual Disability with Language Impairment and Autistic Features [RCV000360866]benign37095557070955571Human1name
11635247CV296050duplicationNM_001349338.3(FOXP1):c.*3608dupIntellectual Disability with Language Impairment and Autistic Features [RCV000320893]likely benign37095563870955639Human1name
11653291CV296068duplicationNM_001349338.3(FOXP1):c.*3303dupIntellectual Disability with Language Impairment and Autistic Features [RCV000309991]uncertain significance37095594370955944Human1name
11651609CV296075deletionNM_001349338.3(FOXP1):c.*3722delIntellectual Disability with Language Impairment and Autistic Features [RCV000300106]uncertain significance37095552570955525Human1name
11656183CV296085deletionNM_001349338.3(FOXP1):c.*2832delIntellectual Disability with Language Impairment and Autistic Features [RCV000331434]uncertain significance37095641570956415Human1name
11635732CV296086duplicationNM_001349338.3(FOXP1):c.*2831dupIntellectual Disability with Language Impairment and Autistic Features [RCV000385910]|not provided [RCV004695763]uncertain significance37095641570956416Human1name
11635595CV296096duplicationNM_001349338.3(FOXP1):c.*2092dupIntellectual Disability with Language Impairment and Autistic Features [RCV000368163]likely benign37095715470957155Human1name
11659170CV296108duplicationNM_001349338.3(FOXP1):c.*1669dupIntellectual Disability with Language Impairment and Autistic Features [RCV000355445]|not provided [RCV003221945]likely benign|uncertain significance37095757770957578Human1name
11594947CV296112deletionNM_001349338.3(FOXP1):c.*3192delIntellectual Disability with Language Impairment and Autistic Features [RCV000364758]|not provided [RCV003326416]likely benign|uncertain significance37095605570956055Human1name
11634615CV296148duplicationNM_001349338.3(FOXP1):c.*1541dupIntellectual Disability with Language Impairment and Autistic Features [RCV000261245]|not provided [RCV004695764]uncertain significance37095770570957706Human1name
405182286CV3120048single nucleotide variantNM_001349338.3(FOXP1):c.664+7G>Anot provided [RCV003820142]likely benign37104693571046935Humanname
408385026CV3505477single nucleotide variantNM_001349338.3(FOXP1):c.421-9C>AFOXP1-related disorder [RCV004732324]likely benign37105263571052635Humanname , trait , alternate_id
597904996CV3742041single nucleotide variantNM_001349338.3(FOXP1):c.421-8C>Tnot provided [RCV005072825]likely benign37105263471052634Humanname
597949098CV3772276single nucleotide variantNM_001349338.3(FOXP1):c.282+2T>Cnot provided [RCV005120595]likely pathogenic37111253471112534Humanname
597839663CV3825028single nucleotide variantNM_001349338.3(FOXP1):c.180+6G>Anot provided [RCV005171892]uncertain significance37119819671198196Humanname
597908211CV3829882single nucleotide variantNM_001349338.3(FOXP1):c.869+9C>Tnot provided [RCV005182451]likely benign37104131971041319Humanname
597909264CV3830000single nucleotide variantNM_001349338.3(FOXP1):c.180+7G>Anot provided [RCV005182569]likely benign37119819571198195Humanname
597970596CV3832518duplicationNM_001349338.3(FOXP1):c.180+3dupnot provided [RCV005166597]uncertain significance37119819871198199Humanname
597971709CV3833155single nucleotide variantNM_001349338.3(FOXP1):c.180+4C>Gnot provided [RCV005167052]uncertain significance37119819871198198Humanname
616938289CV4013033single nucleotide variantNM_001349338.3(FOXP1):c.511-1G>Anot provided [RCV005410500]likely pathogenic37104709671047096Humanname
13212898CV426741single nucleotide variantNM_001349338.3(FOXP1):c.869+1G>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000497862]pathogenic37104132771041327Human1name
13435260CV431906single nucleotide variantNM_001349338.3(FOXP1):c.975-2A>CIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000505255]pathogenic37100106171001061Human1name
15151073CV759244single nucleotide variantNM_001349338.3(FOXP1):c.975-6T>Cnot provided [RCV000923598]likely benign37100106571001065Humanname
15100534CV787185single nucleotide variantNM_001349338.3(FOXP1):c.665-7G>Tnot provided [RCV000975425]likely benign37104153971041539Humanname
21071216CV790419single nucleotide variantNM_001349338.3(FOXP1):c.870-1G>CIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987290]pathogenic37101565471015654Human1name
8578767CV113155single nucleotide variantNM_032682.5(FOXP1):c.180+39844G>ALung cancer [RCV000093678]uncertain significance37115835871158358Humanname
150331859CV1163438single nucleotide variantNM_001349338.3(FOXP1):c.181-29G>Anot provided [RCV001527978]likely benign37111266671112666Humanname
150408704CV1176395single nucleotide variantNM_001349338.3(FOXP1):c.-11-71A>Tnot provided [RCV001545997]likely benign37119846371198463Humanname
150445594CV1215521single nucleotide variantNM_001349338.3(FOXP1):c.-11-64C>Tnot provided [RCV001611114]benign37119845671198456Humanname
150435060CV1221549single nucleotide variantNM_001349338.3(FOXP1):c.180+96T>Cnot provided [RCV001609237]benign37119810671198106Humanname
150471001CV1248127single nucleotide variantNM_001349338.3(FOXP1):c.-11-33T>Anot provided [RCV001671163]benign37119842571198425Humanname
150506732CV1258039duplicationNM_001349338.3(FOXP1):c.870-74dupnot provided [RCV001678256]benign37101572171015722Humanname
150452997CV1260463single nucleotide variantNM_001349338.3(FOXP1):c.181-50C>Tnot provided [RCV001680953]benign37111268771112687Humanname
150461267CV1264287single nucleotide variantNM_001349338.3(FOXP1):c.180+49T>Cnot provided [RCV001682204]benign37119815371198153Humanname
150498466CV1271515single nucleotide variantNM_001349338.3(FOXP1):c.-11-52C>Tnot provided [RCV001689205]benign37119844471198444Humanname
150476151CV1279200single nucleotide variantNM_001349338.3(FOXP1):c.-11-29T>Anot provided [RCV001713942]benign37119842171198421Humanname
151236077CV1319508single nucleotide variantNM_001349338.3(FOXP1):c.1653-3C>Gnot provided [RCV001797453]uncertain significance37097080870970808Humanname
151661704CV1329961single nucleotide variantNM_001349338.3(FOXP1):c.-447+5G>Anot provided [RCV001823371]uncertain significance37158356671583566Humanname
8659612CV134554single nucleotide variantNM_001349338.3(FOXP1):c.1890-5T>CInborn genetic diseases [RCV002312109]|not provided [RCV000971698]|not specified [RCV000117093]benign|likely benign37095939670959396Human1name
152128398CV1583749single nucleotide variantNM_001349338.3(FOXP1):c.665-19T>Cnot provided [RCV002198994]likely benign37104155171041551Humanname
153000082CV1682849single nucleotide variantNM_001349338.3(FOXP1):c.1653-5C>GSee cases [RCV002252859]uncertain significance37097081070970810Humanname
10050526CV192059single nucleotide variantNM_001349338.3(FOXP1):c.1652+5G>AInborn genetic diseases [RCV003258680]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253743]|not provided [RCV000358706]|not specified [RCV001818420]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance37097255070972550Human2name
156434641CV1940144single nucleotide variantNM_001349338.3(FOXP1):c.1063-8C>Tnot provided [RCV003104558]likely benign37098808570988085Humanname
156411912CV1972864single nucleotide variantNM_001349338.3(FOXP1):c.510+14A>Gnot provided [RCV002587645]likely benign37105252371052523Humanname
156330218CV1990955single nucleotide variantNM_001349338.3(FOXP1):c.1889+8T>Cnot provided [RCV002630887]likely benign37096588270965882Humanname
156179926CV2023291deletionNM_001349338.3(FOXP1):c.511-18delnot provided [RCV002765584]likely benign37104711371047113Humanname
156230504CV2024231single nucleotide variantNM_001349338.3(FOXP1):c.511-16T>Anot provided [RCV002745288]likely benign37104711171047111Humanname
155911262CV2037638single nucleotide variantNM_001349338.3(FOXP1):c.665-15A>Gnot provided [RCV002771602]benign37104154771041547Humanname
156030154CV2059077single nucleotide variantNM_001349338.3(FOXP1):c.975-18T>Gnot provided [RCV002796018]likely benign37100107771001077Humanname
155979032CV2073255single nucleotide variantNM_001349338.3(FOXP1):c.1652+6T>Cnot provided [RCV002842426]uncertain significance37097254970972549Humanname
155964423CV2080657single nucleotide variantNM_001349338.3(FOXP1):c.1530+3A>Gnot provided [RCV002863014]uncertain significance37097693870976938Humanname
156187656CV2086615single nucleotide variantNM_001349338.3(FOXP1):c.1428+3A>Gnot provided [RCV002852034]likely benign|uncertain significance37097764070977640Humanname
156272783CV2136646single nucleotide variantNM_001349338.3(FOXP1):c.1531-7G>Anot provided [RCV003009327]likely benign37097268370972683Humanname
156303490CV2146566single nucleotide variantNM_001349338.3(FOXP1):c.282+18T>Cnot provided [RCV003028207]likely benign37111251871112518Humanname
156132470CV2169237single nucleotide variantNM_001349338.3(FOXP1):c.282+15T>Gnot provided [RCV003022229]likely benign37111252171112521Humanname
156232473CV2173113duplicationNM_001349338.3(FOXP1):c.511-19dupnot provided [RCV003059359]benign37104711371047114Humanname
156198826CV2187025single nucleotide variantNM_001349338.3(FOXP1):c.510+17T>Gnot provided [RCV003058087]likely benign37105252071052520Humanname
243058488CV2405085single nucleotide variantNM_001349338.3(FOXP1):c.1429-1G>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003140635]likely pathogenic37097704370977043Human1name
401830039CV2417734single nucleotide variantNM_001349338.3(FOXP1):c.1530+1G>TIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003327594]pathogenic37097694070976940Human1name
329351183CV2477968single nucleotide variantNM_001349338.3(FOXP1):c.1429-1G>TSee cases [RCV003224079]likely pathogenic37097704370977043Humanname
401795885CV2742853single nucleotide variantNM_001349338.3(FOXP1):c.1428+1G>Cnot provided [RCV003325369]likely pathogenic37097764270977642Humanname
401856532CV2752562single nucleotide variantNM_001349338.3(FOXP1):c.1349-1G>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003340900]likely pathogenic37097772370977723Human1name
401926469CV2827554single nucleotide variantNM_001349338.3(FOXP1):c.1722+6A>Tnot provided [RCV003437906]likely benign37097073070970730Humanname
402515259CV2856642single nucleotide variantNM_001349338.3(FOXP1):c.974+16T>Cnot provided [RCV003575435]likely benign37101553371015533Humanname
402518372CV2877209single nucleotide variantNM_001349338.3(FOXP1):c.869+17G>Tnot provided [RCV003575661]likely benign37104131171041311Humanname
405205133CV2916168single nucleotide variantNM_001349338.3(FOXP1):c.180+13G>Tnot provided [RCV003566401]likely benign37119818971198189Humanname
402501253CV2923107single nucleotide variantNM_001349338.3(FOXP1):c.664+17C>Gnot provided [RCV003573954]likely benign37104692571046925Humanname
11635800CV292838duplicationNM_001349338.3(FOXP1):c.1147-9dupIntellectual Disability with Language Impairment and Autistic Features [RCV000392267]|not provided [RCV003736737]benign|uncertain significance37097803770978038Human1name
405113410CV2939169single nucleotide variantNM_001349338.3(FOXP1):c.283-18C>Anot provided [RCV003666611]likely benign37105379171053791Humanname
402489868CV2948919single nucleotide variantNM_001349338.3(FOXP1):c.510+13C>Tnot provided [RCV003660444]likely benign37105252471052524Humanname
405161250CV2950358single nucleotide variantNM_001349338.3(FOXP1):c.1889+7A>Gnot provided [RCV003674700]likely benign37096588370965883Humanname
11595390CV296152single nucleotide variantNM_001349338.3(FOXP1):c.975-14A>Gnot provided [RCV002192240]benign|likely benign37100107371001073Humanname
405240883CV2970634single nucleotide variantNM_001349338.3(FOXP1):c.420+10C>Tnot provided [RCV003684044]likely benign37105362671053626Humanname
405202740CV2989295single nucleotide variantNM_001349338.3(FOXP1):c.420+10C>Anot provided [RCV003678349]likely benign37105362671053626Humanname
402479432CV2990893single nucleotide variantNM_001349338.3(FOXP1):c.1889+7A>Tnot provided [RCV003686441]uncertain significance37096588370965883Humanname
402475647CV3000741single nucleotide variantNM_001349338.3(FOXP1):c.1722+5G>CIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003883223]|not provided [RCV003721360]likely pathogenic|uncertain significance37097073170970731Human1name
405095867CV3019138single nucleotide variantNM_001349338.3(FOXP1):c.1147-3C>Tnot provided [RCV003700083]uncertain significance37097803270978032Humanname
405085854CV3028275single nucleotide variantNM_001349338.3(FOXP1):c.1146+5G>Anot provided [RCV003699321]uncertain significance37098798970987989Humanname
402510523CV3042503single nucleotide variantNM_001349338.3(FOXP1):c.283-14C>Tnot provided [RCV003715628]likely benign37105378771053787Humanname
405202704CV3129346single nucleotide variantNM_001349338.3(FOXP1):c.1063-5G>AFOXP1-related disorder [RCV003921366]|not provided [RCV003822199]likely benign37098808270988082Human1name , alternate_id
405138705CV3130740single nucleotide variantNM_001349338.3(FOXP1):c.421-15C>Tnot provided [RCV003838974]likely benign37105264171052641Humanname
405138660CV3130741single nucleotide variantNM_001349338.3(FOXP1):c.421-20G>Anot provided [RCV003838975]likely benign37105264671052646Humanname
405057219CV3134873single nucleotide variantNM_001349338.3(FOXP1):c.1147-9T>Cnot provided [RCV003832545]likely benign37097803870978038Humanname
405143432CV3141345single nucleotide variantNM_001349338.3(FOXP1):c.665-17C>Tnot provided [RCV003839461]likely benign37104154971041549Humanname
405219616CV3154269single nucleotide variantNM_001349338.3(FOXP1):c.181-16T>Cnot provided [RCV003846961]likely benign37111265371112653Humanname
405223069CV3154955single nucleotide variantNM_001349338.3(FOXP1):c.870-14G>Anot provided [RCV003847451]likely benign37101566771015667Humanname
405089127CV3167501single nucleotide variantNM_001349338.3(FOXP1):c.181-14G>Anot provided [RCV003852084]likely benign37111265171112651Humanname
405255462CV3172388single nucleotide variantNM_001349338.3(FOXP1):c.511-12G>Anot provided [RCV003872326]likely benign37104710771047107Humanname
402464143CV3172653single nucleotide variantNM_001349338.3(FOXP1):c.180+18C>Gnot provided [RCV003872591]likely benign37119818471198184Humanname
405004393CV3184545single nucleotide variantNM_001349338.3(FOXP1):c.1429-3C>GIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003883334]|not provided [RCV005101446]uncertain significance37097704570977045Human1name
407477616CV3495173single nucleotide variantNM_001349338.3(FOXP1):c.510+10A>Gnot specified [RCV004691076]likely benign37105252771052527Humanname
407503239CV3495788single nucleotide variantNM_001349338.3(FOXP1):c.1889+5G>Anot provided [RCV004697628]likely pathogenic37096588570965885Humanname
596922604CV3537305single nucleotide variantNM_001349338.3(FOXP1):c.-168+2T>Gnot provided [RCV004787275]uncertain significance37149342471493424Humanname
12741683CV361123single nucleotide variantNM_001349338.3(FOXP1):c.1348+2T>CAutism [RCV000414900]likely pathogenic37097782670977826Human2name
12849514CV363984single nucleotide variantNM_001349338.3(FOXP1):c.181-13T>Gnot provided [RCV000431256]benign|likely benign37111265071112650Humanname
597927616CV3783492single nucleotide variantNM_001349338.3(FOXP1):c.1723-6T>Cnot provided [RCV005116179]likely benign37096606270966062Humanname
597883622CV3784283single nucleotide variantNM_001349338.3(FOXP1):c.1653-6A>Gnot provided [RCV005124571]likely benign37097081170970811Humanname
597890830CV3784803single nucleotide variantNM_001349338.3(FOXP1):c.283-17C>Gnot provided [RCV005125582]likely benign37105379071053790Humanname
597960167CV3797976single nucleotide variantNM_001349338.3(FOXP1):c.421-17C>Anot provided [RCV005138450]likely benign37105264371052643Humanname
597972142CV3829478duplicationNM_001349338.3(FOXP1):c.1890-5dupnot provided [RCV005167265]benign37095939570959396Humanname
597961988CV3840898single nucleotide variantNM_001349338.3(FOXP1):c.1146+7A>Gnot provided [RCV005193191]likely benign37098798770987987Humanname
598121830CV3883460single nucleotide variantNM_001349338.3(FOXP1):c.1063-2A>GNeurodevelopmental abnormality [RCV005235835]pathogenic37098807970988079Human2name
598125055CV3883788single nucleotide variantNM_001349338.3(FOXP1):c.-297-1G>Anot provided [RCV005236143]uncertain significance37149355671493556Humanname
617148467CV4017005single nucleotide variantNM_001349338.3(FOXP1):c.1722+4A>GIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005416152]uncertain significance37097073270970732Human1name
13446223CV438248single nucleotide variantNM_001349338.3(FOXP1):c.1722+1G>Anot provided [RCV000513438]likely pathogenic37097073570970735Humanname
13474978CV443514single nucleotide variantNM_001349338.3(FOXP1):c.1146+5G>CIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003225947]|not provided [RCV000519777]pathogenic|likely pathogenic|uncertain significance37098798970987989Human1name
13509360CV481702single nucleotide variantNM_001349338.3(FOXP1):c.1889+1G>Tnot provided [RCV000579360]pathogenic37096588970965889Humanname
13520603CV495468single nucleotide variantNM_001349338.3(FOXP1):c.1889+5G>Tnot provided [RCV000598768]likely pathogenic37096588570965885Humanname
13794545CV552076single nucleotide variantNM_001349338.3(FOXP1):c.1653-2A>TIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000679990]|not provided [RCV004719942]pathogenic37097080770970807Human1name
13797970CV553168single nucleotide variantNM_001349338.3(FOXP1):c.1652+4C>TInborn genetic diseases [RCV002315988]|Intellectual disability [RCV000681493]|not provided [RCV003106020]likely benign|uncertain significance37097255170972551Human3name
13827742CV578654single nucleotide variantNM_001349338.3(FOXP1):c.1348+1G>CAutism [RCV000714977]pathogenic37097782770977827Human2name
13829465CV579090single nucleotide variantNM_001349338.3(FOXP1):c.1890-4C>TInborn genetic diseases [RCV002315315]|not provided [RCV002534565]likely benign|uncertain significance37095939570959395Human1name
14395617CV611463single nucleotide variantNM_001349338.3(FOXP1):c.1147-2A>GIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000760179]likely pathogenic37097803170978031Human1name
14691320CV621730single nucleotide variantNM_001349338.3(FOXP1):c.1146+1G>CIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000781385]likely pathogenic37098799370987993Human1name
14704199CV651090single nucleotide variantNM_001349338.3(FOXP1):c.1146+1G>Tnot provided [RCV000796761]pathogenic|likely pathogenic37098799370987993Humanname
14979438CV678956single nucleotide variantNM_001349338.3(FOXP1):c.1653-1G>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000851515]pathogenic37097080670970806Human1name
14979441CV678957single nucleotide variantNM_001349338.3(FOXP1):c.1146+1G>AInborn genetic diseases [RCV004973027]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000851517]|not provided [RCV001543488]pathogenic37098799370987993Human2name
15186028CV744128single nucleotide variantNM_001349338.3(FOXP1):c.1428+9A>GFOXP1-related disorder [RCV003932938]|not provided [RCV000908693]benign|likely benign37097763470977634Human1name , alternate_id
15157556CV759240single nucleotide variantNM_001349338.3(FOXP1):c.1531-6C>TFOXP1-related disorder [RCV003913121]|not provided [RCV000924885]likely benign37097268270972682Human1name , alternate_id
15106063CV774860single nucleotide variantNM_001349338.3(FOXP1):c.1428+8A>Gnot provided [RCV000937713]likely benign37097763570977635Humanname
40814518CV969346single nucleotide variantNM_001349338.3(FOXP1):c.1652+5G>CInborn genetic diseases [RCV002541570]|Intellectual disability [RCV001260762]pathogenic|likely pathogenic37097255070972550Human3name
