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


223 records found for search term Ncapd2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
153349558CV1693574single nucleotide variantNM_014865.4(NCAPD2):c.839+7C>Tnot provided [RCV002275974]likely benign1265145946514594Humanname
155802775CV1857770single nucleotide variantNM_014865.4(NCAPD2):c.-23-1G>Anot provided [RCV002461619]uncertain significance1264950756495075Humanname
13706045CV537184single nucleotide variantNM_014865.4(NCAPD2):c.445-1G>Tnot provided [RCV000658633]likely pathogenic1265111096511109Humanname
150528590CV1288394single nucleotide variantNM_014865.4(NCAPD2):c.2735-6C>TInborn genetic diseases [RCV002538681]|not provided [RCV001726862]uncertain significance1265268856526885Human1name
150535957CV1312123single nucleotide variantNM_014865.4(NCAPD2):c.127+27C>TMicrocephaly 21, primary, autosomal recessive [RCV001779936]|not provided [RCV004707710]benign1264952526495252Human1name
155644730CV1710365single nucleotide variantNM_014865.4(NCAPD2):c.3964+2T>Cnot provided [RCV002293661]pathogenic1265308196530819Humanname
155923771CV2217712single nucleotide variantNM_014865.4(NCAPD2):c.3654-5T>AInborn genetic diseases [RCV002683221]uncertain significance1265297706529770Human1name
156255717CV2219693single nucleotide variantNM_014865.4(NCAPD2):c.2482-6C>TInborn genetic diseases [RCV002702718]uncertain significance1265262816526281Human1name
156383985CV2220257single nucleotide variantNM_014865.4(NCAPD2):c.3964+5G>AInborn genetic diseases [RCV002723120]uncertain significance1265308226530822Human1name
405274550CV3208869single nucleotide variantNM_014865.4(NCAPD2):c.3654-6C>TNCAPD2-related disorder [RCV003951666]likely benign1265297696529769Humanname , trait , alternate_id
13606497CV514850single nucleotide variantNM_014865.4(NCAPD2):c.4120+2T>CMicrocephaly 21, primary, autosomal recessive [RCV000627677]pathogenic1265310786531078Human1name
13706046CV537185single nucleotide variantNM_014865.4(NCAPD2):c.1954+1G>AMicrocephaly 21, primary, autosomal recessive [RCV004768514]|not provided [RCV000658634]likely pathogenic|conflicting interpretations of pathogenicity1265220386522038Human1name
15106740CV760244single nucleotide variantNM_014865.4(NCAPD2):c.2349-8T>Cnot provided [RCV000915812]likely benign1265260606526060Humanname
15169949CV778115single nucleotide variantNM_014865.4(NCAPD2):c.1185+8A>Gnot provided [RCV000949559]benign1265170336517033Humanname
150535960CV1312125single nucleotide variantNM_014865.4(NCAPD2):c.2566+30A>TMicrocephaly 21, primary, autosomal recessive [RCV001779938]|not provided [RCV004707711]benign1265264016526401Human1name
150535964CV1312128single nucleotide variantNM_014865.4(NCAPD2):c.3573-13C>TMicrocephaly 21, primary, autosomal recessive [RCV001779941]|not provided [RCV004707713]benign1265295006529500Human1name
405258795CV3203943single nucleotide variantNM_014865.4(NCAPD2):c.1590-10G>ANCAPD2-related disorder [RCV003942100]likely benign1265209766520976Humanname , trait , alternate_id
405285297CV3212341microsatelliteNM_014865.4(NCAPD2):c.988-12TC[3]NCAPD2-related disorder [RCV003958957]likely benign1265168166516817Humanname , trait , alternate_id
155977876CV2214927single nucleotide variantNM_014865.4(NCAPD2):c.8C>A (p.Pro3His)Inborn genetic diseases [RCV002688087]|NCAPD2-related disorder [RCV003946357]likely benign1264951066495106Human2name , trait , alternate_id
156380923CV2218396single nucleotide variantNM_014865.4(NCAPD2):c.5C>G (p.Ala2Gly)Inborn genetic diseases [RCV002722491]|NCAPD2-related disorder [RCV003936640]likely benign1264951036495103Human2name , trait , alternate_id