8643137CV102120single nucleotide variantNM_001349338.3(FOXP1):c.1147-19G>Anot provided [RCV002055225]|not specified [RCV000082305]benign37097804870978048Humanname
8643139CV102122single nucleotide variantNM_001349338.3(FOXP1):c.1889+20C>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001701660]|not provided [RCV002055226]|not specified [RCV000082307]benign37096587070965870Human1name
150335831CV1171172single nucleotide variantNM_001349338.3(FOXP1):c.975-231G>Anot provided [RCV001540724]benign37100129071001290Humanname
150330767CV1171173single nucleotide variantNM_001349338.3(FOXP1):c.180+537A>Tnot provided [RCV001538267]benign37119766571197665Humanname
150426119CV1183399single nucleotide variantNM_001349338.3(FOXP1):c.1429-70C>Tnot provided [RCV001558934]likely benign37097711270977112Humanname
150426311CV1186669single nucleotide variantNM_001349338.3(FOXP1):c.1722+63A>Gnot provided [RCV001559409]likely benign37097067370970673Humanname
150428502CV1186670single nucleotide variantNM_001349338.3(FOXP1):c.282+211T>Cnot provided [RCV001562346]likely benign37111232571112325Humanname
150426854CV1186671single nucleotide variantNM_001349338.3(FOXP1):c.180+289C>Tnot provided [RCV001560124]likely benign37119791371197913Humanname
150409460CV1190101single nucleotide variantNM_001349338.3(FOXP1):c.511-248G>Cnot provided [RCV001565675]likely benign37104734371047343Humanname
150408759CV1190102single nucleotide variantNM_001349338.3(FOXP1):c.510+108T>Cnot provided [RCV001565435]likely benign37105242971052429Humanname
150415945CV1197140single nucleotide variantNM_001349338.3(FOXP1):c.869+134G>Anot provided [RCV001575621]likely benign37104119471041194Humanname
150476259CV1203012single nucleotide variantNM_001349338.3(FOXP1):c.181-262T>Cnot provided [RCV001589606]likely benign37111289971112899Humanname
150438906CV1221232single nucleotide variantNM_001349338.3(FOXP1):c.181-321C>Gnot provided [RCV001609926]benign37111295871112958Humanname
150517510CV1226960single nucleotide variantNM_001349338.3(FOXP1):c.664+264C>Tnot provided [RCV001640056]benign37104667871046678Humanname
150511149CV1229370single nucleotide variantNM_001349338.3(FOXP1):c.181-213C>Tnot provided [RCV001637298]benign37111285071112850Humanname
150451471CV1232806single nucleotide variantNM_001349338.3(FOXP1):c.1530+45A>Gnot provided [RCV001647881]benign37097689670976896Humanname
150492145CV1253879single nucleotide variantNM_001349338.3(FOXP1):c.974+133G>Anot provided [RCV001674975]benign37101541671015416Humanname
150470436CV1258585single nucleotide variantNM_001349338.3(FOXP1):c.420+243A>Gnot provided [RCV001684130]benign37105339371053393Humanname
150442225CV1264398single nucleotide variantNM_001349338.3(FOXP1):c.180+435G>Anot provided [RCV001679381]benign37119776771197767Humanname
150442326CV1266211single nucleotide variantNM_001349338.3(FOXP1):c.283-212A>Gnot provided [RCV001690647]benign37105398571053985Humanname
150478508CV1271070single nucleotide variantNM_001349338.3(FOXP1):c.1428+90G>Cnot provided [RCV001696506]benign37097755370977553Humanname
150475142CV1278998single nucleotide variantNM_001349338.3(FOXP1):c.974+269A>Tnot provided [RCV001713798]benign37101528071015280Human3name
152127152CV1581016single nucleotide variantNM_001349338.3(FOXP1):c.1348+15T>Gnot provided [RCV002098976]likely benign37097781370977813Humanname
152162395CV1584809single nucleotide variantNM_001349338.3(FOXP1):c.1722+15C>Tnot provided [RCV002123438]likely benign37097072170970721Humanname
152122583CV1613427single nucleotide variantNM_001349338.3(FOXP1):c.1722+16G>Anot provided [RCV002154448]benign37097072070970720Humanname
152103913CV1645374single nucleotide variantNM_001349338.3(FOXP1):c.1652+12A>Gnot provided [RCV002133608]likely benign37097254370972543Humanname
156182949CV1954813single nucleotide variantNM_001349338.3(FOXP1):c.1428+16A>Gnot provided [RCV002574172]likely benign37097762770977627Humanname
156328095CV1956507single nucleotide variantNM_001349338.3(FOXP1):c.1147-13T>Cnot provided [RCV002579838]likely benign37097804270978042Humanname
156149553CV1964204single nucleotide variantNM_001349338.3(FOXP1):c.1147-17T>Cnot provided [RCV002572853]likely benign37097804670978046Humanname
156193960CV1970825single nucleotide variantNM_001349338.3(FOXP1):c.1428+15C>Tnot provided [RCV002625507]likely benign37097762870977628Humanname
156069750CV1971747single nucleotide variantNM_001349338.3(FOXP1):c.1530+15G>Anot provided [RCV002591236]likely benign37097692670976926Humanname
156119005CV1972965duplicationNM_001349338.3(FOXP1):c.1146+12dupnot provided [RCV002593055]likely benign37098798170987982Humanname
156261189CV1977554single nucleotide variantNM_001349338.3(FOXP1):c.1890-17C>Tnot provided [RCV002597787]benign37095940870959408Humanname
156326267CV1980606single nucleotide variantNM_001349338.3(FOXP1):c.1147-20C>Tnot provided [RCV002630670]likely benign37097804970978049Humanname
156256932CV1981960single nucleotide variantNM_001349338.3(FOXP1):c.1146+19C>Tnot provided [RCV002646083]likely benign37098797570987975Humanname
156011439CV1985941single nucleotide variantNM_001349338.3(FOXP1):c.1146+14C>Tnot provided [RCV002636244]benign37098798070987980Humanname
156228646CV1991692single nucleotide variantNM_001349338.3(FOXP1):c.1429-18T>Cnot provided [RCV002626711]likely benign37097706070977060Humanname
156091908CV1994394single nucleotide variantNM_001349338.3(FOXP1):c.1722+11C>Tnot provided [RCV002639251]likely benign37097072570970725Humanname
156337749CV1997331single nucleotide variantNM_001349338.3(FOXP1):c.1530+16C>Gnot provided [RCV002650157]likely benign37097692570976925Humanname
156342974CV1998364single nucleotide variantNM_001349338.3(FOXP1):c.1147-11T>Cnot provided [RCV002650417]likely benign37097804070978040Humanname
156354958CV2008800single nucleotide variantNM_001349338.3(FOXP1):c.1349-17C>Tnot provided [RCV002720457]likely benign37097773970977739Humanname
155972368CV2021661single nucleotide variantNM_001349338.3(FOXP1):c.1428+11A>Cnot provided [RCV002754952]likely benign37097763270977632Humanname
156377995CV2024920single nucleotide variantNM_001349338.3(FOXP1):c.1428+17G>Anot provided [RCV002722084]likely benign37097762670977626Humanname
156286506CV2061901single nucleotide variantNM_001349338.3(FOXP1):c.1348+14C>Tnot provided [RCV002833027]likely benign37097781470977814Humanname
156180653CV2068443single nucleotide variantNM_001349338.3(FOXP1):c.1530+14G>Anot provided [RCV002851825]likely benign37097692770976927Humanname
156089379CV2092281single nucleotide variantNM_001349338.3(FOXP1):c.1348+14C>Gnot provided [RCV002912983]likely benign37097781470977814Humanname
156359792CV2126360single nucleotide variantNM_001349338.3(FOXP1):c.1429-19G>Cnot provided [RCV002966906]likely benign37097706170977061Humanname
156161399CV2147405single nucleotide variantNM_001349338.3(FOXP1):c.1530+12C>Tnot provided [RCV003023206]likely benign37097692970976929Humanname
156060399CV2155029single nucleotide variantNM_001349338.3(FOXP1):c.1429-11C>Gnot provided [RCV003000182]likely benign37097705370977053Humanname
156015783CV2177461single nucleotide variantNM_001349338.3(FOXP1):c.1428+20T>Cnot provided [RCV003035476]likely benign37097762370977623Humanname
156400113CV2186002single nucleotide variantNM_001349338.3(FOXP1):c.1889+11T>Cnot provided [RCV003052230]likely benign37096587970965879Humanname
329352798CV2476911single nucleotide variantNM_001349338.3(FOXP1):c.869+943G>Cnot provided [RCV003223143]likely benign37104038571040385Humanname
329952716CV2670058single nucleotide variantNM_001349338.3(FOXP1):c.180+200C>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003233270]not provided37119800271198002Humanname
401922302CV2827557single nucleotide variantNM_001349338.3(FOXP1):c.180+262T>Gnot provided [RCV003433666]uncertain significance37119794071197940Humanname
401922303CV2827558single nucleotide variantNM_001349338.3(FOXP1):c.180+230T>Cnot provided [RCV003433667]likely benign37119797271197972Humanname
402483197CV2860762single nucleotide variantNM_001349338.3(FOXP1):c.1146+13C>Gnot provided [RCV003544226]likely benign37098798170987981Humanname
405091677CV2878094deletionNM_001349338.3(FOXP1):c.1062+14delnot provided [RCV003549946]likely benign37100095871000958Humanname
405202316CV2918868single nucleotide variantNM_001349338.3(FOXP1):c.1147-10T>Cnot provided [RCV003566068]likely benign37097803970978039Humanname
11646639CV292726microsatelliteNM_001349338.3(FOXP1):c.*3415CG[4]Intellectual Disability with Language Impairment and Autistic Features [RCV000272113]uncertain significance37095582670955827Humanname
11591678CV292835single nucleotide variantNM_001349338.3(FOXP1):c.1890-15G>Tnot provided [RCV001696354]benign37095940670959406Humanname
405144066CV2946088single nucleotide variantNM_001349338.3(FOXP1):c.1722+20C>Tnot provided [RCV003669515]likely benign37097071670970716Humanname
11661955CV296052microsatelliteNM_001349338.3(FOXP1):c.*3417TG[3]Intellectual Disability with Language Impairment and Autistic Features [RCV000381718]uncertain significance37095583070955831Humanname
11598489CV296146microsatelliteNM_001349338.3(FOXP1):c.*2202GA[1]Intellectual Disability with Language Impairment and Autistic Features [RCV000406398]uncertain significance37095704270957043Humanname
11595730CV296149single nucleotide variantNM_001349338.3(FOXP1):c.1722+12G>Anot provided [RCV002138423]benign|likely benign37097072470970724Humanname
405187112CV2964143single nucleotide variantNM_001349338.3(FOXP1):c.1890-16T>Cnot provided [RCV003676855]likely benign37095940770959407Humanname
405214879CV2981522single nucleotide variantNM_001349338.3(FOXP1):c.1349-20G>Tnot provided [RCV003709183]likely benign37097774270977742Humanname
405095960CV3019151single nucleotide variantNM_001349338.3(FOXP1):c.1723-14T>Gnot provided [RCV003700090]likely benign37096607070966070Humanname
402506198CV3039121single nucleotide variantNM_001349338.3(FOXP1):c.1348+19G>Cnot provided [RCV003715223]likely benign37097780970977809Humanname
405086599CV3133969single nucleotide variantNM_001349338.3(FOXP1):c.1530+13A>Gnot provided [RCV003834507]likely benign37097692870976928Humanname
405148659CV3141969single nucleotide variantNM_001349338.3(FOXP1):c.1429-20T>Cnot provided [RCV003839891]likely benign37097706270977062Humanname
405226640CV3142558single nucleotide variantNM_001349338.3(FOXP1):c.1653-17A>Cnot provided [RCV003848097]likely benign37097082270970822Humanname
405047828CV3150733single nucleotide variantNM_001349338.3(FOXP1):c.1146+13C>Anot provided [RCV003849336]likely benign37098798170987981Humanname
405205173CV3165639single nucleotide variantNM_001349338.3(FOXP1):c.1890-10T>Anot provided [RCV003861305]likely benign37095940170959401Humanname
405212023CV3173478single nucleotide variantNM_001349338.3(FOXP1):c.1653-17A>Gnot provided [RCV003862227]likely benign37097082270970822Humanname
405269187CV3187238single nucleotide variantNM_001349338.3(FOXP1):c.180+212G>Anot provided [RCV003887322]uncertain significance37119799071197990Humanname
405288827CV3209928single nucleotide variantNM_001349338.3(FOXP1):c.180+209T>CFOXP1-related disorder [RCV003961419]likely benign37119799371197993Humanname , trait , alternate_id
597669534CV3669802single nucleotide variantNM_001349338.3(FOXP1):c.180+239G>AInborn genetic diseases [RCV004980075]likely benign37119796371197963Human1name
597966037CV3751483single nucleotide variantNM_001349338.3(FOXP1):c.1063-18G>Anot provided [RCV005082852]likely benign37098809570988095Humanname
597949292CV3759324single nucleotide variantNM_001349338.3(FOXP1):c.1429-14A>Cnot provided [RCV005079121]likely benign37097705670977056Humanname
597919593CV3811669single nucleotide variantNM_001349338.3(FOXP1):c.1723-13T>Cnot provided [RCV005155500]likely benign37096606970966069Humanname
597862529CV3813916single nucleotide variantNM_001349338.3(FOXP1):c.1722+15C>Gnot provided [RCV005146985]likely benign37097072170970721Humanname
597862424CV3822659single nucleotide variantNM_001349338.3(FOXP1):c.1147-13T>Gnot provided [RCV005175190]likely benign37097804270978042Humanname
597972158CV3829487single nucleotide variantNM_001349338.3(FOXP1):c.1146+16C>Tnot provided [RCV005167274]likely benign37098797870987978Humanname
597911781CV3850574single nucleotide variantNM_001349338.3(FOXP1):c.1530+17C>Anot provided [RCV005203723]likely benign37097692470976924Humanname
616933539CV4013647deletionNM_001349338.3(FOXP1):c.180+147delIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005411146]likely pathogenic37119805571198055Human1name
13462578CV438838single nucleotide variantNM_001349338.3(FOXP1):c.1146+19C>Gnot provided [RCV000514403]benign|likely benign37098797570987975Humanname
150333937CV1169009single nucleotide variantNM_001349338.3(FOXP1):c.1146+151T>Cnot provided [RCV001537543]benign37098784370987843Humanname
150412335CV1176393single nucleotide variantNM_001349338.3(FOXP1):c.1652+839C>Gnot provided [RCV001547496]likely benign37097171670971716Humanname
150419312CV1179767single nucleotide variantNM_001349338.3(FOXP1):c.1428+173A>Gnot provided [RCV001550992]likely benign37097747070977470Humanname
150428722CV1186668single nucleotide variantNM_001349338.3(FOXP1):c.1890-137G>Anot provided [RCV001562643]likely benign37095952870959528Humanname
150413666CV1190099single nucleotide variantNM_001349338.3(FOXP1):c.1062+265G>Anot provided [RCV001567272]likely benign37100070771000707Humanname
150420873CV1193380single nucleotide variantNM_001349338.3(FOXP1):c.1722+179C>Tnot provided [RCV001570306]likely benign37097055770970557Humanname
150474109CV1217744single nucleotide variantNM_001349338.3(FOXP1):c.1722+137A>Gnot provided [RCV001615755]benign37097059970970599Human1name
150510599CV1242437single nucleotide variantNM_001349338.3(FOXP1):c.1889+149A>Gnot provided [RCV001660787]benign37096574170965741Humanname
150446633CV1261392single nucleotide variantNM_001349338.3(FOXP1):c.1530+157G>Anot provided [RCV001680066]benign37097678470976784Humanname
150476748CV1262403single nucleotide variantNM_001349338.3(FOXP1):c.1652+806A>Cnot provided [RCV001685215]benign37097174970971749Humanname
150497946CV1281659single nucleotide variantNM_001349338.3(FOXP1):c.1889+205A>Gnot provided [RCV001717933]benign37096568570965685Humanname
151350112CV1324598single nucleotide variantNM_001349338.3(FOXP1):c.1147-350G>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001809043]uncertain significance37097837970978379Human1name
153001015CV1684048single nucleotide variantNM_001349338.3(FOXP1):c.1652+418G>AIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002254898]uncertain significance37097213770972137Human1name
155798197CV1861901duplicationNM_001349338.3(FOXP1):c.1652+546dupIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002471304]uncertain significance37097200870972009Human1name
155958826CV1936415single nucleotide variantNM_001349338.3(FOXP1):c.1652+540G>AFOXP1-related disorder [RCV003961061]|not provided [RCV002512230]benign|likely benign37097201570972015Human1name , alternate_id
401926470CV2827555single nucleotide variantNM_001349338.3(FOXP1):c.1652+515C>Tnot provided [RCV003437907]likely benign37097204070972040Humanname
401922301CV2827556single nucleotide variantNM_001349338.3(FOXP1):c.1652+436G>Anot provided [RCV003433665]uncertain significance37097211970972119Humanname
11635360CV291487microsatelliteNM_001349338.3(FOXP1):c.*3391TG[16]Intellectual Disability with Language Impairment and Autistic Features [RCV000338746]uncertain significance37095583270955833Humanname
11651267CV292730microsatelliteNM_001349338.3(FOXP1):c.*3391TG[11]Intellectual Disability with Language Impairment and Autistic Features [RCV000298105]|not provided [RCV004695762]uncertain significance37095583370955834Humanname
11635713CV292742microsatelliteNM_001349338.3(FOXP1):c.*3391TG[13]Intellectual Disability with Language Impairment and Autistic Features [RCV000387309]|not provided [RCV004695760]uncertain significance37095583270955833Humanname
11591981CV296054microsatelliteNM_001349338.3(FOXP1):c.*3391TG[10]Intellectual Disability with Language Impairment and Autistic Features [RCV000334331]|not provided [RCV003221944]likely benign|conflicting interpretations of pathogenicity|uncertain significance37095583370955836Humanname
11634971CV296066microsatelliteNM_001349338.3(FOXP1):c.*3391TG[14]Intellectual Disability with Language Impairment and Autistic Features [RCV000293087]|not provided [RCV004695761]uncertain significance37095583270955833Humanname
11635623CV296156duplicationNM_032682.6(FOXP1):c.*1352_*1355dupIntellectual Disability with Language Impairment and Autistic Features [RCV000376707]likely benign37095789170957892Humanname
405255924CV3208450single nucleotide variantNM_001349338.3(FOXP1):c.1652+380C>GFOXP1-related disorder [RCV003939546]likely benign37097217570972175Humanname , trait , alternate_id
407426443CV3409948single nucleotide variantNM_001349338.3(FOXP1):c.1652+489C>Gnot provided [RCV004585880]uncertain significance37097206670972066Humanname
12849646CV363694single nucleotide variantNM_001349338.3(FOXP1):c.1652+403A>GFOXP1-related disorder [RCV003902463]|not provided [RCV000433534]benign|likely benign37097215270972152Human1name , alternate_id
150404880CV1189399single nucleotide variantNM_001349338.3(FOXP1):c.181-18031T>CDisorder of sexual differentiation [RCV001564027]uncertain significance37113066871130668Human1name
150466965CV1255828single nucleotide variantNM_001349338.3(FOXP1):c.181-18054A>Gnot provided [RCV001670462]benign37113069171130691Humanname
10449915CV215294single nucleotide variantNM_001349338.3(FOXP1):c.181-17952C>Tnot provided [RCV004692812]|not specified [RCV000203107]uncertain significance37113058971130589Humanname
401924402CV2801021single nucleotide variantNM_001349338.3(FOXP1):c.181-17860G>CFOXP1-related disorder [RCV003404610]uncertain significance37113049771130497Humanname , trait , alternate_id
11663075CV291547deletionNM_001349338.3(FOXP1):c.*510_*511delIntellectual Disability with Language Impairment and Autistic Features [RCV000391958]uncertain significance37095873670958737Human1name
11651990CV291551deletionNM_001349338.3(FOXP1):c.*479_*480delIntellectual Disability with Language Impairment and Autistic Features [RCV000302088]uncertain significance37095876770958768Human1name
11634887CV292791duplicationNM_001349338.3(FOXP1):c.*923_*928dupIntellectual Disability with Language Impairment and Autistic Features [RCV000288860]benign37095831870958319Human1name
11662736CV296160duplicationNM_001349338.3(FOXP1):c.*740_*743dupIntellectual Disability with Language Impairment and Autistic Features [RCV000389152]uncertain significance37095850370958504Human1name
11598371CV296165deletionNM_001349338.3(FOXP1):c.*507_*509delIntellectual Disability with Language Impairment and Autistic Features [RCV000404636]uncertain significance37095873870958740Human1name
405280287CV3193941single nucleotide variantNM_001349338.3(FOXP1):c.181-18007C>GFOXP1-related disorder [RCV003983444]uncertain significance37113064471130644Humanname , trait , alternate_id
405272330CV3198604single nucleotide variantNM_001349338.3(FOXP1):c.181-17970A>GFOXP1-related disorder [RCV003903931]benign37113060771130607Humanname , trait , alternate_id
405276012CV3215222single nucleotide variantNM_001349338.3(FOXP1):c.181-17966G>AFOXP1-related disorder [RCV003942261]likely benign37113060371130603Humanname , trait , alternate_id
405266022CV3220993single nucleotide variantNM_001349338.3(FOXP1):c.181-17892G>AFOXP1-related disorder [RCV003969136]likely benign37113052971130529Humanname , trait , alternate_id
405704123CV3225004single nucleotide variantNM_001349338.3(FOXP1):c.282+16777A>GIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003989960]uncertain significance37109575971095759Human1name
405699482CV3227167single nucleotide variantNM_001349338.3(FOXP1):c.-11-36045A>CIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003993518]uncertain significance37123443771234437Human1name
597870884CV3768242deletionNM_001349338.3(FOXP1):c.511-6_511delnot provided [RCV005122621]likely pathogenic37104709571047101Humanname
13704813CV538978single nucleotide variantNM_001349338.3(FOXP1):c.181-17916C>TIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000662040]uncertain significance37113055371130553Human1name
153301080CV1688924single nucleotide variantNM_001349338.3(FOXP1):c.-297-21308G>TIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002266652]uncertain significance37151486371514863Human1name
11590792CV291540microsatelliteNM_001349338.3(FOXP1):c.*1027CTTTT[2]Intellectual Disability with Language Impairment and Autistic Features [RCV000322605]uncertain significance37095820670958210Humanname
150542257CV1303572microsatelliteNM_001349338.3(FOXP1):c.665-7_665-4delnot provided [RCV001769262]conflicting interpretations of pathogenicity|uncertain significance37104153671041539Humanname
155799589CV1862552duplicationNM_001349338.3(FOXP1):c.1147-1_1161dupIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002471959]pathogenic37097801470978015Human1name
156293881CV2166400deletionNM_001349338.3(FOXP1):c.1643_1652+3delnot provided [RCV003045252]likely pathogenic37097255270972564Humanname
11657480CV291506deletionNM_001349338.3(FOXP1):c.*2473_*2482delIntellectual Disability with Language Impairment and Autistic Features [RCV000341763]uncertain significance37095676570956774Human1name
11664575CV291528duplicationNM_001349338.3(FOXP1):c.*1231_*1235dupIntellectual Disability with Language Impairment and Autistic Features [RCV000407204]|not provided [RCV003430887]benign|uncertain significance37095801170958012Human1name
11658904CV291536duplicationNM_001349338.3(FOXP1):c.*1049_*1050dupIntellectual Disability with Language Impairment and Autistic Features [RCV000353006]|not provided [RCV004695765]uncertain significance37095819670958197Human1name
11659501CV292780deletionNM_001349338.3(FOXP1):c.*1037_*1040delIntellectual Disability with Language Impairment and Autistic Features [RCV000358732]uncertain significance37095820770958210Human1name
11655797CV292786duplicationNM_001349338.3(FOXP1):c.*1027_*1030dupIntellectual Disability with Language Impairment and Autistic Features [RCV000328562]uncertain significance37095821670958217Human1name
13210888CV424647deletionNM_001349338.3(FOXP1):c.1349-5_1350delIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000496125]pathogenic37097772170977727Human1name
13521478CV495197deletionNM_001349338.3(FOXP1):c.1717_1722+5delnot provided [RCV000599485]pathogenic37097073170970741Humanname
13837790CV589083deletionNM_001349338.3(FOXP1):c.1710_1722+2delnot provided [RCV000734311]likely pathogenic37097073470970748Humanname
21074970CV798537deletionNM_001349338.3(FOXP1):c.1426_1428+1delIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000995770]pathogenic|likely pathogenic37097764270977645Human1name
40887772CV973386duplicationNM_001349338.3(FOXP1):c.1531-9_1534dupInborn genetic diseases [RCV001267364]pathogenic|uncertain significance37097267270972673Human1name
40903307CV975857deletionNM_001349338.3(FOXP1):c.1718_1722+8delIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001269289]pathogenic37097072870970740Human1name
156318184CV2111796duplicationNM_001349338.3(FOXP1):c.1709_1722+10dupnot provided [RCV002937582]likely benign37097072570970726Humanname
401830802CV2748305single nucleotide variantNM_001349338.3(FOXP1):c.18G>T (p.Gly6=)not provided [RCV003329914]uncertain significance37119836471198364Humanname
405064983CV2927439duplicationNM_001349338.3(FOXP1):c.1653-18_1668dupnot provided [RCV003580751]uncertain significance37097078970970790Humanname
11652639CV296080insertionNM_001349338.3(FOXP1):c.*3677_*3678insAIntellectual Disability with Language Impairment and Autistic Features [RCV000306081]uncertain significance37095556970955570Human1name
408385372CV3520163duplicationNM_001349338.3(FOXP1):c.1640_1652+22dupnot provided [RCV004759984]uncertain significance37097253270972533Humanname
597647197CV3551567duplicationNM_001349338.3(FOXP1):c.1147-25_1161dupIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004819944]uncertain significance37097801470978015Human1name
150417051CV1197139microsatelliteNM_001349338.3(FOXP1):c.1062+128ATTTT[9]not provided [RCV001576136]likely benign37100079571000799Humanname
152069520CV1562405duplicationNM_001349338.3(FOXP1):c.1890-8_1890-5dupnot provided [RCV002169113]likely benign37095939570959396Humanname
156400271CV1897543single nucleotide variantNM_001349338.3(FOXP1):c.90C>T (p.Gly30=)FOXP1-related disorder [RCV004750821]|not provided [RCV002584799]likely benign37119829271198292Human1name , alternate_id
11598246CV291485microsatelliteNM_032682.6(FOXP1):c.*4349_*4353TTTTG[4]Intellectual Disability with Language Impairment and Autistic Features [RCV000403311]likely benign37095487470954878Humanname
11635868CV291486insertionNM_001349338.3(FOXP1):c.*3414GT[2]GCG[1]Intellectual Disability with Language Impairment and Autistic Features [RCV000407646]uncertain significance37095583270955833Human1name
11592546CV292837single nucleotide variantNM_032682.6(FOXP1):c.1239C>T (p.Pro413=)Intellectual Disability with Language Impairment and Autistic Features [RCV000339689]uncertain significance37097793770977937Humanname
405202646CV3052662single nucleotide variantNM_001349338.3(FOXP1):c.78A>G (p.Leu26=)not provided [RCV003730933]likely benign37119830471198304Humanname
405215352CV3124564single nucleotide variantNM_001349338.3(FOXP1):c.51G>A (p.Gln17=)not provided [RCV003823926]likely benign37119833171198331Humanname
405229426CV3180446single nucleotide variantNM_001349338.3(FOXP1):c.87C>T (p.Cys29=)not provided [RCV003864867]likely benign37119829571198295Humanname
405289129CV3218111single nucleotide variantNM_001349338.3(FOXP1):c.90C>G (p.Gly30=)FOXP1-related disorder [RCV003983513]|not provided [RCV005064924]likely benign37119829271198292Human1name , alternate_id
597892888CV3763391single nucleotide variantNM_001349338.3(FOXP1):c.60G>A (p.Ser20=)not provided [RCV005110971]likely benign37119832271198322Humanname
616936472CV4016316duplicationNM_001349338.3(FOXP1):c.1723-6_1723-3dupnot provided [RCV005415182]uncertain significance37096605870966059Humanname
13216608CV428220single nucleotide variantNM_001349338.3(FOXP1):c.63C>T (p.Gly21=)not provided [RCV001726200]|not specified [RCV000503884]likely benign37119831971198319Humanname
15201136CV748515single nucleotide variantNM_001349338.3(FOXP1):c.79C>T (p.Leu27=)FOXP1-related disorder [RCV003950775]|not provided [RCV000913050]likely benign37119830371198303Human1name , alternate_id
40887728CV972931single nucleotide variantNM_001349338.3(FOXP1):c.8A>G (p.Gln3Arg)Inborn genetic diseases [RCV005340737]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001265466]|not provided [RCV003770379]likely benign|uncertain significance37119837471198374Human2name
150424961CV1183400microsatelliteNM_001349338.3(FOXP1):c.1062+128ATTTT[14]not provided [RCV001557361]likely benign37100079471000795Humanname
150408949CV1190100microsatelliteNM_001349338.3(FOXP1):c.1062+128ATTTT[15]not provided [RCV001565504]likely benign37100079471000795Humanname
150452100CV1205480single nucleotide variantNM_001349338.3(FOXP1):c.288C>T (p.Pro96=)not provided [RCV001585380]likely benign37105376871053768Humanname
150480499CV1221981microsatelliteNM_001349338.3(FOXP1):c.1062+128ATTTT[13]not provided [RCV001616778]benign37100079471000795Humanname
150443313CV1264579microsatelliteNM_001349338.3(FOXP1):c.1062+128ATTTT[11]not provided [RCV001679563]benign37100079471000795Humanname
150477180CV1279402microsatelliteNM_001349338.3(FOXP1):c.1062+128ATTTT[12]not provided [RCV001714095]benign37100079471000795Humanname
156223248CV1879438deletionNM_001349338.3(FOXP1):c.1428+9_1428+12delnot provided [RCV003059027]likely benign37097763170977634Humanname
155984752CV1907462single nucleotide variantNM_001349338.3(FOXP1):c.174G>A (p.Gln58=)not provided [RCV003097550]likely benign37119820871198208Humanname
156219567CV1960104single nucleotide variantNM_001349338.3(FOXP1):c.138C>T (p.Ile46=)not provided [RCV002575472]likely benign37119824471198244Humanname
155971977CV1978480single nucleotide variantNM_001349338.3(FOXP1):c.159C>T (p.His53=)not provided [RCV002617224]likely benign37119822371198223Humanname
156349729CV2001133single nucleotide variantNM_001349338.3(FOXP1):c.270A>G (p.Gln90=)not provided [RCV002675505]likely benign37111254871112548Humanname
156349656CV2005567single nucleotide variantNM_001349338.3(FOXP1):c.246A>G (p.Lys82=)not provided [RCV002650789]likely benign37111257271112572Humanname
156061315CV2044859single nucleotide variantNM_001349338.3(FOXP1):c.141G>A (p.Gly47=)not provided [RCV002736848]likely benign37119824171198241Humanname
10403506CV207090single nucleotide variantNM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)FOXP1-related disorder [RCV003401052]|not provided [RCV000880214]|not specified [RCV000192698]benign|conflicting interpretations of pathogenicity|uncertain significance37119836971198369Human1name , alternate_id
156039212CV2089551single nucleotide variantNM_001349338.3(FOXP1):c.108G>A (p.Arg36=)not provided [RCV002867371]likely benign37119827471198274Humanname
243053482CV2410202duplicationNM_001349338.3(FOXP1):c.1653-19_1653-2dupIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144088]|not provided [RCV003778880]likely benign|uncertain significance37097080670970807Human1name
329953189CV2669901single nucleotide variantNM_001349338.3(FOXP1):c.291G>A (p.Val97=)not provided [RCV003234525]uncertain significance37105376571053765Humanname
405119042CV2955941single nucleotide variantNM_001349338.3(FOXP1):c.105G>A (p.Gly35=)not provided [RCV003671265]likely benign37119827771198277Humanname
11595285CV296154single nucleotide variantNM_001349338.3(FOXP1):c.216G>A (p.Gln72=)FOXP1-related disorder [RCV003963570]|not provided [RCV003050696]likely benign|uncertain significance37111260271112602Human1name , alternate_id
405148434CV2962924single nucleotide variantNM_001349338.3(FOXP1):c.129C>A (p.Ala43=)not provided [RCV003673825]likely benign37119825371198253Humanname
405203612CV2986145single nucleotide variantNM_001349338.3(FOXP1):c.171G>A (p.Gln57=)not provided [RCV003678452]likely benign37119821171198211Humanname
405131664CV3021859single nucleotide variantNM_001349338.3(FOXP1):c.26C>A (p.Thr9Lys)not provided [RCV003701751]uncertain significance37119835671198356Humanname
405072155CV3034324single nucleotide variantNM_001349338.3(FOXP1):c.153C>T (p.Leu51=)not provided [RCV003698281]likely benign37119822971198229Humanname
405212968CV3127573single nucleotide variantNM_001349338.3(FOXP1):c.162C>T (p.Ala54=)not provided [RCV003823621]likely benign37119822071198220Humanname
404985996CV3135386single nucleotide variantNM_001349338.3(FOXP1):c.129C>T (p.Ala43=)not provided [RCV003826681]likely benign37119825371198253Humanname
405761973CV3250708single nucleotide variantNM_001349338.3(FOXP1):c.22G>C (p.Glu8Gln)Inborn genetic diseases [RCV004394414]uncertain significance37119836071198360Human1name
597958438CV3751858duplicationNM_001349338.3(FOXP1):c.1653-44_1653-4dupnot provided [RCV005080987]uncertain significance37097080870970809Humanname
617150220CV4016926single nucleotide variantNM_001349338.3(FOXP1):c.14C>A (p.Ser5Tyr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005416022]uncertain significance37119836871198368Human1name
13214894CV428219single nucleotide variantNM_001349338.3(FOXP1):c.126G>A (p.Pro42=)not provided [RCV003766819]|not specified [RCV000501836]likely benign37119825671198256Humanname
13828418CV579000single nucleotide variantNM_001349338.3(FOXP1):c.114C>T (p.Asn38=)Inborn genetic diseases [RCV002312430]|not provided [RCV003698811]likely benign37119826871198268Human1name
13830308CV579071single nucleotide variantNM_001349338.3(FOXP1):c.123G>A (p.Thr41=)FOXP1-related disorder [RCV003980354]|Inborn genetic diseases [RCV002317420]|not provided [RCV000966875]benign|likely benign37119825971198259Human2name , alternate_id
13830146CV579085single nucleotide variantNM_001349338.3(FOXP1):c.135C>T (p.Asp45=)Inborn genetic diseases [RCV002316763]likely benign37119824771198247Human1name
14395627CV611462deletionNM_001349338.3(FOXP1):c.1429-13_1429-3delIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000760189]likely pathogenic37097704570977055Human1name
126759710CV1004964single nucleotide variantNM_001349338.3(FOXP1):c.88G>A (p.Gly30Ser)not provided [RCV001318134]uncertain significance37119829471198294Humanname
127261646CV1087322single nucleotide variantNM_001349338.3(FOXP1):c.34A>T (p.Asn12Tyr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001420541]uncertain significance37119834871198348Human1name
150423893CV1183401single nucleotide variantNM_001349338.3(FOXP1):c.888C>T (p.His296=)not provided [RCV001555934]likely benign37101563571015635Humanname
150434216CV1243895single nucleotide variantNM_001349338.3(FOXP1):c.444A>G (p.Lys148=)not provided [RCV001665102]likely benign37105260371052603Humanname
151356072CV1328836single nucleotide variantNM_001349338.3(FOXP1):c.450A>G (p.Gln150=)not provided [RCV002542651]|not specified [RCV001822425]likely benign37105259771052597Humanname
8659611CV134553single nucleotide variantNM_001349338.3(FOXP1):c.98G>C (p.Arg33Pro)not specified [RCV000117092]likely benign37119828471198284Humanname
151874407CV1408391single nucleotide variantNM_001349338.3(FOXP1):c.98G>A (p.Arg33Gln)not provided [RCV001906888]uncertain significance37119828471198284Humanname
152036562CV1617717duplicationNM_001349338.3(FOXP1):c.1531-18_1531-15dupnot provided [RCV002125429]likely benign37097269070972691Humanname
152157132CV1630476single nucleotide variantNM_001349338.3(FOXP1):c.627C>T (p.Pro209=)not provided [RCV002122561]likely benign37104697971046979Humanname
153001969CV1682751deletionNM_001349338.3(FOXP1):c.1653-31_1653-26delnot provided [RCV002251830]likely pathogenic37097083170970836Humanname
153301172CV1689018single nucleotide variantNM_001349338.3(FOXP1):c.38G>T (p.Gly13Val)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002266746]uncertain significance37119834471198344Human1name
153349833CV1693127single nucleotide variantNM_001349338.3(FOXP1):c.321C>T (p.Ile107=)not provided [RCV002276264]conflicting interpretations of pathogenicity|uncertain significance37105373571053735Humanname
155718095CV1772102single nucleotide variantNM_001349338.3(FOXP1):c.76T>A (p.Leu26Ile)not provided [RCV002296579]uncertain significance37119830671198306Humanname
9688673CV177724deletionNM_001349338.3(FOXP1):c.1146+10_1146+12delFOXP1-related disorder [RCV003917501]|not provided [RCV000969014]|not specified [RCV000153268]benign|likely benign37098798270987984Human1name , alternate_id
155695597CV1793872single nucleotide variantNM_001349338.3(FOXP1):c.399G>A (p.Gln133=)Inborn genetic diseases [RCV002357785]likely benign37105365771053657Human1name
155679968CV1807101single nucleotide variantNM_001349338.3(FOXP1):c.585C>T (p.His195=)Inborn genetic diseases [RCV002353390]|not provided [RCV003096898]likely benign37104702171047021Human1name
155707404CV1817053single nucleotide variantNM_001349338.3(FOXP1):c.825C>T (p.Ala275=)Inborn genetic diseases [RCV002430177]|not provided [RCV003099888]likely benign37104137271041372Human1name
155691753CV1821464single nucleotide variantNM_001349338.3(FOXP1):c.948G>A (p.Val316=)Inborn genetic diseases [RCV002374086]likely benign37101557571015575Human1name
156091590CV1919767single nucleotide variantNM_001349338.3(FOXP1):c.37G>A (p.Gly13Ser)not provided [RCV002591932]uncertain significance37119834571198345Humanname
156317525CV1920775single nucleotide variantNM_001349338.3(FOXP1):c.918T>C (p.Gly306=)not provided [RCV002600035]likely benign37101560571015605Humanname
10052860CV195435single nucleotide variantNM_001349338.3(FOXP1):c.64G>A (p.Gly22Ser)not provided [RCV000179547]uncertain significance37119831871198318Humanname
156174436CV1968518single nucleotide variantNM_001349338.3(FOXP1):c.582G>A (p.Gln194=)not provided [RCV002594871]likely benign37104702471047024Humanname
156216423CV1980325single nucleotide variantNM_001349338.3(FOXP1):c.966A>T (p.Ser322=)not provided [RCV002626280]likely benign37101555771015557Humanname
156126581CV1993032single nucleotide variantNM_001349338.3(FOXP1):c.29A>G (p.Lys10Arg)not provided [RCV002623149]likely benign37119835371198353Humanname
156090976CV1994327duplicationNM_001349338.3(FOXP1):c.1147-16_1147-12dupnot provided [RCV002639219]likely benign37097804070978041Humanname
156405437CV1994396single nucleotide variantNM_001349338.3(FOXP1):c.384T>C (p.Val128=)not provided [RCV002658305]likely benign37105367271053672Humanname
156405442CV1994397single nucleotide variantNM_001349338.3(FOXP1):c.366C>T (p.Ser122=)not provided [RCV002658306]likely benign37105369071053690Humanname
156352678CV1994580single nucleotide variantNM_001349338.3(FOXP1):c.963A>G (p.Gln321=)not provided [RCV002675704]likely benign37101556071015560Humanname
156377374CV2000456single nucleotide variantNM_001349338.3(FOXP1):c.768G>A (p.Thr256=)not provided [RCV002653400]likely benign37104142971041429Humanname
156287602CV2012907single nucleotide variantNM_001349338.3(FOXP1):c.879T>C (p.His293=)not provided [RCV002715524]likely benign37101564471015644Humanname
156010065CV2020305single nucleotide variantNM_001349338.3(FOXP1):c.501G>A (p.Gln167=)not provided [RCV002734851]likely benign37105254671052546Humanname
156367062CV2020986single nucleotide variantNM_001349338.3(FOXP1):c.516G>A (p.Gln172=)not provided [RCV002721253]likely benign37104709071047090Humanname
156373022CV2028249single nucleotide variantNM_001349338.3(FOXP1):c.354A>G (p.Gln118=)not provided [RCV002721679]likely benign37105370271053702Humanname
156113526CV2058369single nucleotide variantNM_001349338.3(FOXP1):c.588C>G (p.Leu196=)not provided [RCV002825019]likely benign37104701871047018Humanname
10404202CV207089single nucleotide variantNM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)Congenital cerebellar hypoplasia [RCV001257987]|FOXP1-related disorder [RCV003967497]|Inborn genetic diseases [RCV002311296]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000779637]|Intellectual disability-severe speech delay-mild dyslikely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance37119833871198338Human5name , alternate_id
155973312CV2079350single nucleotide variantNM_001349338.3(FOXP1):c.651A>G (p.Gln217=)not provided [RCV002881587]benign37104695571046955Humanname
156229882CV2085189single nucleotide variantNM_001349338.3(FOXP1):c.528C>T (p.Thr176=)not provided [RCV002876196]likely benign37104707871047078Humanname