405280524CV3195530single nucleotide variantNM_014865.4(NCAPD2):c.243T>C (p.Thr81=)NCAPD2-related disorder [RCV003906775]benign1265101146510114Humanname , trait , alternate_id
155951052CV1936070single nucleotide variantNM_014865.4(NCAPD2):c.564A>C (p.Ser188=)not provided [RCV002511722]benign1265112296511229Humanname
15171967CV725232single nucleotide variantNM_014865.4(NCAPD2):c.366T>C (p.Tyr122=)not provided [RCV000883751]benign1265107326510732Humanname
150515737CV1227652single nucleotide variantNM_014865.4(NCAPD2):c.1920C>A (p.Ile640=)Microcephaly 21, primary, autosomal recessive [RCV001779271]|not provided [RCV001638926]benign1265220036522003Human1name
150535958CV1312124single nucleotide variantNM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu)Microcephaly 21, primary, autosomal recessive [RCV001779937]|not provided [RCV001847333]benign1265101186510118Human1name
155268130CV1705272single nucleotide variantNM_014865.4(NCAPD2):c.211C>T (p.Arg71Ter)not provided [RCV002285877]uncertain significance1265100826510082Humanname
405286528CV3192820single nucleotide variantNM_014865.4(NCAPD2):c.1344A>G (p.Gly448=)NCAPD2-related disorder [RCV003981551]likely benign1265176196517619Humanname , trait , alternate_id
405287878CV3203463single nucleotide variantNM_014865.4(NCAPD2):c.1026G>A (p.Ala342=)NCAPD2-related disorder [RCV003924647]likely benign1265168666516866Humanname , trait , alternate_id
405290933CV3203567single nucleotide variantNM_014865.4(NCAPD2):c.1653T>C (p.His551=)NCAPD2-related disorder [RCV003927309]likely benign1265210496521049Humanname , trait , alternate_id
405282179CV3210362single nucleotide variantNM_014865.4(NCAPD2):c.1695C>A (p.Ile565=)NCAPD2-related disorder [RCV003907411]benign1265210916521091Humanname , trait , alternate_id
405284377CV3213701single nucleotide variantNM_014865.4(NCAPD2):c.2682A>G (p.Ala894=)NCAPD2-related disorder [RCV003922261]likely benign1265265636526563Humanname , trait , alternate_id
405795359CV3336454single nucleotide variantNM_014865.4(NCAPD2):c.131T>C (p.Phe44Ser)Inborn genetic diseases [RCV004475507]uncertain significance1265097206509720Human1name
408377801CV3500834single nucleotide variantNM_014865.4(NCAPD2):c.2283C>T (p.Thr761=)not provided [RCV004722484]benign1265256516525651Humanname
596924711CV3532371single nucleotide variantNM_014865.4(NCAPD2):c.189C>G (p.Ile63Met)not provided [RCV004777482]uncertain significance1265097786509778Humanname
597720004CV3562251single nucleotide variantNM_014865.4(NCAPD2):c.100A>G (p.Ile34Val)Inborn genetic diseases [RCV004961394]likely benign1264951986495198Human1name
598216569CV3983651single nucleotide variantNM_014865.4(NCAPD2):c.157C>T (p.Pro53Ser)Inborn genetic diseases [RCV005378934]uncertain significance1265097466509746Human1name
598252834CV3983652single nucleotide variantNM_014865.4(NCAPD2):c.128C>G (p.Ala43Gly)Inborn genetic diseases [RCV005385234]uncertain significance1265097176509717Human1name
598252844CV3983659single nucleotide variantNM_014865.4(NCAPD2):c.115C>T (p.Pro39Ser)Inborn genetic diseases [RCV005385237]likely benign1264952136495213Human1name
15185418CV702471single nucleotide variantNM_014865.4(NCAPD2):c.1278G>A (p.Gln426=)not provided [RCV000952976]benign1265174576517457Humanname
126733057CV1000823single nucleotide variantNM_014865.4(NCAPD2):c.3288T>C (p.His1096=)NCAPD2-related disorder [RCV003908516]|not provided [RCV001310986]likely benign1265283176528317Human1name , trait , alternate_id