155975368CV2088859microsatelliteNM_001349338.3(FOXP1):c.1146+18_1146+20delnot provided [RCV002863506]likely benign37098797470987976Humanname
156050022CV2093469single nucleotide variantNM_001349338.3(FOXP1):c.333A>G (p.Gln111=)not provided [RCV002867754]likely benign37105372371053723Humanname
155944162CV2130097single nucleotide variantNM_001349338.3(FOXP1):c.852C>T (p.His284=)not provided [RCV002971481]benign37104134571041345Humanname
156205069CV2146702single nucleotide variantNM_001349338.3(FOXP1):c.945A>C (p.Ala315=)not provided [RCV003006464]likely benign37101557871015578Humanname
156082071CV2167569deletionNM_001349338.3(FOXP1):c.1428+10_1428+13delnot provided [RCV003020383]likely benign37097763070977633Humanname
243053475CV2410199single nucleotide variantNM_001349338.3(FOXP1):c.59C>T (p.Ser20Leu)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144085]uncertain significance37119832371198323Human1name
243050561CV2415523single nucleotide variantNM_001349338.3(FOXP1):c.94C>A (p.Leu32Ile)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003148111]uncertain significance37119828871198288Human1name
405020626CV2866366single nucleotide variantNM_001349338.3(FOXP1):c.885G>A (p.Glu295=)not provided [RCV003577544]likely benign37101563871015638Humanname
405063694CV2868560single nucleotide variantNM_001349338.3(FOXP1):c.525T>C (p.Ala175=)not provided [RCV003548087]likely benign37104708171047081Humanname
405077209CV2869614single nucleotide variantNM_001349338.3(FOXP1):c.915T>C (p.His305=)not provided [RCV003548889]likely benign37101560871015608Humanname
405239304CV2885785single nucleotide variantNM_001349338.3(FOXP1):c.633G>A (p.Gln211=)not provided [RCV003556931]benign37104697371046973Humanname
11652924CV291556single nucleotide variantNM_032682.6(FOXP1):c.1129A>G (p.Lys377Glu)Intellectual Disability with Language Impairment and Autistic Features [RCV000308076]uncertain significance37098801170988011Humanname
402524419CV2940322single nucleotide variantNM_001349338.3(FOXP1):c.795C>T (p.Ser265=)not provided [RCV003663450]likely benign37104140271041402Humanname
405082402CV2941961single nucleotide variantNM_001349338.3(FOXP1):c.378C>G (p.Leu126=)not provided [RCV003664712]likely benign37105367871053678Humanname
405100267CV2944145single nucleotide variantNM_001349338.3(FOXP1):c.843C>T (p.Leu281=)not provided [RCV003665687]likely benign37104135471041354Humanname
405156234CV3037380single nucleotide variantNM_001349338.3(FOXP1):c.606A>G (p.Gln202=)not provided [RCV003703638]likely benign37104700071047000Humanname
405197076CV3037838single nucleotide variantNM_001349338.3(FOXP1):c.71A>C (p.Asn24Thr)not provided [RCV003707040]uncertain significance37119831171198311Humanname
405149421CV3063541single nucleotide variantNM_001349338.3(FOXP1):c.834T>C (p.Asn278=)not provided [RCV003726308]likely benign37104136371041363Humanname
405043858CV3074293single nucleotide variantNM_001349338.3(FOXP1):c.741C>T (p.Asn247=)not provided [RCV003740120]likely benign37104145671041456Humanname
405090037CV3118455single nucleotide variantNM_001349338.3(FOXP1):c.684G>A (p.Leu228=)not provided [RCV003811097]likely benign37104151371041513Humanname
404985847CV3121747single nucleotide variantNM_001349338.3(FOXP1):c.960C>T (p.Phe320=)not provided [RCV003826546]likely benign37101556371015563Humanname
405183326CV3124055single nucleotide variantNM_001349338.3(FOXP1):c.300T>A (p.Ala100=)not provided [RCV003820251]likely benign37105375671053756Humanname
405030379CV3129973microsatelliteNM_001349338.3(FOXP1):c.1147-16_1147-14delnot provided [RCV003830572]likely benign37097804370978045Humanname
405180093CV3148852deletionNM_001349338.3(FOXP1):c.1429-26_1429-12delnot provided [RCV003858630]uncertain significance37097705470977068Humanname
405229609CV3153532single nucleotide variantNM_001349338.3(FOXP1):c.615G>C (p.Leu205=)not provided [RCV003848597]likely benign37104699171046991Humanname
405143233CV3155685single nucleotide variantNM_001349338.3(FOXP1):c.996G>A (p.Ala332=)not provided [RCV003855727]likely benign37100103871001038Humanname
405207264CV3162095single nucleotide variantNM_001349338.3(FOXP1):c.786T>C (p.Ser262=)not provided [RCV003861589]likely benign37104141171041411Humanname
405246511CV3162336single nucleotide variantNM_001349338.3(FOXP1):c.909T>C (p.Tyr303=)not provided [RCV003868855]likely benign37101561471015614Humanname
596921100CV3534717single nucleotide variantNM_001349338.3(FOXP1):c.56G>C (p.Gly19Ala)not provided [RCV004784274]uncertain significance37119832671198326Humanname
597949413CV3745958single nucleotide variantNM_001349338.3(FOXP1):c.61G>A (p.Gly21Ser)not provided [RCV005079142]uncertain significance37119832171198321Humanname
597876910CV3747917single nucleotide variantNM_001349338.3(FOXP1):c.597G>A (p.Leu199=)not provided [RCV005069409]benign37104700971047009Humanname
597891125CV3749342single nucleotide variantNM_001349338.3(FOXP1):c.639C>T (p.Ala213=)not provided [RCV005071126]likely benign37104696771046967Humanname
597957413CV3754829microsatelliteNM_001349338.3(FOXP1):c.1428+15_1428+16delnot provided [RCV005080679]likely benign37097762770977628Humanname
597915349CV3767343single nucleotide variantNM_001349338.3(FOXP1):c.28A>C (p.Lys10Gln)not provided [RCV005114334]uncertain significance37119835471198354Humanname
597892199CV3784899single nucleotide variantNM_001349338.3(FOXP1):c.576G>A (p.Gln192=)not provided [RCV005125678]likely benign37104703071047030Humanname
597868417CV3803329single nucleotide variantNM_001349338.3(FOXP1):c.390C>T (p.Leu130=)not provided [RCV005147926]likely benign37105366671053666Humanname
597888214CV3804446single nucleotide variantNM_001349338.3(FOXP1):c.765C>G (p.Thr255=)not provided [RCV005150897]likely benign37104143271041432Humanname
597933844CV3810805single nucleotide variantNM_001349338.3(FOXP1):c.711T>C (p.Ser237=)not provided [RCV005157514]likely benign37104148671041486Humanname
597864710CV3814193single nucleotide variantNM_001349338.3(FOXP1):c.357A>G (p.Gln119=)not provided [RCV005147262]likely benign37105369971053699Humanname
597888314CV3859478single nucleotide variantNM_001349338.3(FOXP1):c.97C>T (p.Arg33Trp)not provided [RCV005200134]uncertain significance37119828571198285Humanname
597860780CV3860097single nucleotide variantNM_001349338.3(FOXP1):c.414T>C (p.Leu138=)not provided [RCV005195826]likely benign37105364271053642Humanname
13215547CV428214single nucleotide variantNM_001349338.3(FOXP1):c.936C>T (p.Gly312=)Inborn genetic diseases [RCV002446977]|not provided [RCV001541847]|not specified [RCV000502644]likely benign37101558771015587Human1name
13213180CV428215single nucleotide variantNM_001349338.3(FOXP1):c.855T>G (p.Thr285=)FOXP1-related disorder [RCV003900044]|not provided [RCV001562630]|not specified [RCV000499710]benign|likely benign37104134271041342Human1name , alternate_id
13829777CV579079single nucleotide variantNM_001349338.3(FOXP1):c.738C>G (p.Gly246=)Inborn genetic diseases [RCV002318078]|not provided [RCV002533028]likely benign37104145971041459Human1name
15197004CV748514single nucleotide variantNM_001349338.3(FOXP1):c.390C>G (p.Leu130=)Inborn genetic diseases [RCV002354746]|not provided [RCV000911856]likely benign37105366671053666Human1name
15179074CV764157single nucleotide variantNM_001349338.3(FOXP1):c.699A>G (p.Lys233=)not provided [RCV000929552]likely benign37104149871041498Humanname
28881061CV859300single nucleotide variantNM_001349338.3(FOXP1):c.31A>G (p.Ser11Gly)not provided [RCV001092350]uncertain significance37119835171198351Humanname
150338127CV1173807single nucleotide variantNM_001349338.3(FOXP1):c.1722G>A (p.Gln574=)not provided [RCV001542069]pathogenic37097073670970736Humanname
150529233CV1288787single nucleotide variantNM_001349338.3(FOXP1):c.214C>T (p.Gln72Ter)not provided [RCV001727255]pathogenic37111260471112604Humanname
150553032CV1298043single nucleotide variantNM_001349338.3(FOXP1):c.155C>T (p.Ala52Val)not provided [RCV001768656]uncertain significance37119822771198227Humanname
150549410CV1299435single nucleotide variantNM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe)not provided [RCV001752361]conflicting interpretations of pathogenicity|uncertain significance37111263471112634Humanname
150550509CV1308243single nucleotide variantNM_001349338.3(FOXP1):c.1359G>A (p.Ala453=)Inborn genetic diseases [RCV002386548]|not provided [RCV001753234]likely benign|conflicting interpretations of pathogenicity|uncertain significance37097771270977712Human1name
150557413CV1310867single nucleotide variantNM_001349338.3(FOXP1):c.1764T>C (p.Ala588=)not provided [RCV001776601]likely benign37096601570966015Humanname
151353396CV1326505single nucleotide variantNM_001349338.3(FOXP1):c.110C>G (p.Ser37Cys)not provided [RCV001816362]uncertain significance37119827271198272Humanname
151751681CV1458972single nucleotide variantNM_001349338.3(FOXP1):c.160G>A (p.Ala54Thr)Inborn genetic diseases [RCV002389031]|not provided [RCV002043346]benign|likely benign|uncertain significance37119822271198222Human1name
151811214CV1516730single nucleotide variantNM_001349338.3(FOXP1):c.289G>A (p.Val97Met)Inborn genetic diseases [RCV002608078]|not provided [RCV002012453]likely benign|uncertain significance37105376771053767Human1name
152979229CV1671267deletionNM_001349338.3(FOXP1):c.488del (p.His163fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002226941]pathogenic37105255971052559Human1name
152979231CV1671271deletionNM_001349338.3(FOXP1):c.825del (p.Ser276fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002226945]pathogenic37104137271041372Human1name
153346767CV1691115deletionNM_001349338.3(FOXP1):c.738del (p.Asn247fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002272596]pathogenic37104145971041459Human1name
153346905CV1691772single nucleotide variantNM_001349338.3(FOXP1):c.159C>A (p.His53Gln)FOXP1-related disorder [RCV003943338]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002273255]|not provided [RCV003738177]benign|likely benign37119822371198223Human1name , alternate_id
153347003CV1694355deletionNM_001349338.3(FOXP1):c.494del (p.Gly165fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002277750]pathogenic37105255371052553Human1name
155267972CV1701490deletionNM_001349338.3(FOXP1):c.427del (p.Leu143fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002283716]likely pathogenic37105262071052620Human1name
155749711CV1774656single nucleotide variantNM_001349338.3(FOXP1):c.130G>A (p.Val44Met)not provided [RCV002304937]uncertain significance37119825271198252Humanname
9692945CV177723single nucleotide variantNM_001349338.3(FOXP1):c.1383C>T (p.Asn461=)Inborn genetic diseases [RCV005338089]|not provided [RCV000153266]likely benign|conflicting interpretations of pathogenicity|uncertain significance37097768870977688Human1name
155674555CV1786319single nucleotide variantNM_001349338.3(FOXP1):c.1146C>T (p.Pro382=)Inborn genetic diseases [RCV002454894]|not provided [RCV003099573]likely benign37098799470987994Human1name
155675411CV1808296single nucleotide variantNM_001349338.3(FOXP1):c.122C>T (p.Thr41Met)Inborn genetic diseases [RCV002369208]|not provided [RCV003098356]likely benign|uncertain significance37119826071198260Human1name
155712613CV1824287single nucleotide variantNM_001349338.3(FOXP1):c.1263C>G (p.Pro421=)Inborn genetic diseases [RCV002447658]likely benign37097791370977913Human1name
155732739CV1826482single nucleotide variantNM_001349338.3(FOXP1):c.135C>A (p.Asp45Glu)Inborn genetic diseases [RCV002383439]uncertain significance37119824771198247Human1name
155731729CV1833850single nucleotide variantNM_001349338.3(FOXP1):c.161C>T (p.Ala54Val)Inborn genetic diseases [RCV002401042]|not provided [RCV005097642]likely benign|uncertain significance37119822171198221Human1name
155714636CV1834787single nucleotide variantNM_001349338.3(FOXP1):c.1785G>C (p.Leu595=)Inborn genetic diseases [RCV002404153]|not provided [RCV003708679]likely benign37096599470965994Human1name
155721473CV1835937single nucleotide variantNM_001349338.3(FOXP1):c.1305C>T (p.Ile435=)Inborn genetic diseases [RCV002380940]|not provided [RCV003094947]benign|likely benign37097787170977871Human1name
155721930CV1836002single nucleotide variantNM_001349338.3(FOXP1):c.1308C>T (p.Arg436=)Inborn genetic diseases [RCV002381005]|not provided [RCV003738235]likely benign37097786870977868Human1name
155681282CV1839606single nucleotide variantNM_001349338.3(FOXP1):c.1965C>T (p.Ala655=)Inborn genetic diseases [RCV002423382]likely benign37095931670959316Human1name
155800172CV1860055duplicationNM_001349338.3(FOXP1):c.573dup (p.Gln192fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002466323]pathogenic37104703271047033Human1name
156385270CV1874836single nucleotide variantNM_001349338.3(FOXP1):c.1977A>G (p.Pro659=)not provided [RCV003050808]likely benign37095930470959304Humanname
156025680CV1896210single nucleotide variantNM_001349338.3(FOXP1):c.1437C>T (p.Leu479=)not provided [RCV003100414]likely benign37097703470977034Humanname
156027724CV1906831single nucleotide variantNM_001349338.3(FOXP1):c.142G>C (p.Ala48Pro)not provided [RCV003100504]benign|conflicting interpretations of pathogenicity37119824071198240Humanname
156418939CV1919020single nucleotide variantNM_001349338.3(FOXP1):c.1473C>T (p.Ile491=)not provided [RCV002612150]likely benign37097699870976998Humanname
10051002CV192787single nucleotide variantNM_001349338.3(FOXP1):c.1902C>T (p.His634=)not provided [RCV000176235]conflicting interpretations of pathogenicity|uncertain significance37095937970959379Humanname
155912984CV1935392single nucleotide variantNM_001349338.3(FOXP1):c.116G>C (p.Gly39Ala)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002510725]uncertain significance37119826671198266Human1name
155944443CV1935529single nucleotide variantNM_001349338.3(FOXP1):c.157C>T (p.His53Tyr)not provided [RCV002511276]uncertain significance37119822571198225Humanname
156408064CV1957715single nucleotide variantNM_001349338.3(FOXP1):c.1221A>G (p.Pro407=)not provided [RCV002586411]likely benign37097795570977955Humanname
156339503CV1961576single nucleotide variantNM_001349338.3(FOXP1):c.1248C>G (p.Pro416=)not provided [RCV002580430]likely benign37097792870977928Humanname
156406486CV1963648single nucleotide variantNM_001349338.3(FOXP1):c.1761C>T (p.Thr587=)not provided [RCV002585924]likely benign37096601870966018Humanname
156419487CV1967241single nucleotide variantNM_001349338.3(FOXP1):c.1248C>T (p.Pro416=)not provided [RCV002612724]likely benign37097792870977928Humanname
155974079CV1974963single nucleotide variantNM_001349338.3(FOXP1):c.136A>G (p.Ile46Val)not provided [RCV002617312]uncertain significance37119824671198246Humanname
156135685CV1977246single nucleotide variantNM_001349338.3(FOXP1):c.1254C>A (p.Thr418=)not provided [RCV002593651]likely benign37097792270977922Humanname
156416241CV1984097single nucleotide variantNM_001349338.3(FOXP1):c.1239C>G (p.Pro413=)FOXP1-related disorder [RCV003898451]|not provided [RCV002610065]likely benign37097793770977937Human1name , alternate_id
156397320CV1985332single nucleotide variantNM_001349338.3(FOXP1):c.1134C>T (p.Ala378=)not provided [RCV002635631]likely benign37098800670988006Humanname
156405432CV1994395single nucleotide variantNM_001349338.3(FOXP1):c.1002C>T (p.Asp334=)not provided [RCV002658304]likely benign37100103271001032Humanname
156354088CV1994940single nucleotide variantNM_001349338.3(FOXP1):c.1689C>T (p.His563=)not provided [RCV002675797]likely benign37097076970970769Humanname
156333085CV2000739single nucleotide variantNM_001349338.3(FOXP1):c.2001C>T (p.Tyr667=)not provided [RCV002649928]likely benign37095928070959280Humanname
156300199CV2002028single nucleotide variantNM_001349338.3(FOXP1):c.1176C>A (p.Ser392=)not provided [RCV002671125]likely benign37097800070978000Humanname
156109382CV2002210single nucleotide variantNM_001349338.3(FOXP1):c.151C>T (p.Leu51Phe)not provided [RCV002639877]likely benign37119823171198231Humanname
156275677CV2004921single nucleotide variantNM_001349338.3(FOXP1):c.1182C>T (p.Ser394=)not provided [RCV002646677]likely benign37097799470977994Humanname
156215807CV2015228single nucleotide variantNM_001349338.3(FOXP1):c.1314G>C (p.Arg438=)not provided [RCV002700808]likely benign37097786270977862Humanname
155970521CV2030784single nucleotide variantNM_001349338.3(FOXP1):c.121A>G (p.Thr41Ala)not provided [RCV002731600]uncertain significance37119826171198261Humanname
156139659CV2040720single nucleotide variantNM_001349338.3(FOXP1):c.1800C>T (p.Ser600=)not provided [RCV002786476]likely benign37096597970965979Humanname
156144814CV2052687single nucleotide variantNM_001349338.3(FOXP1):c.1596A>G (p.Ala532=)not provided [RCV002801091]likely benign37097261170972611Humanname
155935453CV2063779single nucleotide variantNM_001349338.3(FOXP1):c.1128C>T (p.Pro376=)not provided [RCV002839042]likely benign37098801270988012Humanname
156307381CV2067013single nucleotide variantNM_001349338.3(FOXP1):c.205C>A (p.Leu69Ile)not provided [RCV002833926]uncertain significance37111261371112613Humanname
10403995CV207086single nucleotide variantNM_001349338.3(FOXP1):c.1413A>G (p.Ala471=)FOXP1-related disorder [RCV003937691]|Inborn genetic diseases [RCV002314819]|not provided [RCV000883914]|not specified [RCV000193923]benign|likely benign37097765870977658Human2name , alternate_id
10404512CV207087single nucleotide variantNM_001349338.3(FOXP1):c.1236C>A (p.Ala412=)not specified [RCV000195257]uncertain significance37097794070977940Humanname
155978800CV2081784single nucleotide variantNM_001349338.3(FOXP1):c.1816C>T (p.Leu606=)not provided [RCV002863665]likely benign37096596370965963Humanname
156030805CV2093419single nucleotide variantNM_001349338.3(FOXP1):c.1456C>T (p.Leu486=)not provided [RCV002885393]likely benign37097701570977015Humanname
156232946CV2093907single nucleotide variantNM_001349338.3(FOXP1):c.1092C>T (p.Ala364=)not provided [RCV002894623]likely benign37098804870988048Humanname
156329021CV2094653single nucleotide variantNM_001349338.3(FOXP1):c.1236C>T (p.Ala412=)not provided [RCV002899806]likely benign37097794070977940Humanname
156221429CV2104806single nucleotide variantNM_001349338.3(FOXP1):c.1515C>T (p.Asn505=)not provided [RCV002932471]likely benign37097695670976956Humanname
156298167CV2119348single nucleotide variantNM_001349338.3(FOXP1):c.125C>T (p.Pro42Leu)not provided [RCV002962014]uncertain significance37119825771198257Humanname
156044867CV2143644single nucleotide variantNM_001349338.3(FOXP1):c.1821C>T (p.Asn607=)not provided [RCV002999669]likely benign37096595870965958Humanname
156312399CV2151311single nucleotide variantNM_001349338.3(FOXP1):c.1167C>T (p.Val389=)not provided [RCV003028659]likely benign37097800970978009Humanname
156290239CV2155148single nucleotide variantNM_001349338.3(FOXP1):c.1701A>G (p.Thr567=)not provided [RCV003009939]likely benign37097075770970757Humanname
156105776CV2160920single nucleotide variantNM_001349338.3(FOXP1):c.1176C>T (p.Ser392=)not provided [RCV003038749]likely benign37097800070978000Humanname
155960491CV2183430single nucleotide variantNM_001349338.3(FOXP1):c.104G>C (p.Gly35Ala)not provided [RCV003032913]uncertain significance37119827871198278Humanname
156072594CV2233382single nucleotide variantNM_001349338.3(FOXP1):c.267A>C (p.Lys89Asn)Inborn genetic diseases [RCV002737448]|not provided [RCV003698980]likely benign|uncertain significance37111255171112551Human1name
243053477CV2410200single nucleotide variantNM_001349338.3(FOXP1):c.139G>C (p.Gly47Arg)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144086]uncertain significance37119824371198243Human1name
11642814CV265768single nucleotide variantNM_001349338.3(FOXP1):c.169C>G (p.Gln57Glu)Inborn genetic diseases [RCV003165720]|not specified [RCV000382389]likely benign37119821371198213Human1name
329955019CV2670955single nucleotide variantNM_001349338.3(FOXP1):c.1635G>A (p.Arg545=)not provided [RCV003236225]uncertain significance37097257270972572Humanname
401752137CV2710313single nucleotide variantNM_001349338.3(FOXP1):c.113A>G (p.Asn38Ser)Inborn genetic diseases [RCV003277257]likely benign37119826971198269Human1name
401829439CV2747291single nucleotide variantNM_001349338.3(FOXP1):c.181G>A (p.Ala61Thr)not provided [RCV003328756]uncertain significance37111263771112637Humanname
401860802CV2794523single nucleotide variantNM_001349338.3(FOXP1):c.191T>G (p.Val64Gly)not provided [RCV003387691]uncertain significance37111262771112627Humanname
405169978CV2854266single nucleotide variantNM_001349338.3(FOXP1):c.1968C>T (p.Asn656=)not provided [RCV003542087]likely benign37095931370959313Humanname
405047453CV2856332single nucleotide variantNM_001349338.3(FOXP1):c.1086G>A (p.Leu362=)not provided [RCV003579553]likely benign37098805470988054Humanname
405043949CV2859633single nucleotide variantNM_001349338.3(FOXP1):c.115G>A (p.Gly39Arg)not provided [RCV003579265]uncertain significance37119826771198267Humanname
405176011CV2864660single nucleotide variantNM_001349338.3(FOXP1):c.2033G>A (p.Ter678=)not provided [RCV003542764]likely benign37095924870959248Humanname
405195095CV2868620single nucleotide variantNM_001349338.3(FOXP1):c.1062G>A (p.Gln354=)not provided [RCV003550733]uncertain significance37100097271000972Humanname
405190082CV2871225single nucleotide variantNM_001349338.3(FOXP1):c.151C>A (p.Leu51Ile)not provided [RCV003550322]uncertain significance37119823171198231Humanname
405073701CV2873064single nucleotide variantNM_001349338.3(FOXP1):c.175C>G (p.Gln59Glu)not provided [RCV003548686]uncertain significance37119820771198207Humanname
405215280CV2876059single nucleotide variantNM_001349338.3(FOXP1):c.1224G>A (p.Thr408=)not provided [RCV003553112]benign37097795270977952Humanname
405200434CV2877175single nucleotide variantNM_001349338.3(FOXP1):c.1116G>A (p.Lys372=)not provided [RCV003551332]likely benign37098802470988024Humanname
405141590CV2900813single nucleotide variantNM_001349338.3(FOXP1):c.1518G>A (p.Ala506=)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005036899]|not provided [RCV003560810]likely benign|uncertain significance37097695370976953Human1name
405182793CV2909591single nucleotide variantNM_001349338.3(FOXP1):c.2022G>A (p.Glu674=)not provided [RCV003564079]likely benign37095925970959259Humanname
11597266CV291553single nucleotide variantNM_001349338.3(FOXP1):c.1233C>T (p.Thr411=)FOXP1-related disorder [RCV003932405]|Inborn genetic diseases [RCV002374588]|not provided [RCV000923739]|not specified [RCV001821050]benign|likely benign37097794370977943Human2name , alternate_id
405224416CV2919132single nucleotide variantNM_001349338.3(FOXP1):c.1293G>C (p.Thr431=)not provided [RCV003568797]likely benign37097788370977883Humanname
405112260CV2938844single nucleotide variantNM_001349338.3(FOXP1):c.1599A>G (p.Val533=)not provided [RCV003666409]likely benign37097260870972608Humanname
405073627CV2941258single nucleotide variantNM_001349338.3(FOXP1):c.1740T>C (p.Asn580=)not provided [RCV003664132]likely benign37096603970966039Humanname
11661697CV296150single nucleotide variantNM_001349338.3(FOXP1):c.1641A>G (p.Gln547=)not provided [RCV001569544]likely benign|uncertain significance37097256670972566Humanname
11593314CV296187single nucleotide variantNM_001349338.3(FOXP1):c.1155G>A (p.Leu385=)not provided [RCV002696256]likely benign|uncertain significance37097802170978021Humanname
405213121CV2971235single nucleotide variantNM_001349338.3(FOXP1):c.1386A>T (p.Ala462=)not provided [RCV003679669]likely benign37097768570977685Humanname
405216904CV2972188single nucleotide variantNM_001349338.3(FOXP1):c.1896T>A (p.Pro632=)not provided [RCV003680145]likely benign37095938570959385Humanname
402494899CV2978557single nucleotide variantNM_001349338.3(FOXP1):c.258G>T (p.Arg86Ser)not provided [RCV003714152]uncertain significance37111256071112560Humanname
405011093CV2987260single nucleotide variantNM_001349338.3(FOXP1):c.1989T>C (p.His663=)not provided [RCV003693922]likely benign37095929270959292Humanname
405192325CV2989005single nucleotide variantNM_001349338.3(FOXP1):c.1038G>A (p.Gln346=)not provided [RCV003706581]likely benign37100099671000996Humanname
402480592CV2991148single nucleotide variantNM_001349338.3(FOXP1):c.1521C>T (p.Ala507=)not provided [RCV003686563]likely benign37097695070976950Humanname
404978396CV3012398single nucleotide variantNM_001349338.3(FOXP1):c.2031G>A (p.Glu677=)not provided [RCV003690804]likely benign37095925070959250Humanname
405003451CV3016346single nucleotide variantNM_001349338.3(FOXP1):c.1590A>G (p.Lys530=)not provided [RCV003693393]likely benign37097261770972617Humanname
405202563CV3036304single nucleotide variantNM_001349338.3(FOXP1):c.1158A>T (p.Val386=)not provided [RCV003707595]likely benign37097801870978018Humanname
405236273CV3038066single nucleotide variantNM_001349338.3(FOXP1):c.272C>T (p.Pro91Leu)not provided [RCV003712411]uncertain significance37111254671112546Humanname
405094881CV3045535single nucleotide variantNM_001349338.3(FOXP1):c.1311G>A (p.Arg437=)not provided [RCV003717962]likely benign37097786570977865Humanname
405211109CV3062344single nucleotide variantNM_001349338.3(FOXP1):c.1686C>T (p.Ser562=)not provided [RCV003731922]likely benign37097077270970772Humanname
405190723CV3069877single nucleotide variantNM_001349338.3(FOXP1):c.1338C>T (p.Pro446=)not provided [RCV003729694]likely benign37097783870977838Humanname
405134564CV3115319single nucleotide variantNM_001349338.3(FOXP1):c.1335G>A (p.Val445=)not provided [RCV003816164]likely benign37097784170977841Humanname
405115043CV3134155single nucleotide variantNM_001349338.3(FOXP1):c.1524G>A (p.Thr508=)not provided [RCV003836757]likely benign37097694770976947Humanname
405116349CV3134299single nucleotide variantNM_001349338.3(FOXP1):c.1398A>G (p.Pro466=)not provided [RCV003836901]likely benign37097767370977673Humanname
405014185CV3138863single nucleotide variantNM_001349338.3(FOXP1):c.1332C>T (p.Asn444=)not provided [RCV003829200]benign37097784470977844Humanname
405177782CV3147020single nucleotide variantNM_001349338.3(FOXP1):c.1158A>G (p.Val386=)not provided [RCV003842116]likely benign37097801870978018Humanname
405188944CV3149513single nucleotide variantNM_001349338.3(FOXP1):c.1152T>C (p.Asn384=)not provided [RCV003843239]likely benign37097802470978024Humanname
405173805CV3151921single nucleotide variantNM_001349338.3(FOXP1):c.1104C>T (p.His368=)not provided [RCV003858072]likely benign37098803670988036Humanname
405210820CV3158995single nucleotide variantNM_001349338.3(FOXP1):c.139G>A (p.Gly47Arg)not provided [RCV003862116]uncertain significance37119824371198243Humanname
405215835CV3160760single nucleotide variantNM_001349338.3(FOXP1):c.172C>G (p.Gln58Glu)not provided [RCV003862822]uncertain significance37119821071198210Humanname
405210167CV3162639single nucleotide variantNM_001349338.3(FOXP1):c.1293G>A (p.Thr431=)not provided [RCV003861938]likely benign37097788370977883Humanname
402485684CV3171374single nucleotide variantNM_001349338.3(FOXP1):c.1584C>T (p.Asn528=)not provided [RCV003876401]likely benign37097262370972623Humanname
402464650CV3177090single nucleotide variantNM_001349338.3(FOXP1):c.1188G>A (p.Ser396=)not provided [RCV003872721]likely benign37097798870977988Humanname
405262360CV3189254single nucleotide variantNM_001349338.3(FOXP1):c.1887C>T (p.Ala629=)FOXP1-related disorder [RCV003896489]likely benign37096589270965892Humanname , trait , alternate_id
405286674CV3205446single nucleotide variantNM_001349338.3(FOXP1):c.1488A>T (p.Thr496=)FOXP1-related disorder [RCV003959616]likely benign37097698370976983Humanname , trait , alternate_id
405289702CV3218345single nucleotide variantNM_001349338.3(FOXP1):c.1407A>G (p.Thr469=)FOXP1-related disorder [RCV003983747]|not provided [RCV005064929]likely benign37097766470977664Human1name , alternate_id
405761959CV3250706single nucleotide variantNM_001349338.3(FOXP1):c.227A>G (p.Gln76Arg)Inborn genetic diseases [RCV004394412]uncertain significance37111259171112591Human1name
407494280CV3442785single nucleotide variantNM_001349338.3(FOXP1):c.112A>G (p.Asn38Asp)Inborn genetic diseases [RCV004621277]|not provided [RCV005102201]uncertain significance37119827071198270Human1name
408393421CV3528465single nucleotide variantNM_001349338.3(FOXP1):c.221A>C (p.Gln74Pro)not provided [RCV004776233]uncertain significance37111259771112597Humanname
596921241CV3534859single nucleotide variantNM_001349338.3(FOXP1):c.201G>C (p.Gln67His)not provided [RCV004784417]uncertain significance37111261771112617Humanname
597903728CV3738212single nucleotide variantNM_001349338.3(FOXP1):c.1239C>A (p.Pro413=)not provided [RCV005072634]likely benign37097793770977937Humanname
597899523CV3740948single nucleotide variantNM_001349338.3(FOXP1):c.1507C>A (p.Arg503=)not provided [RCV005072111]likely benign37097696470976964Humanname
597830885CV3743618single nucleotide variantNM_001349338.3(FOXP1):c.1182C>G (p.Ser394=)not provided [RCV005062435]likely benign37097799470977994Humanname
597953018CV3756966single nucleotide variantNM_001349338.3(FOXP1):c.2019C>T (p.Asn673=)not provided [RCV005079827]likely benign37095926270959262Humanname
597874243CV3766112single nucleotide variantNM_001349338.3(FOXP1):c.1807C>A (p.Arg603=)not provided [RCV005108244]likely benign37096597270965972Humanname
597943840CV3782694single nucleotide variantNM_001349338.3(FOXP1):c.1965C>A (p.Ala655=)not provided [RCV005134234]likely benign37095931670959316Humanname
597891479CV3785001single nucleotide variantNM_001349338.3(FOXP1):c.1872A>G (p.Arg624=)not provided [RCV005125780]likely benign37096590770965907Humanname
597947631CV3800751single nucleotide variantNM_001349338.3(FOXP1):c.1545T>C (p.His515=)not provided [RCV005135151]likely benign37097266270972662Humanname
597909923CV3806520single nucleotide variantNM_001349338.3(FOXP1):c.1734T>C (p.Ala578=)not provided [RCV005154087]likely benign37096604570966045Humanname
597945055CV3812595single nucleotide variantNM_001349338.3(FOXP1):c.1896T>C (p.Pro632=)not provided [RCV005159805]likely benign37095938570959385Humanname
597875668CV3816827single nucleotide variantNM_001349338.3(FOXP1):c.1503C>T (p.Tyr501=)not provided [RCV005148880]likely benign37097696870976968Humanname
597940658CV3819096single nucleotide variantNM_001349338.3(FOXP1):c.1752A>G (p.Leu584=)not provided [RCV005158907]likely benign37096602770966027Humanname
597968336CV3820901single nucleotide variantNM_001349338.3(FOXP1):c.1206C>T (p.Ser402=)not provided [RCV005165742]likely benign37097797070977970Humanname
597840727CV3825401single nucleotide variantNM_001349338.3(FOXP1):c.1680G>A (p.Gln560=)not provided [RCV005172084]likely benign37097077870970778Humanname
597843801CV3827355single nucleotide variantNM_001349338.3(FOXP1):c.1506C>T (p.Phe502=)not provided [RCV005172626]likely benign37097696570976965Humanname
597845757CV3827871single nucleotide variantNM_001349338.3(FOXP1):c.1410T>C (p.Tyr470=)not provided [RCV005172945]likely benign37097766170977661Humanname
597976376CV3829624single nucleotide variantNM_001349338.3(FOXP1):c.149A>G (p.Asp50Gly)not provided [RCV005169891]uncertain significance37119823371198233Humanname
597946862CV3841756single nucleotide variantNM_001349338.3(FOXP1):c.1317C>T (p.Tyr439=)not provided [RCV005189190]likely benign37097785970977859Humanname
597937275CV3862674single nucleotide variantNM_001349338.3(FOXP1):c.1761C>G (p.Thr587=)not provided [RCV005207946]likely benign37096601870966018Humanname
13214737CV428216deletionNM_001349338.3(FOXP1):c.606del (p.Gly203fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000501630]pathogenic37104700071047000Human1name
13445816CV438249single nucleotide variantNM_001349338.3(FOXP1):c.1344G>A (p.Ser448=)not provided [RCV000512894]conflicting interpretations of pathogenicity|uncertain significance37097783270977832Humanname
13828441CV579061single nucleotide variantNM_001349338.3(FOXP1):c.1848C>T (p.Asn616=)Inborn genetic diseases [RCV002312444]|not provided [RCV002532993]likely benign|uncertain significance37096593170965931Human1name
13830013CV579067single nucleotide variantNM_001349338.3(FOXP1):c.154G>A (p.Ala52Thr)Inborn genetic diseases [RCV002318803]|not provided [RCV002534939]benign|likely benign37119822871198228Human1name
13829589CV579074single nucleotide variantNM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln)Inborn genetic diseases [RCV002315447]|not provided [RCV002067041]|not specified [RCV001816771]benign|conflicting interpretations of pathogenicity|uncertain significance37119827571198275Human1name
15193981CV764156single nucleotide variantNM_001349338.3(FOXP1):c.1149G>A (p.Leu383=)FOXP1-related disorder [RCV003895676]|not provided [RCV000933512]likely benign37097802770978027Human1name , alternate_id
28881052CV859299single nucleotide variantNM_001349338.3(FOXP1):c.1803A>T (p.Ala601=)not provided [RCV001092349]likely benign37096597670965976Humanname
34892168CV915025duplicationNM_001349338.3(FOXP1):c.659dup (p.Gln221fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001175604]pathogenic|likely pathogenic37104694671046947Human1name
38458797CV918244single nucleotide variantNM_001349338.3(FOXP1):c.274G>C (p.Ala92Pro)not specified [RCV001195377]uncertain significance37111254471112544Humanname
38459754CV918858single nucleotide variantNM_001349338.3(FOXP1):c.119A>T (p.Glu40Val)Inborn genetic diseases [RCV002348643]|Intellectual disability [RCV001251757]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001196089]|not provided [RCV002559246]likely benign|uncertain significance37119826371198263Human4name
38597697CV964229deletionNM_001349338.3(FOXP1):c.945del (p.Val316fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253012]pathogenic37101557871015578Human1name
40814519CV969347single nucleotide variantNM_001349338.3(FOXP1):c.1350A>T (p.Ala450=)Intellectual disability [RCV001260763]pathogenic37097772170977721Human2name
40887730CV972930single nucleotide variantNM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001265467]|not provided [RCV002537677]|not specified [RCV002246260]likely pathogenic|uncertain significance37119820371198203Human1name
40904136CV976254duplicationNM_001349338.3(FOXP1):c.447dup (p.Gln150fs)not provided [RCV001269971]pathogenic37105259971052600Humanname
127292751CV1162098duplicationNM_001349338.3(FOXP1):c.1534dup (p.Ala512fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001527071]likely pathogenic37097267270972673Human1name
150494550CV1204851single nucleotide variantNM_001349338.3(FOXP1):c.316G>A (p.Val106Ile)not provided [RCV001593343]likely benign|conflicting interpretations of pathogenicity37105374071053740Humanname
150529232CV1288786single nucleotide variantNM_001349338.3(FOXP1):c.716A>G (p.His239Arg)not provided [RCV001727254]uncertain significance37104148171041481Humanname
150550555CV1298989single nucleotide variantNM_001349338.3(FOXP1):c.963A>T (p.Gln321His)not provided [RCV001765783]uncertain significance37101556071015560Humanname
150549854CV1299913single nucleotide variantNM_001349338.3(FOXP1):c.607G>A (p.Gly203Ser)not provided [RCV001765383]uncertain significance37104699971046999Humanname
151661311CV1329833single nucleotide variantNM_001349338.3(FOXP1):c.484C>T (p.Gln162Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001823033]likely pathogenic37105256371052563Human1name
8659613CV134555single nucleotide variantNM_001349338.3(FOXP1):c.643C>G (p.Pro215Ala)FOXP1-related disorder [RCV003975021]|Inborn genetic diseases [RCV002313882]|not provided [RCV000899617]|not specified [RCV000117094]benign|likely benign37104696371046963Human2name , alternate_id
151713073CV1428640deletionNM_001349338.3(FOXP1):c.1264del (p.Ser422fs)not provided [RCV002002367]pathogenic37097791270977912Humanname
151764867CV1499471single nucleotide variantNM_001349338.3(FOXP1):c.445A>G (p.Lys149Glu)not provided [RCV001873873]uncertain significance37105260271052602Humanname
152028764CV1642930single nucleotide variantNM_001349338.3(FOXP1):c.872T>C (p.Leu291Ser)not provided [RCV002185946]benign37101565171015651Humanname
152979953CV1675821single nucleotide variantNM_001349338.3(FOXP1):c.520G>A (p.Val174Met)not provided [RCV002244412]uncertain significance37104708671047086Humanname
152982994CV1677840deletionNM_001349338.3(FOXP1):c.2018del (p.Asn673fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002249994]pathogenic37095926370959263Human1name
153346820CV1691241single nucleotide variantNM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002272722]likely pathogenic37104132871041328Human1name
153346890CV1694257duplicationNM_001349338.3(FOXP1):c.1000dup (p.Asp334fs)Neurodevelopmental disorder [RCV002277673]likely pathogenic37100103371001034Human1name
155265248CV1704707single nucleotide variantNM_001349338.3(FOXP1):c.773G>A (p.Cys258Tyr)not provided [RCV002284923]uncertain significance37104142471041424Humanname
155644277CV1708539single nucleotide variantNM_001349338.3(FOXP1):c.319A>T (p.Ile107Phe)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002291082]uncertain significance37105373771053737Human1name
155641940CV1709994single nucleotide variantNM_001349338.3(FOXP1):c.508G>T (p.Glu170Ter)not provided [RCV002293094]pathogenic37105253971052539Humanname
155645053CV1710547single nucleotide variantNM_001349338.3(FOXP1):c.728A>G (p.Glu243Gly)not provided [RCV002293843]conflicting interpretations of pathogenicity|uncertain significance37104146971041469Humanname
155748781CV1772337single nucleotide variantNM_001349338.3(FOXP1):c.927G>C (p.Lys309Asn)not provided [RCV002303912]likely benign|uncertain significance37101559671015596Humanname
155690479CV1775154single nucleotide variantNM_001349338.3(FOXP1):c.853A>T (p.Thr285Ser)not provided [RCV002294861]uncertain significance37104134471041344Humanname
155705004CV1824013single nucleotide variantNM_001349338.3(FOXP1):c.840G>C (p.Gln280His)Inborn genetic diseases [RCV002445865]|not provided [RCV003099935]uncertain significance37104135771041357Human1name
155800175CV1860056single nucleotide variantNM_001349338.3(FOXP1):c.580C>T (p.Gln194Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002466324]pathogenic37104702671047026Human1name
155799648CV1862575deletionNM_001349338.3(FOXP1):c.1241del (p.Leu414fs)FOXP1-related disorder [RCV003943412]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002471982]|not provided [RCV002571475]pathogenic37097793570977935Human1name , alternate_id
155797240CV1863235single nucleotide variantNM_001349338.3(FOXP1):c.381G>C (p.Gln127His)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002470509]uncertain significance37105367571053675Human1name
156356864CV1891134single nucleotide variantNM_001349338.3(FOXP1):c.794C>G (p.Ser265Cys)Inborn genetic diseases [RCV003091419]|not provided [RCV003091418]likely benign|uncertain significance37104140371041403Human1name