150528588CV1288393single nucleotide variantNM_014865.4(NCAPD2):c.649C>T (p.Arg217Cys)not provided [RCV001726861]uncertain significance1265143266514326Humanname
150535961CV1312126single nucleotide variantNM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=)Microcephaly 21, primary, autosomal recessive [RCV001779939]|not provided [RCV004709141]benign1265286796528679Human1name
150535963CV1312127single nucleotide variantNM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=)Microcephaly 21, primary, autosomal recessive [RCV001779940]|not provided [RCV004707712]benign1265289506528950Human1name
150535966CV1312129single nucleotide variantNM_014865.4(NCAPD2):c.3801A>G (p.Val1267=)Microcephaly 21, primary, autosomal recessive [RCV001779942]|not provided [RCV004707714]benign1265299226529922Human1name
151662999CV1330870deletionNM_014865.4(NCAPD2):c.2508del (p.Phe837fs)Microcephaly 21, primary, autosomal recessive [RCV001825047]likely pathogenic1265263076526307Human1name
153304471CV1687087single nucleotide variantNM_014865.4(NCAPD2):c.3195G>A (p.Lys1065=)NCAPD2-related disorder [RCV003933723]|not provided [RCV002262375]likely benign1265282246528224Human1name , trait , alternate_id
155951065CV1936071single nucleotide variantNM_014865.4(NCAPD2):c.3531C>T (p.Pro1177=)NCAPD2-related disorder [RCV003973413]|not provided [RCV002511723]likely benign1265289986528998Human1name , trait , alternate_id
155900807CV2298014single nucleotide variantNM_014865.4(NCAPD2):c.790C>G (p.Leu264Val)Inborn genetic diseases [RCV002901037]uncertain significance1265145386514538Human1name
156359610CV2328250single nucleotide variantNM_014865.4(NCAPD2):c.898T>A (p.Phe300Ile)Inborn genetic diseases [RCV002941139]uncertain significance1265148316514831Human1name
156146407CV2397416deletionNM_014865.4(NCAPD2):c.1384del (p.Ala462fs)Inborn genetic diseases [RCV002763847]pathogenic1265176576517657Human1name
401887569CV2773511single nucleotide variantNM_014865.4(NCAPD2):c.388T>A (p.Ser130Thr)Inborn genetic diseases [RCV003367235]uncertain significance1265107546510754Human1name
401899034CV2785965single nucleotide variantNM_014865.4(NCAPD2):c.620A>G (p.Glu207Gly)Inborn genetic diseases [RCV003377194]uncertain significance1265142976514297Human1name
401864790CV2791362single nucleotide variantNM_014865.4(NCAPD2):c.875G>A (p.Arg292Gln)Inborn genetic diseases [RCV003379130]uncertain significance1265148086514808Human1name
405292605CV3192712single nucleotide variantNM_014865.4(NCAPD2):c.3336G>A (p.Ala1112=)NCAPD2-related disorder [RCV003964585]likely benign1265287156528715Humanname , trait , alternate_id
405796026CV3336662single nucleotide variantNM_014865.4(NCAPD2):c.377G>A (p.Arg126His)Inborn genetic diseases [RCV004475715]uncertain significance1265107436510743Human1name
405796210CV3336721single nucleotide variantNM_014865.4(NCAPD2):c.679C>T (p.Leu227Phe)Inborn genetic diseases [RCV004475774]uncertain significance1265143566514356Human1name
405796223CV3336726single nucleotide variantNM_014865.4(NCAPD2):c.841G>A (p.Glu281Lys)Inborn genetic diseases [RCV004475779]uncertain significance1265147746514774Human1name
407521187CV3458289single nucleotide variantNM_014865.4(NCAPD2):c.813G>A (p.Met271Ile)Inborn genetic diseases [RCV004652446]uncertain significance1265145616514561Human1name
407521202CV3458296single nucleotide variantNM_014865.4(NCAPD2):c.821T>C (p.Ile274Thr)Inborn genetic diseases [RCV004652452]uncertain significance1265145696514569Human1name
597720032CV3562255single nucleotide variantNM_014865.4(NCAPD2):c.465G>C (p.Lys155Asn)Inborn genetic diseases [RCV004961398]uncertain significance1265111306511130Human1name
597720036CV3562256single nucleotide variantNM_014865.4(NCAPD2):c.655A>G (p.Thr219Ala)Inborn genetic diseases [RCV004961399]uncertain significance1265143326514332Human1name
597720059CV3562259single nucleotide variantNM_014865.4(NCAPD2):c.846T>G (p.Ile282Met)Inborn genetic diseases [RCV004961402]uncertain significance1265147796514779Human1name
597720102CV3562265single nucleotide variantNM_014865.4(NCAPD2):c.577G>A (p.Glu193Lys)Inborn genetic diseases [RCV004961408]uncertain significance1265112426511242Human1name
597720122CV3562267single nucleotide variantNM_014865.4(NCAPD2):c.808G>A (p.Gly270Arg)Inborn genetic diseases [RCV004961410]uncertain significance1265145566514556Human1name
598128980CV3886783single nucleotide variantNM_014865.4(NCAPD2):c.3000C>T (p.Cys1000=)not provided [RCV005244443]likely benign1265278696527869Humanname
598252837CV3983653single nucleotide variantNM_014865.4(NCAPD2):c.659G>A (p.Arg220Gln)Inborn genetic diseases [RCV005385235]uncertain significance1265143366514336Human1name
15117638CV713712single nucleotide variantNM_014865.4(NCAPD2):c.3828T>G (p.Pro1276=)not provided [RCV000962238]benign1265299496529949Humanname
15183608CV738835single nucleotide variantNM_014865.4(NCAPD2):c.3738T>C (p.Asn1246=)not provided [RCV000908096]likely benign1265298596529859Humanname
126726338CV1017676single nucleotide variantNM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile)Microcephaly 21, primary, autosomal recessive [RCV001331914]uncertain significance1265170066517006Human1name
126726339CV1017677single nucleotide variantNM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser)Inborn genetic diseases [RCV005372647]|Microcephaly 21, primary, autosomal recessive [RCV001331915]uncertain significance1265178966517896Human2name
155797452CV1860370single nucleotide variantNM_014865.4(NCAPD2):c.1612G>C (p.Glu538Gln)Inborn genetic diseases [RCV004067559]|NCAPD2-related disorder [RCV003961054]|not provided [RCV002467012]likely benign|uncertain significance1265210086521008Human2name , trait , alternate_id
155917910CV2195572single nucleotide variantNM_014865.4(NCAPD2):c.2223G>T (p.Glu741Asp)Inborn genetic diseases [RCV002682413]uncertain significance1265255916525591Human1name
156312124CV2196326single nucleotide variantNM_014865.4(NCAPD2):c.1216G>A (p.Val406Met)Inborn genetic diseases [RCV002648232]uncertain significance1265173956517395Human1name
156165956CV2200863single nucleotide variantNM_014865.4(NCAPD2):c.2699A>G (p.Lys900Arg)Inborn genetic diseases [RCV002664448]uncertain significance1265265806526580Human1name
155920479CV2215287single nucleotide variantNM_014865.4(NCAPD2):c.2512C>T (p.Arg838Trp)Inborn genetic diseases [RCV002727373]uncertain significance1265263176526317Human1name
156380145CV2218065single nucleotide variantNM_014865.4(NCAPD2):c.1769T>G (p.Val590Gly)Inborn genetic diseases [RCV002678541]likely benign1265218526521852Human1name
156126551CV2223692single nucleotide variantNM_014865.4(NCAPD2):c.1220C>G (p.Ala407Gly)Inborn genetic diseases [RCV002708186]uncertain significance1265173996517399Human1name
156043325CV2237437single nucleotide variantNM_014865.4(NCAPD2):c.1032G>A (p.Met344Ile)Inborn genetic diseases [RCV002781577]uncertain significance1265168726516872Human1name
156357074CV2253816single nucleotide variantNM_014865.4(NCAPD2):c.1767G>A (p.Met589Ile)Inborn genetic diseases [RCV002812252]uncertain significance1265218506521850Human1name