156102989CV1917018single nucleotide variantNM_001349338.3(FOXP1):c.427C>T (p.Leu143Phe)not provided [RCV002592345]uncertain significance37105262071052620Humanname
10047939CV191730duplicationNM_001349338.3(FOXP1):c.1240dup (p.Leu414fs)Developmental disorder [RCV003126566]|Inborn genetic diseases [RCV002516654]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001548766]|not provided [RCV000352326]pathogenic37097793570977936Human3name
156053357CV1935006single nucleotide variantNM_001349338.3(FOXP1):c.527C>A (p.Thr176Asn)not provided [RCV003698966]|not specified [RCV002510292]uncertain significance37104707971047079Humanname
156446277CV1951313single nucleotide variantNM_001349338.3(FOXP1):c.767C>T (p.Thr256Met)not provided [RCV003117248]benign37104143071041430Humanname
156154965CV1957608single nucleotide variantNM_001349338.3(FOXP1):c.611T>A (p.Leu204His)not provided [RCV002573024]likely benign37104699571046995Humanname
156393856CV1962551single nucleotide variantNM_001349338.3(FOXP1):c.637G>T (p.Ala213Ser)not provided [RCV002584152]benign|uncertain significance37104696971046969Humanname
156086555CV1989424single nucleotide variantNM_001349338.3(FOXP1):c.856C>T (p.Pro286Ser)not provided [RCV002639074]benign37104134171041341Humanname
156234547CV2016104single nucleotide variantNM_001349338.3(FOXP1):c.730A>C (p.Thr244Pro)not provided [RCV002701495]uncertain significance37104146771041467Humanname
156116187CV2035554single nucleotide variantNM_001349338.3(FOXP1):c.619A>G (p.Ile207Val)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003146624]|not provided [RCV002785602]uncertain significance37104698771046987Human1name
156036201CV2052538single nucleotide variantNM_001349338.3(FOXP1):c.909T>G (p.Tyr303Ter)not provided [RCV002796259]pathogenic37101561471015614Humanname
155913154CV2065888single nucleotide variantNM_001349338.3(FOXP1):c.836G>A (p.Gly279Glu)not provided [RCV002837860]uncertain significance37104136171041361Humanname
156020798CV2082636single nucleotide variantNM_001349338.3(FOXP1):c.813G>A (p.Met271Ile)not provided [RCV002884947]likely benign37104138471041384Humanname
156122985CV2088567single nucleotide variantNM_001349338.3(FOXP1):c.490G>T (p.Ala164Ser)not provided [RCV002889637]likely benign37105255771052557Humanname
156167246CV2102278single nucleotide variantNM_001349338.3(FOXP1):c.511C>T (p.Gln171Ter)not provided [RCV002891213]pathogenic37104709571047095Humanname
155906903CV2148206single nucleotide variantNM_001349338.3(FOXP1):c.710G>A (p.Ser237Asn)not provided [RCV003011977]uncertain significance37104148771041487Humanname
155976233CV2149114single nucleotide variantNM_001349338.3(FOXP1):c.424C>G (p.Gln142Glu)not provided [RCV003016167]uncertain significance37105262371052623Humanname
156181056CV2155506single nucleotide variantNM_001349338.3(FOXP1):c.847G>A (p.Val283Ile)not provided [RCV003005704]uncertain significance37104135071041350Humanname
156254056CV2162855single nucleotide variantNM_001349338.3(FOXP1):c.931C>T (p.Pro311Ser)not provided [RCV003026440]uncertain significance37101559271015592Humanname
156233961CV2180533single nucleotide variantNM_001349338.3(FOXP1):c.628G>A (p.Gly210Arg)not provided [RCV003043195]likely benign37104697871046978Humanname
156264310CV2189095single nucleotide variantNM_001349338.3(FOXP1):c.772T>C (p.Cys258Arg)not provided [RCV003044229]likely benign|uncertain significance37104142571041425Humanname
156366212CV2192328single nucleotide variantNM_001349338.3(FOXP1):c.761T>A (p.Leu254Gln)not provided [RCV003065967]uncertain significance37104143671041436Humanname
156271970CV2237317single nucleotide variantNM_001349338.3(FOXP1):c.983A>G (p.Asn328Ser)Inborn genetic diseases [RCV002792532]uncertain significance37100105171001051Human1name
156440106CV2401791single nucleotide variantNM_001349338.3(FOXP1):c.821A>G (p.His274Arg)not provided [RCV003110079]uncertain significance37104137671041376Humanname
243053483CV2410203single nucleotide variantNM_001349338.3(FOXP1):c.952G>A (p.Glu318Lys)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144089]uncertain significance37101557171015571Human1name
243052793CV2418013duplicationNM_001349338.3(FOXP1):c.1552dup (p.Ser518fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003153078]likely pathogenic37097265470972655Human1name
329394181CV2450130single nucleotide variantNM_001349338.3(FOXP1):c.299C>T (p.Ala100Val)Inborn genetic diseases [RCV003193548]uncertain significance37105375771053757Human1name
329395228CV2473062single nucleotide variantNM_001349338.3(FOXP1):c.564G>A (p.Met188Ile)not provided [RCV003219046]uncertain significance37104704271047042Humanname
329351089CV2477918single nucleotide variantNM_001349338.3(FOXP1):c.320T>C (p.Ile107Thr)not provided [RCV003224031]uncertain significance37105373671053736Humanname
401797773CV2742328single nucleotide variantNM_001349338.3(FOXP1):c.930G>A (p.Trp310Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003324621]pathogenic37101559371015593Human1name
401830537CV2748221single nucleotide variantNM_001349338.3(FOXP1):c.625C>T (p.Pro209Ser)not provided [RCV003329828]uncertain significance37104698171046981Humanname
401855639CV2753057single nucleotide variantNM_001349338.3(FOXP1):c.802T>A (p.Ser268Thr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003338112]uncertain significance37104139571041395Human1name
401862452CV2775308single nucleotide variantNM_001349338.3(FOXP1):c.574C>A (p.Gln192Lys)Inborn genetic diseases [RCV003343230]uncertain significance37104703271047032Human1name
401947022CV2831951single nucleotide variantNM_001349338.3(FOXP1):c.910G>T (p.Gly304Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003447458]likely pathogenic37101561371015613Human1name
401944675CV2840463deletionNM_001349338.3(FOXP1):c.972delA (p.Lys325fs)not provided [RCV003457381]pathogenic37101554971015549Humanname
405036563CV2853520deletionNM_001349338.3(FOXP1):c.1451del (p.Lys484fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003517512]likely pathogenic37097702070977020Human1name
402492037CV2863139single nucleotide variantNM_001349338.3(FOXP1):c.667A>G (p.Met223Val)not provided [RCV003573110]uncertain significance37104153071041530Humanname
405206730CV2873992single nucleotide variantNM_001349338.3(FOXP1):c.581A>C (p.Gln194Pro)not provided [RCV003552037]uncertain significance37104702571047025Humanname
402493596CV2874218single nucleotide variantNM_001349338.3(FOXP1):c.964T>G (p.Ser322Ala)not provided [RCV003545165]uncertain significance37101555971015559Humanname
402501677CV2932376single nucleotide variantNM_001349338.3(FOXP1):c.800C>T (p.Thr267Ile)not provided [RCV003574056]uncertain significance37104139771041397Humanname
405083463CV2946380single nucleotide variantNM_001349338.3(FOXP1):c.838C>T (p.Gln280Ter)not provided [RCV003664786]pathogenic37104135971041359Humanname
405133571CV2959381single nucleotide variantNM_001349338.3(FOXP1):c.496A>G (p.Lys166Glu)not provided [RCV003668597]uncertain significance37105255171052551Humanname
11651053CV296095indelNM_001349338.3(FOXP1):c.*3415delinsTGTGTGTGTIntellectual Disability with Language Impairment and Autistic Features [RCV000296754]uncertain significance37095583270955832Humanname
11589596CV296188single nucleotide variantNM_001349338.3(FOXP1):c.301A>G (p.Met101Val)FOXP1-related disorder [RCV003404068]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003143478]|not provided [RCV003072796]likely benign|uncertain significance37105375571053755Human1name , alternate_id
405227625CV2963627single nucleotide variantNM_001349338.3(FOXP1):c.706A>T (p.Thr236Ser)not provided [RCV003681696]uncertain significance37104149171041491Humanname
405232727CV2985414single nucleotide variantNM_001349338.3(FOXP1):c.859A>C (p.Lys287Gln)not provided [RCV003711785]uncertain significance37104133871041338Humanname
405230806CV2988187single nucleotide variantNM_001349338.3(FOXP1):c.646C>T (p.Leu216Phe)not provided [RCV003711488]uncertain significance37104696071046960Humanname
402486425CV2998858single nucleotide variantNM_001349338.3(FOXP1):c.892C>T (p.His298Tyr)not provided [RCV003687027]likely benign37101563171015631Humanname
404980764CV3006225single nucleotide variantNM_001349338.3(FOXP1):c.497A>T (p.Lys166Ile)not provided [RCV003691197]likely benign37105255071052550Humanname
405002251CV3006469single nucleotide variantNM_001349338.3(FOXP1):c.653C>A (p.Pro218His)not provided [RCV003693291]likely benign37104695371046953Humanname
405042754CV3007694single nucleotide variantNM_001349338.3(FOXP1):c.427C>G (p.Leu143Val)not provided [RCV003696450]uncertain significance37105262071052620Humanname
405030012CV3012574single nucleotide variantNM_001349338.3(FOXP1):c.493G>A (p.Gly165Arg)not provided [RCV003695495]uncertain significance37105255471052554Humanname
402521782CV3126952single nucleotide variantNM_001349338.3(FOXP1):c.703G>A (p.Val235Met)not provided [RCV003824870]uncertain significance37104149471041494Humanname
405210050CV3145944single nucleotide variantNM_001349338.3(FOXP1):c.338A>C (p.Gln113Pro)not provided [RCV003845674]uncertain significance37105371871053718Humanname
405258628CV3194021single nucleotide variantNM_001349338.3(FOXP1):c.787G>C (p.Ala263Pro)FOXP1-related disorder [RCV003893603]uncertain significance37104141071041410Humanname , trait , alternate_id
405282735CV3216832deletionNM_001349338.3(FOXP1):c.1652+350_1652+367delFOXP1-related disorder [RCV003979009]likely benign37097218870972205Humanname , trait , alternate_id
408377428CV3501578single nucleotide variantNM_001349338.3(FOXP1):c.938G>A (p.Cys313Tyr)not provided [RCV004727636]uncertain significance37101558571015585Humanname
408377548CV3507662single nucleotide variantNM_001349338.3(FOXP1):c.766A>G (p.Thr256Ala)FOXP1-related disorder [RCV004751001]uncertain significance37104143171041431Humanname , trait , alternate_id
408388821CV3522789single nucleotide variantNM_001349338.3(FOXP1):c.712G>A (p.Ala238Thr)not provided [RCV004769170]uncertain significance37104148571041485Humanname
408389079CV3522893single nucleotide variantNM_001349338.3(FOXP1):c.861A>T (p.Lys287Asn)not provided [RCV004769274]uncertain significance37104133671041336Humanname
408389905CV3524820single nucleotide variantNM_001349338.3(FOXP1):c.670A>G (p.Ile224Val)not provided [RCV004769715]uncertain significance37104152771041527Humanname
596922120CV3529689deletionNM_001349338.3(FOXP1):c.1590del (p.Ala532fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004776547]pathogenic37097261770972617Human1name
596921868CV3535496deletionNM_001349338.3(FOXP1):c.1547del (p.Asn516fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004785051]likely pathogenic37097266070972660Human1name
596925003CV3536862single nucleotide variantNM_001349338.3(FOXP1):c.775G>C (p.Val259Leu)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004785856]uncertain significance37104142271041422Human1name
596929039CV3540737single nucleotide variantNM_001349338.3(FOXP1):c.412C>A (p.Leu138Ile)not provided [RCV004795065]uncertain significance37105364471053644Humanname
597669549CV3669804single nucleotide variantNM_001349338.3(FOXP1):c.713C>T (p.Ala238Val)Inborn genetic diseases [RCV004980077]uncertain significance37104148471041484Human1name
12849385CV367380single nucleotide variantNM_001349338.3(FOXP1):c.574C>T (p.Gln192Ter)not provided [RCV000429050]pathogenic37104703271047032Humanname
597664899CV3732570single nucleotide variantNM_001349338.3(FOXP1):c.995C>G (p.Ala332Gly)not provided [RCV005004039]uncertain significance37100103971001039Humanname
597896007CV3740377single nucleotide variantNM_001349338.3(FOXP1):c.706A>G (p.Thr236Ala)not provided [RCV005071730]uncertain significance37104149171041491Humanname
597912193CV3745580single nucleotide variantNM_001349338.3(FOXP1):c.827C>G (p.Ser276Cys)not provided [RCV005073581]uncertain significance37104137071041370Humanname
597965969CV3751467single nucleotide variantNM_001349338.3(FOXP1):c.824C>T (p.Ala275Val)not provided [RCV005082836]uncertain significance37104137371041373Humanname
597973021CV3790742single nucleotide variantNM_001349338.3(FOXP1):c.346C>G (p.Leu116Val)not provided [RCV005142957]uncertain significance37105371071053710Humanname
597968993CV3791113single nucleotide variantNM_001349338.3(FOXP1):c.471A>C (p.Gln157His)not provided [RCV005141145]uncertain significance37105257671052576Humanname
597954278CV3795744single nucleotide variantNM_001349338.3(FOXP1):c.830C>G (p.Thr277Ser)not provided [RCV005136754]uncertain significance37104136771041367Humanname
597927585CV3819871single nucleotide variantNM_001349338.3(FOXP1):c.812T>C (p.Met271Thr)not provided [RCV005156571]uncertain significance37104138571041385Humanname
597847753CV3824041single nucleotide variantNM_001349338.3(FOXP1):c.895A>G (p.Ser299Gly)not provided [RCV005173280]uncertain significance37101562871015628Humanname
597845087CV3880278single nucleotide variantNM_001349338.3(FOXP1):c.604C>T (p.Gln202Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005227172]pathogenic37104700271047002Human1name
598126261CV3881840deletionNM_001349338.3(FOXP1):c.1131del (p.Ala378fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005233392]likely pathogenic37098800970988009Human1name
598126335CV3881870single nucleotide variantNM_001349338.3(FOXP1):c.692T>A (p.Leu231His)not provided [RCV005233422]uncertain significance37104150571041505Humanname
598129333CV3888629single nucleotide variantNM_001349338.3(FOXP1):c.559C>T (p.Gln187Ter)not provided [RCV005244803]pathogenic37104704771047047Humanname
598217608CV3970008single nucleotide variantNM_001349338.3(FOXP1):c.924C>G (p.Cys308Trp)Inborn genetic diseases [RCV005340040]uncertain significance37101559971015599Human1name
598217619CV3970010single nucleotide variantNM_001349338.3(FOXP1):c.823G>A (p.Ala275Thr)Inborn genetic diseases [RCV005340042]uncertain significance37104137471041374Human1name
616936474CV4009128single nucleotide variantNM_001349338.3(FOXP1):c.596T>A (p.Leu199Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005402309]likely pathogenic37104701071047010Human1name
616935443CV4016051single nucleotide variantNM_001349338.3(FOXP1):c.631C>T (p.Gln211Ter)not provided [RCV005414916]pathogenic37104697571046975Humanname
617149451CV4018750single nucleotide variantNM_001349338.3(FOXP1):c.852C>G (p.His284Gln)not provided [RCV005422662]uncertain significance37104134571041345Humanname
13216507CV428217single nucleotide variantNM_001349338.3(FOXP1):c.602G>A (p.Arg201His)Inborn genetic diseases [RCV002527253]|not provided [RCV001764486]|not specified [RCV000503723]uncertain significance37104700471047004Human1name
13213928CV428218single nucleotide variantNM_001349338.3(FOXP1):c.306G>A (p.Met102Ile)not specified [RCV000500622]likely benign37105375071053750Humanname
13446079CV438250single nucleotide variantNM_001349338.3(FOXP1):c.526A>T (p.Thr176Ser)not provided [RCV000513248]conflicting interpretations of pathogenicity|uncertain significance37104708071047080Humanname
13516596CV490210single nucleotide variantNM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter)Congenital cerebellar hypoplasia [RCV001257988]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000779638]|not provided [RCV000595726]pathogenic|likely pathogenic37104698471046984Human4name
13521477CV495471deletionNM_001349338.3(FOXP1):c.1071del (p.Asp358fs)not provided [RCV000599484]pathogenic37098806970988069Humanname
13530240CV511510deletionNM_001349338.3(FOXP1):c.1507del (p.Arg503fs)Inborn genetic diseases [RCV000622344]pathogenic37097696470976964Human1name
13530242CV511512single nucleotide variantNM_001349338.3(FOXP1):c.598C>T (p.Gln200Ter)Inborn genetic diseases [RCV000622348]pathogenic37104700871047008Human1name
13830085CV579065single nucleotide variantNM_001349338.3(FOXP1):c.676A>G (p.Thr226Ala)Inborn genetic diseases [RCV002316699]|not provided [RCV002534946]benign|likely benign37104152171041521Human1name
13829798CV579082single nucleotide variantNM_001349338.3(FOXP1):c.319A>G (p.Ile107Val)Inborn genetic diseases [RCV002318102]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004760755]likely pathogenic|uncertain significance37105373771053737Human2name
14396117CV611597single nucleotide variantNM_001349338.3(FOXP1):c.529C>T (p.Gln177Ter)Inborn genetic diseases [RCV002533850]|not provided [RCV000760850]pathogenic37104707771047077Human1name
21071217CV790420single nucleotide variantNM_001349338.3(FOXP1):c.490G>A (p.Ala164Thr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987291]uncertain significance37105255771052557Human1name
21404760CV800393single nucleotide variantNM_001349338.3(FOXP1):c.407T>A (p.Leu136His)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001002796]uncertain significance37105364971053649Human1name
38598105CV963131duplicationNM_001349338.3(FOXP1):c.1103dup (p.His368fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001251131]likely pathogenic37098803670988037Human1name
38597769CV964228duplicationNM_001349338.3(FOXP1):c.1248dup (p.Val417fs)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253110]pathogenic37097792770977928Human1name
39456474CV965482single nucleotide variantNM_001349338.3(FOXP1):c.734C>T (p.Thr245Ile)not provided [RCV001255099]uncertain significance37104146371041463Humanname
40886809CV973385deletionNM_001349338.3(FOXP1):c.1569del (p.Phe523fs)Inborn genetic diseases [RCV001266061]pathogenic37097263870972638Human1name
126738154CV1000415single nucleotide variantNM_001349338.3(FOXP1):c.1396C>A (p.Pro466Thr)not provided [RCV001312033]pathogenic37097767570977675Humanname
126725629CV1016318single nucleotide variantNM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001331511]uncertain significance37097079470970794Human1name
126725627CV1016319single nucleotide variantNM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln)Autism spectrum disorder [RCV003127807]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001331510]|not provided [RCV003328675]likely benign|uncertain significance37097786370977863Human3name
127233473CV1053911single nucleotide variantNM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter)Intellectual disability [RCV001376151]|not provided [RCV003558826]pathogenic37097764570977645Human2name
127261759CV1087321single nucleotide variantNM_001349338.3(FOXP1):c.1888G>A (p.Val630Met)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001420646]|not provided [RCV002554094]benign|uncertain significance37096589170965891Human1name
151233790CV1153018single nucleotide variantNM_001349338.3(FOXP1):c.1553G>A (p.Ser518Asn)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001788526]pathogenic37097265470972654Human1name
150332219CV1163757single nucleotide variantNM_001349338.3(FOXP1):c.1778C>A (p.Pro593His)Atrial septal defect 1 [RCV001528148]|not provided [RCV002568862]pathogenic|uncertain significance37096600170966001Human1name
150432400CV1200633single nucleotide variantNM_001349338.3(FOXP1):c.1355T>C (p.Ile452Thr)not provided [RCV001581356]uncertain significance37097771670977716Humanname
150470648CV1209363single nucleotide variantNM_001349338.3(FOXP1):c.1768A>G (p.Met590Val)not provided [RCV001588474]likely benign37096601170966011Humanname
150529231CV1288785single nucleotide variantNM_001349338.3(FOXP1):c.1807C>T (p.Arg603Trp)not provided [RCV001727253]uncertain significance37096597270965972Humanname