156101757CV2260363single nucleotide variantNM_014865.4(NCAPD2):c.2468C>T (p.Ser823Leu)Inborn genetic diseases [RCV002799170]uncertain significance1265261876526187Human1name
156001694CV2284510single nucleotide variantNM_014865.4(NCAPD2):c.1342G>A (p.Gly448Arg)Inborn genetic diseases [RCV002865413]uncertain significance1265176176517617Human1name
156004113CV2290110single nucleotide variantNM_014865.4(NCAPD2):c.1823C>A (p.Ser608Tyr)Inborn genetic diseases [RCV002883518]uncertain significance1265219066521906Human1name
156278171CV2316670single nucleotide variantNM_014865.4(NCAPD2):c.2503C>A (p.Pro835Thr)Inborn genetic diseases [RCV002934770]uncertain significance1265263086526308Human1name
156048608CV2319252single nucleotide variantNM_014865.4(NCAPD2):c.2363T>C (p.Ile788Thr)Inborn genetic diseases [RCV002949974]uncertain significance1265260826526082Human1name
156253286CV2325491single nucleotide variantNM_014865.4(NCAPD2):c.2006C>T (p.Pro669Leu)Inborn genetic diseases [RCV002959300]uncertain significance1265228796522879Human1name
155980154CV2343417single nucleotide variantNM_014865.4(NCAPD2):c.1472A>G (p.Gln491Arg)Inborn genetic diseases [RCV002946593]uncertain significance1265178426517842Human1name
156344476CV2346080single nucleotide variantNM_014865.4(NCAPD2):c.2506C>T (p.Pro836Ser)Inborn genetic diseases [RCV002965709]uncertain significance1265263116526311Human1name
156125552CV2350208single nucleotide variantNM_014865.4(NCAPD2):c.2498G>A (p.Arg833His)Inborn genetic diseases [RCV002981515]uncertain significance1265263036526303Human1name
155963157CV2388353single nucleotide variantNM_014865.4(NCAPD2):c.1132T>G (p.Ser378Ala)Inborn genetic diseases [RCV002754201]uncertain significance1265169726516972Human1name
156265922CV2389112single nucleotide variantNM_014865.4(NCAPD2):c.2384C>T (p.Thr795Ile)Inborn genetic diseases [RCV002769739]uncertain significance1265261036526103Human1name
243056723CV2418909single nucleotide variantNM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)not specified [RCV003155877]uncertain significance1265176816517681Humanname
329356289CV2442571single nucleotide variantNM_014865.4(NCAPD2):c.2524G>A (p.Glu842Lys)Inborn genetic diseases [RCV003203203]uncertain significance1265263296526329Human1name
329371843CV2454917single nucleotide variantNM_014865.4(NCAPD2):c.1459A>G (p.Lys487Glu)Inborn genetic diseases [RCV003209897]uncertain significance1265178296517829Human1name
329392258CV2470525single nucleotide variantNM_014865.4(NCAPD2):c.2276G>A (p.Arg759Gln)Inborn genetic diseases [RCV003217677]uncertain significance1265256446525644Human1name
401739016CV2673205single nucleotide variantNM_014865.4(NCAPD2):c.1490C>G (p.Pro497Arg)Inborn genetic diseases [RCV003250867]uncertain significance1265178606517860Human1name
401769215CV2693519single nucleotide variantNM_014865.4(NCAPD2):c.1895G>A (p.Arg632Gln)Inborn genetic diseases [RCV003260451]uncertain significance1265219786521978Human1name
401745921CV2695465single nucleotide variantNM_014865.4(NCAPD2):c.2059C>T (p.Pro687Ser)Inborn genetic diseases [RCV003275599]uncertain significance1265229326522932Human1name
401719194CV2704999single nucleotide variantNM_014865.4(NCAPD2):c.1166C>G (p.Thr389Ser)Inborn genetic diseases [RCV003266801]uncertain significance1265170066517006Human1name
401760942CV2706155single nucleotide variantNM_014865.4(NCAPD2):c.1597A>G (p.Ile533Val)Inborn genetic diseases [RCV003257391]uncertain significance1265209936520993Human1name
401741672CV2710013single nucleotide variantNM_014865.4(NCAPD2):c.1073C>G (p.Ala358Gly)Inborn genetic diseases [RCV003292653]uncertain significance1265169136516913Human1name