150520458CV1289670single nucleotide variantNM_001349338.3(FOXP1):c.1891C>T (p.His631Tyr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001730089]|not provided [RCV001762742]uncertain significance37095939070959390Human1name
150533265CV1294147single nucleotide variantNM_001349338.3(FOXP1):c.1297G>A (p.Gly433Arg)not provided [RCV001758165]uncertain significance37097787970977879Humanname
150549526CV1295298single nucleotide variantNM_001349338.3(FOXP1):c.1237C>G (p.Pro413Ala)not provided [RCV001765198]uncertain significance37097793970977939Humanname
150546391CV1296209single nucleotide variantNM_001349338.3(FOXP1):c.1482G>C (p.Trp494Cys)not provided [RCV001763499]uncertain significance37097698970976989Humanname
150556172CV1296717single nucleotide variantNM_001349338.3(FOXP1):c.1849G>A (p.Glu617Lys)not provided [RCV001774007]uncertain significance37096593070965930Humanname
150551174CV1297220single nucleotide variantNM_001349338.3(FOXP1):c.1490G>A (p.Arg497Gln)not provided [RCV001766902]uncertain significance37097698170976981Humanname
150554886CV1304636single nucleotide variantNM_001349338.3(FOXP1):c.1523C>T (p.Thr508Met)not provided [RCV001771606]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance37097694870976948Humanname
150550724CV1305104single nucleotide variantNM_001349338.3(FOXP1):c.1067C>T (p.Ala356Val)not provided [RCV001765884]uncertain significance37098807370988073Humanname
150556839CV1305804single nucleotide variantNM_001349338.3(FOXP1):c.1949C>A (p.Ser650Tyr)not provided [RCV001774789]uncertain significance37095933270959332Humanname
150543548CV1309522single nucleotide variantNM_001349338.3(FOXP1):c.1021T>C (p.Cys341Arg)not provided [RCV003238575]likely pathogenic37100101371001013Humanname
150557050CV1310377single nucleotide variantNM_001349338.3(FOXP1):c.1427A>C (p.Gln476Pro)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001775305]likely pathogenic37097764470977644Human1name
150535263CV1311829single nucleotide variantNM_001349338.3(FOXP1):c.1722G>C (p.Gln574His)not provided [RCV001779639]likely pathogenic37097073670970736Humanname
151233204CV1317004single nucleotide variantNM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val)not provided [RCV001786824]conflicting interpretations of pathogenicity|uncertain significance37095931770959317Humanname
151350115CV1324599single nucleotide variantNM_001349338.3(FOXP1):c.1982T>C (p.Phe661Ser)Inborn genetic diseases [RCV005341056]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001809044]|not provided [RCV003728014]uncertain significance37095929970959299Human2name
151354129CV1327681single nucleotide variantNM_001349338.3(FOXP1):c.1737G>C (p.Glu579Asp)not provided [RCV004809677]|not specified [RCV001817625]likely benign37096604270966042Humanname
151662031CV1330187single nucleotide variantNM_001349338.3(FOXP1):c.1028T>G (p.Val343Gly)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001823599]uncertain significance37100100671001006Human1name
151733657CV1386795single nucleotide variantNM_001349338.3(FOXP1):c.1675A>G (p.Met559Val)not provided [RCV001911132]uncertain significance37097078370970783Humanname
151879406CV1412671single nucleotide variantNM_001349338.3(FOXP1):c.1234G>A (p.Ala412Thr)Inborn genetic diseases [RCV002561328]|not provided [RCV001926234]benign|likely benign|uncertain significance37097794270977942Human1name
151840443CV1432048single nucleotide variantNM_001349338.3(FOXP1):c.1087C>T (p.Gln363Ter)not provided [RCV001994675]pathogenic37098805370988053Humanname
152041066CV1519441single nucleotide variantNM_001349338.3(FOXP1):c.1201C>T (p.Gln401Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002071013]likely pathogenic37097797570977975Human1name
9589632CV166312single nucleotide variantNM_001349338.3(FOXP1):c.1600T>C (p.Trp534Arg)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000144697]|not provided [RCV005089672]pathogenic|likely pathogenic|uncertain significance37097260770972607Human1name
152154385CV1667894single nucleotide variantNM_001349338.3(FOXP1):c.1379A>G (p.Lys460Arg)not provided [RCV002221787]uncertain significance37097769270977692Humanname
155641997CV1707206single nucleotide variantNM_001349338.3(FOXP1):c.1963G>A (p.Ala655Thr)not provided [RCV002288136]uncertain significance37095931870959318Humanname
155643931CV1708245single nucleotide variantNM_001349338.3(FOXP1):c.1270A>G (p.Ile424Val)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002290234]uncertain significance37097790670977906Human1name
155694691CV1771938single nucleotide variantNM_001349338.3(FOXP1):c.2020G>C (p.Glu674Gln)not provided [RCV002299520]uncertain significance37095926170959261Humanname
9688353CV177352single nucleotide variantNM_001349338.3(FOXP1):c.1328A>G (p.Tyr443Cys)not provided [RCV003727626]|not specified [RCV000153267]benign|likely benign37097784870977848Humanname
155705115CV1774935single nucleotide variantNM_001349338.3(FOXP1):c.1802C>T (p.Ala601Val)not provided [RCV002300178]uncertain significance37096597770965977Humanname
155714603CV1776014single nucleotide variantNM_001349338.3(FOXP1):c.1835A>T (p.His612Leu)not provided [RCV002296346]uncertain significance37096594470965944Humanname
155749952CV1776846single nucleotide variantNM_001349338.3(FOXP1):c.1516G>A (p.Ala506Thr)not provided [RCV002305196]uncertain significance37097695570976955Humanname
155749840CV1779079single nucleotide variantNM_001349338.3(FOXP1):c.1432A>C (p.Ile478Leu)not provided [RCV002305077]uncertain significance37097703970977039Humanname
155670125CV1832278single nucleotide variantNM_001349338.3(FOXP1):c.1316A>T (p.Tyr439Phe)Inborn genetic diseases [RCV002385575]|not provided [RCV003094962]benign|likely benign37097786070977860Human1name
155733905CV1842734single nucleotide variantNM_001349338.3(FOXP1):c.1903G>A (p.Val635Ile)Inborn genetic diseases [RCV002408305]|not provided [RCV003097338]uncertain significance37095937870959378Human1name
155797014CV1863126single nucleotide variantNM_001349338.3(FOXP1):c.1223C>T (p.Thr408Met)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002470400]uncertain significance37097795370977953Human1name
156403274CV1908590single nucleotide variantNM_001349338.3(FOXP1):c.1681A>G (p.Ser561Gly)not provided [RCV002605865]likely benign|uncertain significance37097077770970777Humanname
156019776CV1909413single nucleotide variantNM_001349338.3(FOXP1):c.1808G>A (p.Arg603Gln)not provided [RCV002619334]likely benign|uncertain significance37096597170965971Humanname
155958949CV1911958single nucleotide variantNM_001349338.3(FOXP1):c.1249G>A (p.Val417Ile)not provided [RCV002616636]likely benign37097792770977927Humanname
156027384CV1913931single nucleotide variantNM_001349338.3(FOXP1):c.1291A>G (p.Thr431Ala)Inborn genetic diseases [RCV004621730]|not provided [RCV002619693]benign|likely benign37097788570977885Human1name
10047938CV191729single nucleotide variantNM_001349338.3(FOXP1):c.1317C>A (p.Tyr439Ter)not provided [RCV000174956]pathogenic37097785970977859Humanname
10048050CV192058single nucleotide variantNM_001349338.3(FOXP1):c.1624C>T (p.Gln542Ter)not provided [RCV000175370]pathogenic37097258370972583Humanname
156439013CV1943877single nucleotide variantNM_001349338.3(FOXP1):c.1851G>C (p.Glu617Asp)not provided [RCV003108966]uncertain significance37096592870965928Humanname
156210236CV1955724single nucleotide variantNM_001349338.3(FOXP1):c.1285A>G (p.Met429Val)Congenital heart disease [RCV005356143]|not provided [RCV002575124]uncertain significance37097789170977891Human1name
156415691CV1966186single nucleotide variantNM_001349338.3(FOXP1):c.1685G>A (p.Ser562Asn)not provided [RCV002589311]uncertain significance37097077370970773Humanname
156411312CV1976223single nucleotide variantNM_001349338.3(FOXP1):c.1384G>A (p.Ala462Thr)not provided [RCV002587449]likely benign|uncertain significance37097768770977687Humanname
155915819CV1980853single nucleotide variantNM_001349338.3(FOXP1):c.1586T>G (p.Val529Gly)not provided [RCV002614307]uncertain significance37097262170972621Humanname
156393786CV1984260single nucleotide variantNM_001349338.3(FOXP1):c.1879A>G (p.Met627Val)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004771525]|not provided [RCV002635254]uncertain significance37096590070965900Human1name
156085516CV1987584single nucleotide variantNM_001349338.3(FOXP1):c.1530G>T (p.Lys510Asn)not provided [RCV002621683]uncertain significance37097694170976941Humanname
156188474CV2020778single nucleotide variantNM_001349338.3(FOXP1):c.1661C>G (p.Ser554Cys)not provided [RCV002711007]uncertain significance37097079770970797Humanname
156178744CV2023225single nucleotide variantNM_001349338.3(FOXP1):c.1343C>T (p.Ser448Leu)not provided [RCV002765551]likely benign37097783370977833Humanname
156314385CV2031797single nucleotide variantNM_001349338.3(FOXP1):c.1198C>G (p.Pro400Ala)not provided [RCV002716717]uncertain significance37097797870977978Humanname
156014251CV2051632single nucleotide variantNM_001349338.3(FOXP1):c.1831G>A (p.Glu611Lys)not provided [RCV002820289]likely benign37096594870965948Humanname
156239412CV2053021single nucleotide variantNM_001349338.3(FOXP1):c.1118C>A (p.Ser373Tyr)not provided [RCV002791295]uncertain significance37098802270988022Humanname
155972807CV2062576single nucleotide variantNM_001349338.3(FOXP1):c.1833G>T (p.Glu611Asp)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003485794]|not provided [RCV002842158]likely benign|uncertain significance37096594670965946Human1name
155992626CV2063829single nucleotide variantNM_001349338.3(FOXP1):c.1604C>T (p.Thr535Ile)not provided [RCV002843029]uncertain significance37097260370972603Humanname
156352469CV2065935single nucleotide variantNM_001349338.3(FOXP1):c.1948T>A (p.Ser650Thr)not provided [RCV002811886]uncertain significance37095933370959333Humanname
10404426CV207082single nucleotide variantNM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser)FOXP1-related disorder [RCV003955151]|Inborn genetic diseases [RCV002317684]|not provided [RCV000906508]|not specified [RCV000195019]benign|likely benign|conflicting interpretations of pathogenicity37097074970970749Human2name , alternate_id
10408453CV207083single nucleotide variantNM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)Inborn genetic diseases [RCV000623483]|Intellectual disability [RCV001260761]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000194178]|See cases [RCV001420209]|not provided [RCV000478429]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity37097266670972666Human4name
10406609CV207084single nucleotide variantNM_001349338.3(FOXP1):c.1510C>G (p.Arg504Gly)not specified [RCV000193369]uncertain significance37097696170976961Humanname
10407023CV207085single nucleotide variantNM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000195136]|not provided [RCV000423150]pathogenic|likely pathogenic37097696470976964Human1name
156033753CV2097612single nucleotide variantNM_001349338.3(FOXP1):c.1859G>A (p.Ser620Asn)not provided [RCV002885515]uncertain significance37096592070965920Humanname
156271277CV2103048single nucleotide variantNM_001349338.3(FOXP1):c.1801G>A (p.Ala601Thr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005429087]|not provided [RCV002895931]likely benign|not provided37096597870965978Human1name
156098233CV2116981single nucleotide variantNM_001349338.3(FOXP1):c.1079A>C (p.Glu360Ala)not provided [RCV002952637]uncertain significance37098806170988061Humanname
155996201CV2122592single nucleotide variantNM_001349338.3(FOXP1):c.1489C>G (p.Arg497Gly)not provided [RCV002974964]likely benign|uncertain significance37097698270976982Humanname
156127606CV2124981single nucleotide variantNM_001349338.3(FOXP1):c.1961C>T (p.Thr654Ile)not provided [RCV002953752]uncertain significance37095932070959320Humanname
156218157CV2128095single nucleotide variantNM_001349338.3(FOXP1):c.1240C>G (p.Leu414Val)not provided [RCV002958031]uncertain significance37097793670977936Humanname
155945786CV2130216single nucleotide variantNM_001349338.3(FOXP1):c.1955T>G (p.Val652Gly)not provided [RCV002971572]benign37095932670959326Humanname
156363347CV2130399single nucleotide variantNM_001349338.3(FOXP1):c.1790A>G (p.Asn597Ser)not provided [RCV002967123]benign37096598970965989Humanname
156121815CV2137627single nucleotide variantNM_001349338.3(FOXP1):c.1843A>G (p.Ser615Gly)not provided [RCV003003012]uncertain significance37096593670965936Humanname
11039839CV213912single nucleotide variantNM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)FOXP1-related disorder [RCV003417726]|INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV004701260]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000207490]|not provided [RCV001267938]pathogenic37097266770972667Human1name , alternate_id
11039838CV213913single nucleotide variantNM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV004701259]|Intellectual disability [RCV001260764]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000207489]pathogenic|likely pathogenic37097767870977678Human3name
11039836CV213914single nucleotide variantNM_001349338.3(FOXP1):c.1317C>G (p.Tyr439Ter)INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV004701261]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000207487]pathogenic37097785970977859Human1name
156023801CV2145487single nucleotide variantNM_001349338.3(FOXP1):c.2024A>G (p.Asp675Gly)not provided [RCV003018357]likely benign37095925770959257Humanname
156043149CV2147063single nucleotide variantNM_001349338.3(FOXP1):c.1556T>C (p.Leu519Pro)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003146730]|not provided [RCV003019137]pathogenic|uncertain significance37097265170972651Human1name
155972067CV2152680single nucleotide variantNM_001349338.3(FOXP1):c.1934C>G (p.Ala645Gly)not provided [RCV003015983]uncertain significance37095934770959347Humanname
156001001CV2159531single nucleotide variantNM_001349338.3(FOXP1):c.1193C>T (p.Ala398Val)Inborn genetic diseases [RCV004978484]|not provided [RCV003017272]likely benign|uncertain significance37097798370977983Human1name
156396666CV2178234single nucleotide variantNM_001349338.3(FOXP1):c.1957A>G (p.Thr653Ala)not provided [RCV003051905]uncertain significance37095932470959324Humanname
156332484CV2181755single nucleotide variantNM_001349338.3(FOXP1):c.1793T>C (p.Leu598Ser)not provided [RCV003047299]uncertain significance37096598670965986Humanname
156131271CV2182139single nucleotide variantNM_001349338.3(FOXP1):c.1786G>A (p.Gly596Ser)not provided [RCV003055847]uncertain significance37096599370965993Humanname
156043869CV2188154single nucleotide variantNM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys)not provided [RCV003036672]likely benign|conflicting interpretations of pathogenicity37097801470978014Humanname
156124546CV2227360single nucleotide variantNM_001349338.3(FOXP1):c.1739A>G (p.Asn580Ser)Inborn genetic diseases [RCV002708063]|not provided [RCV005099579]uncertain significance37096604070966040Human1name
156124716CV2227381single nucleotide variantNM_001349338.3(FOXP1):c.1549C>T (p.Leu517Phe)Inborn genetic diseases [RCV002708074]|not provided [RCV005227824]pathogenic|uncertain significance37097265870972658Human1name
156172490CV2267909single nucleotide variantNM_001349338.3(FOXP1):c.1783C>G (p.Leu595Val)Inborn genetic diseases [RCV002828030]uncertain significance37096599670965996Human1name
156284673CV2317560single nucleotide variantNM_001349338.3(FOXP1):c.1872A>T (p.Arg624Ser)Inborn genetic diseases [RCV002935160]|not provided [RCV003320926]uncertain significance37096590770965907Human1name
156440113CV2401798single nucleotide variantNM_001349338.3(FOXP1):c.1127C>T (p.Pro376Leu)not provided [RCV003110086]uncertain significance37098801370988013Humanname
156451335CV2402730single nucleotide variantNM_001349338.3(FOXP1):c.1277C>T (p.Thr426Ile)not specified [RCV003123536]uncertain significance37097789970977899Humanname
156435509CV2403613single nucleotide variantNM_001349338.3(FOXP1):c.1280C>T (p.Thr427Ile)Developmental disorder [RCV003128075]uncertain significance37097789670977896Human1name
243053480CV2410201single nucleotide variantNM_001349338.3(FOXP1):c.1286T>G (p.Met429Arg)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144087]uncertain significance37097789070977890Human1name
243053486CV2410204single nucleotide variantNM_001349338.3(FOXP1):c.1690G>A (p.Ala564Thr)Inborn genetic diseases [RCV004978793]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144090]|not provided [RCV003778881]likely benign|uncertain significance37097076870970768Human2name
329349389CV2473278single nucleotide variantNM_001349338.3(FOXP1):c.1946T>C (p.Leu649Pro)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003221319]uncertain significance37095933570959335Human1name
11578529CV264185single nucleotide variantNM_001349338.3(FOXP1):c.1409A>G (p.Tyr470Cys)not provided [RCV000283441]pathogenic37097766270977662Humanname
401724291CV2672242single nucleotide variantNM_001349338.3(FOXP1):c.1264T>C (p.Ser422Pro)not provided [RCV003239143]uncertain significance37097791270977912Humanname
401754619CV2682254single nucleotide variantNM_001349338.3(FOXP1):c.1711G>A (p.Ala571Thr)Inborn genetic diseases [RCV003255055]|not provided [RCV003730490]benign|likely benign37097074770970747Human1name
11638623CV268629single nucleotide variantNM_001349338.3(FOXP1):c.2020G>A (p.Glu674Lys)Inborn genetic diseases [RCV003258724]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002265725]|not provided [RCV000306177]likely benign|uncertain significance37095926170959261Human2name
401753718CV2722563single nucleotide variantNM_001349338.3(FOXP1):c.1256A>G (p.Gln419Arg)Inborn genetic diseases [RCV003277786]uncertain significance37097792070977920Human1name
401795857CV2742821single nucleotide variantNM_001349338.3(FOXP1):c.1016C>A (p.Ala339Asp)not provided [RCV003325337]likely pathogenic37100101871001018Humanname
401828802CV2743137single nucleotide variantNM_001349338.3(FOXP1):c.1822G>C (p.Gly608Arg)not provided [RCV003325846]uncertain significance37096595770965957Humanname
401937913CV2797110single nucleotide variantNM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)FOXP1-related disorder [RCV003416911]|not provided [RCV003730579]likely pathogenic|uncertain significance37097703370977033Human1name , alternate_id
401913716CV2799635single nucleotide variantNM_001349338.3(FOXP1):c.1168A>T (p.Thr390Ser)FOXP1-related disorder [RCV003427949]|not provided [RCV003732578]uncertain significance37097800870978008Human1name , alternate_id
401934721CV2802784single nucleotide variantNM_001349338.3(FOXP1):c.1883A>G (p.Gln628Arg)FOXP1-related disorder [RCV003412147]uncertain significance37096589670965896Humanname , trait , alternate_id
401913234CV2830274single nucleotide variantNM_001349338.3(FOXP1):c.1365C>G (p.Asn455Lys)not provided [RCV003441489]uncertain significance37097770670977706Humanname
401914430CV2830693single nucleotide variantNM_001349338.3(FOXP1):c.1095G>T (p.Met365Ile)not provided [RCV003442431]uncertain significance37098804570988045Humanname
401944674CV2840462single nucleotide variantNM_001349338.3(FOXP1):c.1106T>C (p.Leu369Pro)not provided [RCV003457380]uncertain significance37098803470988034Humanname
402511431CV2858911single nucleotide variantNM_001349338.3(FOXP1):c.1928A>T (p.Glu643Val)not provided [RCV003547056]uncertain significance37095935370959353Humanname
402481785CV2860488single nucleotide variantNM_001349338.3(FOXP1):c.1589A>T (p.Lys530Ile)not provided [RCV003544107]uncertain significance37097261870972618Humanname