401765528CV2712833single nucleotide variantNM_014865.4(NCAPD2):c.2368G>A (p.Gly790Arg)Inborn genetic diseases [RCV003282293]uncertain significance1265260876526087Human1name
401764540CV2721365single nucleotide variantNM_014865.4(NCAPD2):c.1130A>C (p.Asn377Thr)Inborn genetic diseases [RCV003258600]uncertain significance1265169706516970Human1name
401783581CV2723731single nucleotide variantNM_014865.4(NCAPD2):c.1787G>A (p.Cys596Tyr)Inborn genetic diseases [RCV003309724]uncertain significance1265218706521870Human1name
401890026CV2758490single nucleotide variantNM_014865.4(NCAPD2):c.2526A>T (p.Glu842Asp)Inborn genetic diseases [RCV003368618]uncertain significance1265263316526331Human1name
401870434CV2769232single nucleotide variantNM_014865.4(NCAPD2):c.1234C>T (p.Arg412Cys)Inborn genetic diseases [RCV003346114]uncertain significance1265174136517413Human1name
401887111CV2775616single nucleotide variantNM_014865.4(NCAPD2):c.1912A>G (p.Ile638Val)Inborn genetic diseases [RCV003352205]uncertain significance1265219956521995Human1name
401896347CV2781099single nucleotide variantNM_014865.4(NCAPD2):c.1556G>A (p.Arg519His)Inborn genetic diseases [RCV003373954]uncertain significance1265179266517926Human1name
401882219CV2781574single nucleotide variantNM_014865.4(NCAPD2):c.1661C>T (p.Pro554Leu)Inborn genetic diseases [RCV003365215]uncertain significance1265210576521057Human1name
401905847CV2810095single nucleotide variantNM_014865.4(NCAPD2):c.1903A>C (p.Thr635Pro)NCAPD2-related disorder [RCV003906735]|not provided [RCV003396143]benign|likely benign1265219866521986Human1name , trait , alternate_id
405265299CV3190768single nucleotide variantNM_014865.4(NCAPD2):c.1901T>C (p.Ile634Thr)NCAPD2-related disorder [RCV003897345]likely benign1265219846521984Humanname , trait , alternate_id
405292139CV3199733single nucleotide variantNM_014865.4(NCAPD2):c.2507C>T (p.Pro836Leu)NCAPD2-related disorder [RCV003964400]benign1265263126526312Humanname , trait , alternate_id
405274474CV3208778single nucleotide variantNM_014865.4(NCAPD2):c.2162C>G (p.Ser721Cys)NCAPD2-related disorder [RCV003951587]likely benign1265232946523294Humanname , trait , alternate_id
405795356CV3336453single nucleotide variantNM_014865.4(NCAPD2):c.1303A>G (p.Asn435Asp)Inborn genetic diseases [RCV004475506]uncertain significance1265174826517482Human1name
405795402CV3336468single nucleotide variantNM_014865.4(NCAPD2):c.1503G>T (p.Glu501Asp)Inborn genetic diseases [RCV004475521]uncertain significance1265178736517873Human1name
405795488CV3336496single nucleotide variantNM_014865.4(NCAPD2):c.1793A>T (p.Asn598Ile)Inborn genetic diseases [RCV004475549]|not provided [RCV004759396]uncertain significance1265218766521876Human1name
405795498CV3336499single nucleotide variantNM_014865.4(NCAPD2):c.1802A>G (p.Asn601Ser)Inborn genetic diseases [RCV004475552]likely benign1265218856521885Human1name
405795509CV3336502single nucleotide variantNM_014865.4(NCAPD2):c.1808C>T (p.Ser603Leu)Inborn genetic diseases [RCV004475555]likely benign1265218916521891Human1name
405795537CV3336511single nucleotide variantNM_014865.4(NCAPD2):c.1826G>C (p.Arg609Thr)Inborn genetic diseases [RCV004475564]likely benign1265219096521909Human1name
405795840CV3336527single nucleotide variantNM_014865.4(NCAPD2):c.2077G>A (p.Val693Met)Inborn genetic diseases [RCV004475580]uncertain significance1265229506522950Human1name
405795815CV3336535single nucleotide variantNM_014865.4(NCAPD2):c.2299T>A (p.Cys767Ser)Inborn genetic diseases [RCV004475588]likely benign1265256676525667Human1name
405795658CV3336572single nucleotide variantNM_014865.4(NCAPD2):c.2741C>T (p.Ser914Phe)Inborn genetic diseases [RCV004475625]uncertain significance1265268976526897Human1name
405795675CV3336577single nucleotide variantNM_014865.4(NCAPD2):c.2771T>C (p.Met924Thr)Inborn genetic diseases [RCV004475630]uncertain significance1265269276526927Human1name
405795694CV3336583single nucleotide variantNM_014865.4(NCAPD2):c.2852G>A (p.Arg951Gln)Inborn genetic diseases [RCV004475636]uncertain significance1265270086527008Human1name
405795710CV3336588single nucleotide variantNM_014865.4(NCAPD2):c.2855G>A (p.Arg952His)Inborn genetic diseases [RCV004475641]uncertain significance1265270116527011Human1name
405795726CV3336593single nucleotide variantNM_014865.4(NCAPD2):c.2988C>G (p.Ile996Met)Inborn genetic diseases [RCV004475646]uncertain significance1265278576527857Human1name
407426504CV3411367single nucleotide variantNM_014865.4(NCAPD2):c.1451C>T (p.Pro484Leu)not provided [RCV004590544]uncertain significance1265178216517821Humanname
407521188CV3458290single nucleotide variantNM_014865.4(NCAPD2):c.1076G>A (p.Arg359Gln)Inborn genetic diseases [RCV004652447]uncertain significance1265169166516916Human1name
407521191CV3458291single nucleotide variantNM_014865.4(NCAPD2):c.2732C>T (p.Pro911Leu)Inborn genetic diseases [RCV004652448]likely benign1265266136526613Human1name
407521197CV3458294single nucleotide variantNM_014865.4(NCAPD2):c.2850C>G (p.Cys950Trp)Inborn genetic diseases [RCV004652450]uncertain significance1265270066527006Human1name
407521200CV3458295single nucleotide variantNM_014865.4(NCAPD2):c.1747C>T (p.Arg583Trp)Inborn genetic diseases [RCV004652451]uncertain significance1265218306521830Human1name
407488465CV3458297single nucleotide variantNM_014865.4(NCAPD2):c.2710A>G (p.Lys904Glu)Inborn genetic diseases [RCV004641278]uncertain significance1265265916526591Human1name
407521205CV3458298single nucleotide variantNM_014865.4(NCAPD2):c.1854G>C (p.Glu618Asp)Inborn genetic diseases [RCV004652453]uncertain significance1265219376521937Human1name
407521208CV3458299single nucleotide variantNM_014865.4(NCAPD2):c.1985T>A (p.Met662Lys)Inborn genetic diseases [RCV004652454]uncertain significance1265228586522858Human1name
407521210CV3458300single nucleotide variantNM_014865.4(NCAPD2):c.1986G>T (p.Met662Ile)Inborn genetic diseases [RCV004652455]uncertain significance1265228596522859Human1name
407521216CV3458302single nucleotide variantNM_014865.4(NCAPD2):c.2858G>A (p.Arg953Gln)Inborn genetic diseases [RCV004652457]uncertain significance1265270146527014Human1name
408381492CV3501942single nucleotide variantNM_014865.4(NCAPD2):c.2008C>T (p.Gln670Ter)Microcephaly 21, primary, autosomal recessive [RCV005392858]|not provided [RCV004729470]uncertain significance1265228816522881Human1name
408385940CV3520431single nucleotide variantNM_014865.4(NCAPD2):c.1232G>C (p.Gly411Ala)not provided [RCV004760252]uncertain significance1265174116517411Humanname
596924714CV3532374single nucleotide variantNM_014865.4(NCAPD2):c.1142G>A (p.Arg381Gln)not provided [RCV004777485]uncertain significance1265169826516982Humanname
596922328CV3537067single nucleotide variantNM_014865.4(NCAPD2):c.2599T>C (p.Phe867Leu)not provided [RCV004786062]uncertain significance1265264806526480Humanname
597719985CV3562248single nucleotide variantNM_014865.4(NCAPD2):c.1574C>T (p.Ala525Val)Inborn genetic diseases [RCV004961391]uncertain significance1265179446517944Human1name