402479973CV2863900single nucleotide variantNM_001349338.3(FOXP1):c.1179G>C (p.Lys393Asn)not provided [RCV003543916]likely benign|uncertain significance37097799770977997Humanname
405020133CV2866207single nucleotide variantNM_001349338.3(FOXP1):c.1766C>G (p.Ser589Cys)not provided [RCV003577469]uncertain significance37096601370966013Humanname
405221372CV2908148single nucleotide variantNM_001349338.3(FOXP1):c.1541G>T (p.Arg514Leu)not provided [RCV003568487]uncertain significance37097266670972666Humanname
405221793CV2908265single nucleotide variantNM_001349338.3(FOXP1):c.1394G>A (p.Arg465Lys)not provided [RCV003568547]uncertain significance37097767770977677Humanname
405208826CV2919809single nucleotide variantNM_001349338.3(FOXP1):c.1952T>C (p.Leu651Ser)not provided [RCV003566865]uncertain significance37095932970959329Humanname
405183811CV2920316single nucleotide variantNM_001349338.3(FOXP1):c.1705C>G (p.Leu569Val)not provided [RCV003564255]uncertain significance37097075370970753Humanname
405189363CV2924523single nucleotide variantNM_001349338.3(FOXP1):c.1750C>A (p.Leu584Ile)not provided [RCV003564763]uncertain significance37096602970966029Humanname
405007869CV2929660single nucleotide variantNM_001349338.3(FOXP1):c.1144C>A (p.Pro382Thr)not provided [RCV003576407]uncertain significance37098799670987996Humanname
405040616CV2929870single nucleotide variantNM_001349338.3(FOXP1):c.2014G>A (p.Val672Ile)not provided [RCV003578990]uncertain significance37095926770959267Humanname
405069004CV2936903single nucleotide variantNM_001349338.3(FOXP1):c.1826C>T (p.Ala609Val)not provided [RCV003659304]likely benign37096595370965953Humanname
402513823CV2948516single nucleotide variantNM_001349338.3(FOXP1):c.1283G>A (p.Ser428Asn)not provided [RCV003662715]uncertain significance37097789370977893Humanname
11589253CV296151single nucleotide variantNM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)Inborn genetic diseases [RCV002356476]|not provided [RCV001705514]|not specified [RCV000499532]likely benign|conflicting interpretations of pathogenicity|uncertain significance37097795970977959Human1name
405211736CV2966989single nucleotide variantNM_001349338.3(FOXP1):c.1510C>T (p.Arg504Cys)not provided [RCV003679447]uncertain significance37097696170976961Humanname
405229430CV2967966single nucleotide variantNM_001349338.3(FOXP1):c.1492A>G (p.Met498Val)not provided [RCV003682003]uncertain significance37097697970976979Humanname
405198352CV2973079single nucleotide variantNM_001349338.3(FOXP1):c.1854T>G (p.Ser618Arg)not provided [RCV003677922]uncertain significance37096592570965925Humanname
405228646CV2973749single nucleotide variantNM_001349338.3(FOXP1):c.1736A>G (p.Glu579Gly)not provided [RCV003681875]uncertain significance37096604370966043Humanname
405201118CV2978993single nucleotide variantNM_001349338.3(FOXP1):c.1482G>A (p.Trp494Ter)not provided [RCV003678193]pathogenic37097698970976989Humanname
405223031CV2986368single nucleotide variantNM_001349338.3(FOXP1):c.1841A>G (p.Asn614Ser)not provided [RCV003680982]uncertain significance37096593870965938Humanname
402496343CV3005849single nucleotide variantNM_001349338.3(FOXP1):c.1214A>G (p.His405Arg)not provided [RCV003688049]uncertain significance37097796270977962Humanname
405115977CV3020054single nucleotide variantNM_001349338.3(FOXP1):c.1525T>C (p.Trp509Arg)not provided [RCV003700244]uncertain significance37097694670976946Humanname
405251709CV3046225single nucleotide variantNM_001349338.3(FOXP1):c.1677G>A (p.Met559Ile)not provided [RCV003721976]likely benign37097078170970781Humanname
405137976CV3048660single nucleotide variantNM_001349338.3(FOXP1):c.1615G>A (p.Val539Ile)not provided [RCV003725397]uncertain significance37097259270972592Humanname
405181247CV3147544single nucleotide variantNM_001349338.3(FOXP1):c.1081C>T (p.Arg361Cys)not provided [RCV003842446]uncertain significance37098805970988059Humanname
405051550CV3150994single nucleotide variantNM_001349338.3(FOXP1):c.1921G>A (p.Asp641Asn)not provided [RCV003849598]uncertain significance37095936070959360Humanname
405248522CV3159318single nucleotide variantNM_001349338.3(FOXP1):c.1858A>G (p.Ser620Gly)not provided [RCV003869464]likely benign|uncertain significance37096592170965921Humanname
405209893CV3162625single nucleotide variantNM_001349338.3(FOXP1):c.1975C>G (p.Pro659Ala)not provided [RCV003861924]uncertain significance37095930670959306Humanname
405235892CV3166380single nucleotide variantNM_001349338.3(FOXP1):c.1307G>A (p.Arg436His)not provided [RCV003853829]likely benign|uncertain significance37097786970977869Humanname
405761947CV3250704single nucleotide variantNM_001349338.3(FOXP1):c.1656C>A (p.Asn552Lys)Inborn genetic diseases [RCV004394410]uncertain significance37097080270970802Human1name
405761955CV3250705single nucleotide variantNM_001349338.3(FOXP1):c.1731G>A (p.Met577Ile)Inborn genetic diseases [RCV004394411]uncertain significance37096604870966048Human1name
8558372CV33467single nucleotide variantNM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter)INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV003761738]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000005214]|not provided [RCV000760393]pathogenic37097263470972634Human1name
407424796CV3410937single nucleotide variantNM_001349338.3(FOXP1):c.1772G>C (p.Gly591Ala)not provided [RCV004588627]uncertain significance37096600770966007Humanname
407429057CV3413444single nucleotide variantNM_001349338.3(FOXP1):c.1433T>G (p.Ile478Ser)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004594852]likely pathogenic37097703870977038Human1name
408386084CV3415552single nucleotide variantNM_001349338.3(FOXP1):c.1397C>T (p.Pro466Leu)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004767653]likely pathogenic37097767470977674Human1name
407494273CV3442783single nucleotide variantNM_001349338.3(FOXP1):c.1615G>C (p.Val539Leu)Inborn genetic diseases [RCV004621275]uncertain significance37097259270972592Human1name
407494276CV3442784single nucleotide variantNM_001349338.3(FOXP1):c.1616T>A (p.Val539Glu)Inborn genetic diseases [RCV004621276]uncertain significance37097259170972591Human1name
408365319CV3499788single nucleotide variantNM_001349338.3(FOXP1):c.1661C>T (p.Ser554Phe)not provided [RCV004721830]uncertain significance37097079770970797Humanname
408391533CV3521354single nucleotide variantNM_001349338.3(FOXP1):c.1026A>T (p.Arg342Ser)not provided [RCV004763176]uncertain significance37100100871001008Humanname
408389017CV3522860single nucleotide variantNM_001349338.3(FOXP1):c.1035G>A (p.Met345Ile)not provided [RCV004769241]uncertain significance37100099971000999Humanname
408393533CV3526179single nucleotide variantNM_001349338.3(FOXP1):c.1567T>C (p.Phe523Leu)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004771611]likely pathogenic37097264070972640Human1name
596928887CV3540600single nucleotide variantNM_001349338.3(FOXP1):c.1490G>C (p.Arg497Pro)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005249717]|not provided [RCV004794928]likely pathogenic37097698170976981Human1name
596928464CV3541500single nucleotide variantNM_001349338.3(FOXP1):c.1601G>A (p.Trp534Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004797372]likely pathogenic37097260670972606Human1name
596925391CV3542061single nucleotide variantNM_001349338.3(FOXP1):c.1595C>T (p.Ala532Val)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004795777]likely pathogenic37097261270972612Human1name
596943262CV3542855single nucleotide variantNM_001349338.3(FOXP1):c.1340T>C (p.Ile447Thr)not provided [RCV004798439]uncertain significance37097783670977836Humanname
12741700CV360857single nucleotide variantNM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala)Anterior creases of earlobe [RCV000414948]likely pathogenic37097767570977675Human4name
597669541CV3669803single nucleotide variantNM_001349338.3(FOXP1):c.1255C>T (p.Gln419Ter)Inborn genetic diseases [RCV004980076]pathogenic37097792170977921Human1name
12849953CV367721single nucleotide variantNM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001265469]|not provided [RCV000439016]pathogenic37097698270976982Human1name
12849429CV367724single nucleotide variantNM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu)Inborn genetic diseases [RCV003352866]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002289577]|not provided [RCV000429800]pathogenic|likely pathogenic37097696570976965Human2name
597927554CV3749027single nucleotide variantNM_001349338.3(FOXP1):c.1729A>G (p.Met577Val)not provided [RCV005075483]uncertain significance37096605070966050Humanname
597841993CV3752930single nucleotide variantNM_001349338.3(FOXP1):c.1066G>A (p.Ala356Thr)not provided [RCV005086659]uncertain significance37098807470988074Humanname
597846579CV3753094single nucleotide variantNM_001349338.3(FOXP1):c.1292C>T (p.Thr431Met)not provided [RCV005087319]uncertain significance37097788470977884Humanname
597907026CV3781420single nucleotide variantNM_001349338.3(FOXP1):c.1532A>G (p.Asn511Ser)not provided [RCV005128108]uncertain significance37097267570972675Humanname
597907075CV3781426single nucleotide variantNM_001349338.3(FOXP1):c.1988A>G (p.His663Arg)not provided [RCV005128114]uncertain significance37095929370959293Humanname
597897230CV3782261single nucleotide variantNM_001349338.3(FOXP1):c.1247C>T (p.Pro416Leu)not provided [RCV005126486]uncertain significance37097792970977929Humanname
597906419CV3785178single nucleotide variantNM_001349338.3(FOXP1):c.1070A>T (p.Lys357Ile)not provided [RCV005128021]uncertain significance37098807070988070Humanname
597969868CV3791742single nucleotide variantNM_001349338.3(FOXP1):c.1569T>G (p.Phe523Leu)not provided [RCV005141559]uncertain significance37097263870972638Humanname
597902247CV3792732single nucleotide variantNM_001349338.3(FOXP1):c.1187C>T (p.Ser396Leu)not provided [RCV005152884]uncertain significance37097798970977989Humanname
597954386CV3795771single nucleotide variantNM_001349338.3(FOXP1):c.1078G>A (p.Glu360Lys)not provided [RCV005136781]uncertain significance37098806270988062Humanname
597975680CV3799290single nucleotide variantNM_001349338.3(FOXP1):c.1547A>G (p.Asn516Ser)not provided [RCV005144686]uncertain significance37097266070972660Humanname
597898666CV3806983single nucleotide variantNM_001349338.3(FOXP1):c.1357G>A (p.Ala453Thr)not provided [RCV005152370]uncertain significance37097771470977714Humanname
597899905CV3835267single nucleotide variantNM_001349338.3(FOXP1):c.1585G>A (p.Val529Ile)not provided [RCV005180987]uncertain significance37097262270972622Humanname
597929814CV3862257single nucleotide variantNM_001349338.3(FOXP1):c.2017A>G (p.Asn673Asp)not provided [RCV005206498]uncertain significance37095926470959264Humanname
598124556CV3883589single nucleotide variantNM_001349338.3(FOXP1):c.1164T>G (p.Ser388Arg)not provided [RCV005235943]uncertain significance37097801270978012Humanname
598127312CV3888124single nucleotide variantNM_001349338.3(FOXP1):c.1895C>T (p.Pro632Leu)not provided [RCV005242810]uncertain significance37095938670959386Humanname
598176785CV3891117single nucleotide variantNM_001349338.3(FOXP1):c.1481G>A (p.Trp494Ter)not provided [RCV005251970]pathogenic37097699070976990Humanname
598238577CV3893317single nucleotide variantNM_001349338.3(FOXP1):c.1169C>T (p.Thr390Ile)not provided [RCV005256050]uncertain significance37097800770978007Humanname
598159518CV3897105single nucleotide variantNM_001349338.3(FOXP1):c.1478A>T (p.Asn493Ile)not provided [RCV005368079]uncertain significance37097699370976993Humanname
598217614CV3970009single nucleotide variantNM_001349338.3(FOXP1):c.1322A>C (p.Asp441Ala)Inborn genetic diseases [RCV005340041]uncertain significance37097785470977854Human1name
616935264CV4009420single nucleotide variantNM_001349338.3(FOXP1):c.1621T>A (p.Phe541Ile)not provided [RCV005402592]uncertain significance37097258670972586Humanname
616935298CV4009438single nucleotide variantNM_001349338.3(FOXP1):c.1801G>C (p.Ala601Pro)not provided [RCV005402610]uncertain significance37096597870965978Humanname
616938637CV4013242single nucleotide variantNM_001349338.3(FOXP1):c.1432A>G (p.Ile478Val)not provided [RCV005410709]uncertain significance37097703970977039Humanname
617153369CV4018559single nucleotide variantNM_001349338.3(FOXP1):c.1423A>T (p.Arg475Trp)not specified [RCV005418821]uncertain significance37097764870977648Humanname
617154158CV4022368single nucleotide variantNM_001349338.3(FOXP1):c.1573C>G (p.Arg525Gly)not provided [RCV005429725]likely pathogenic37097263470972634Humanname
12893835CV406362single nucleotide variantNM_001349338.3(FOXP1):c.1064T>C (p.Leu355Pro)not provided [RCV000480408]likely pathogenic37098807670988076Humanname
13215145CV428213single nucleotide variantNM_001349338.3(FOXP1):c.1405A>G (p.Thr469Ala)not specified [RCV000502085]uncertain significance37097766670977666Humanname
13509106CV481703single nucleotide variantNM_001349338.3(FOXP1):c.1177A>T (p.Lys393Ter)not provided [RCV000578980]pathogenic|likely pathogenic37097799970977999Humanname
13706315CV537428single nucleotide variantNM_001349338.3(FOXP1):c.1675A>T (p.Met559Leu)not provided [RCV000658966]uncertain significance37097078370970783Humanname
13796253CV551770single nucleotide variantNM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000678982]conflicting interpretations of pathogenicity|uncertain significance37097263970972639Human1name
13797967CV553167single nucleotide variantNM_001349338.3(FOXP1):c.1888G>T (p.Val630Leu)Intellectual disability [RCV000681491]|not provided [RCV005091993]likely benign|uncertain significance37096589170965891Human2name
13797973CV553169single nucleotide variantNM_001349338.3(FOXP1):c.1183G>A (p.Ala395Thr)Intellectual disability [RCV000681495]|not provided [RCV002531422]benign|likely benign|uncertain significance37097799370977993Human2name
13829320CV578997single nucleotide variantNM_001349338.3(FOXP1):c.1825G>A (p.Ala609Thr)Inborn genetic diseases [RCV002313612]|not provided [RCV000894751]benign|likely benign37096595470965954Human1name
13829494CV579064single nucleotide variantNM_001349338.3(FOXP1):c.1936G>A (p.Glu646Lys)Inborn genetic diseases [RCV002315346]uncertain significance37095934570959345Human1name
14396162CV611596single nucleotide variantNM_001349338.3(FOXP1):c.1476T>A (p.Tyr492Ter)not provided [RCV000760898]pathogenic37097699570976995Humanname
14399329CV614601single nucleotide variantNM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000768446]|Rare genetic intellectual disability [RCV001257017]|Seizure [RCV000851514]pathogenic|likely pathogenic37097257770972577Human5name
14979429CV678938single nucleotide variantNM_001349338.3(FOXP1):c.1000G>C (p.Asp334His)Intellectual disability [RCV000851506]likely pathogenic37100103471001034Human2name
8572508CV70500single nucleotide variantNM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)FOXP1-related disorder [RCV003934994]|Familial atrioventricular septal defect [RCV000049263]|Hypoplastic left heart syndrome 1 [RCV000049262]|Inborn genetic diseases [RCV002311531]|not provided [RCV000437146]|not specified [RCV000175486]association|benign|likely benign37097075670970756Human9name , alternate_id
15157509CV748513single nucleotide variantNM_001349338.3(FOXP1):c.1333G>A (p.Val445Met)FOXP1-related disorder [RCV003913120]|not provided [RCV000924875]benign|likely benign37097784370977843Human1name , alternate_id
21071211CV790416single nucleotide variantNM_001349338.3(FOXP1):c.1798A>G (p.Ser600Gly)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987286]uncertain significance37096598170965981Human1name
21071212CV790417single nucleotide variantNM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987287]likely pathogenic37097265770972657Human1name
21068599CV795471single nucleotide variantNM_001349338.3(FOXP1):c.1471A>T (p.Ile491Phe)not provided [RCV000998102]uncertain significance37097700070977000Humanname
28877631CV861564single nucleotide variantNM_001349338.3(FOXP1):c.1409A>T (p.Tyr470Phe)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001095670]pathogenic37097766270977662Human1name
34890425CV904285single nucleotide variantNM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002464401]|not provided [RCV001171584]likely pathogenic37097766570977665Human1name
38475886CV923355single nucleotide variantNM_001349338.3(FOXP1):c.1096A>G (p.Met366Val)not provided [RCV001215414]likely pathogenic37098804470988044Humanname
38597692CV964226single nucleotide variantNM_001349338.3(FOXP1):c.1541G>C (p.Arg514Pro)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253006]likely pathogenic37097266670972666Human1name
38597808CV964227single nucleotide variantNM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253157]|not provided [RCV004778031]likely pathogenic|uncertain significance37097699670976996Human1name
40814713CV970778single nucleotide variantNM_001349338.3(FOXP1):c.1747C>T (p.Pro583Ser)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001262227]|not provided [RCV005094251]uncertain significance37096603270966032Human1name
40886371CV972714single nucleotide variantNM_001349338.3(FOXP1):c.1544A>G (p.His515Arg)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001264731]likely pathogenic37097266370972663Human1name
40887487CV973383single nucleotide variantNM_001349338.3(FOXP1):c.1732G>A (p.Ala578Thr)Inborn genetic diseases [RCV001267110]uncertain significance37096604770966047Human1name
40887580CV973384single nucleotide variantNM_001349338.3(FOXP1):c.1631G>A (p.Arg544Gln)Inborn genetic diseases [RCV001267197]|not provided [RCV002274174]uncertain significance37097257670972576Human1name
40887361CV973387single nucleotide variantNM_001349338.3(FOXP1):c.1495T>C (p.Phe499Leu)Inborn genetic diseases [RCV001266905]uncertain significance37097697670976976Human1name
40889062CV975111single nucleotide variantNM_001349338.3(FOXP1):c.1319C>G (p.Ser440Ter)not provided [RCV001267903]pathogenic37097785770977857Humanname
13517274CV489120single nucleotide variantNM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr)FOXP1-related disorder [RCV003952947]|Inborn genetic diseases [RCV002315886]|not provided [RCV000906266]|not specified [RCV000596426]benign|likely benign|uncertain significance37096601770966017Human2alternate_id
153349220CV1694077duplicationNM_001349338.3(FOXP1):c.-298+4925_-298+4928dupIntellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002275612]uncertain significance37157662071576621Human1name
11658719CV296053indelNM_001349338.3(FOXP1):c.*3415delinsTGTGTGTGTGTIntellectual Disability with Language Impairment and Autistic Features [RCV000351471]uncertain significance37095583270955832Humanname
150491859CV1210434insertionNM_001349338.3(FOXP1):c.181-18423_181-18422insCnot provided [RCV001592716]likely benign37113105971131060Humanname
402509348CV2938525insertionNM_001349338.3(FOXP1):c.283-3_283-2insGGCTTCCTATTTATCCTTCATTAACATTCTGnot provided [RCV003662413]uncertain significance37105377571053776Humanname
13522808CV493973single nucleotide variantNM_001349338.3(FOXP1):c.1329C>A (p.Tyr443Ter)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004594083]|not provided [RCV000592209]pathogenic37097784770977847Human1name
13784028CV550596single nucleotide variantNM_001349338.3(FOXP1):c.1394G>C (p.Arg465Thr)Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000677699]pathogenic37097767770977677Human1name