597719996CV3562250single nucleotide variantNM_014865.4(NCAPD2):c.1627T>G (p.Phe543Val)Inborn genetic diseases [RCV004961393]likely benign1265210236521023Human1name
597720011CV3562252single nucleotide variantNM_014865.4(NCAPD2):c.2851C>T (p.Arg951Trp)Inborn genetic diseases [RCV004961395]uncertain significance1265270076527007Human1name
597720053CV3562258single nucleotide variantNM_014865.4(NCAPD2):c.1555C>A (p.Arg519Ser)Inborn genetic diseases [RCV004961401]uncertain significance1265179256517925Human1name
597720072CV3562261single nucleotide variantNM_014865.4(NCAPD2):c.1766T>C (p.Met589Thr)Inborn genetic diseases [RCV004961404]uncertain significance1265218496521849Human1name
597720078CV3562262single nucleotide variantNM_014865.4(NCAPD2):c.1106T>C (p.Leu369Ser)Inborn genetic diseases [RCV004961405]uncertain significance1265169466516946Human1name
597720129CV3562268single nucleotide variantNM_014865.4(NCAPD2):c.2828A>T (p.Gln943Leu)Inborn genetic diseases [RCV004961411]uncertain significance1265269846526984Human1name
598252825CV3983646single nucleotide variantNM_014865.4(NCAPD2):c.1913T>C (p.Ile638Thr)Inborn genetic diseases [RCV005385232]uncertain significance1265219966521996Human1name
598216561CV3983648single nucleotide variantNM_014865.4(NCAPD2):c.2507C>G (p.Pro836Arg)Inborn genetic diseases [RCV005378932]uncertain significance1265263126526312Human1name
598216563CV3983649single nucleotide variantNM_014865.4(NCAPD2):c.2430G>C (p.Arg810Ser)Inborn genetic diseases [RCV005378933]uncertain significance1265261496526149Human1name
598252830CV3983650single nucleotide variantNM_014865.4(NCAPD2):c.2867G>A (p.Arg956Gln)Inborn genetic diseases [RCV005385233]uncertain significance1265270236527023Human1name
598216586CV3983657single nucleotide variantNM_014865.4(NCAPD2):c.2005C>T (p.Pro669Ser)Inborn genetic diseases [RCV005378937]uncertain significance1265228786522878Human1name
598216598CV3983660single nucleotide variantNM_014865.4(NCAPD2):c.1201C>T (p.Arg401Cys)Inborn genetic diseases [RCV005378939]uncertain significance1265173806517380Human1name
598216608CV3983663single nucleotide variantNM_014865.4(NCAPD2):c.1783G>C (p.Val595Leu)Inborn genetic diseases [RCV005378941]uncertain significance1265218666521866Human1name
598208442CV4007700single nucleotide variantNM_014865.4(NCAPD2):c.2542C>T (p.Arg848Ter)Microcephaly 21, primary, autosomal recessive [RCV005400014]uncertain significance1265263476526347Human1name
14396775CV612960single nucleotide variantNM_014865.4(NCAPD2):c.2647G>A (p.Glu883Lys)Inborn genetic diseases [RCV002533882]|not provided [RCV000761815]uncertain significance1265265286526528Human1name
15138965CV713710single nucleotide variantNM_014865.4(NCAPD2):c.1739A>G (p.Lys580Arg)NCAPD2-related disorder [RCV003972846]|not provided [RCV000965882]benign|likely benign1265218226521822Human1name , trait , alternate_id
15149156CV753553single nucleotide variantNM_014865.4(NCAPD2):c.1009G>A (p.Val337Met)not provided [RCV000923232]likely benign|conflicting interpretations of pathogenicity1265168496516849Humanname
21074185CV796848single nucleotide variantNM_014865.4(NCAPD2):c.2854C>T (p.Arg952Cys)not provided [RCV000994830]uncertain significance1265270106527010Humanname
126726450CV1017678single nucleotide variantNM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val)Microcephaly 21, primary, autosomal recessive [RCV001331975]uncertain significance1265299516529951Human1name
150499374CV1224579single nucleotide variantNM_014865.4(NCAPD2):c.3962C>G (p.Thr1321Ser)not provided [RCV001620410]benign1265308156530815Humanname
155268761CV1705588single nucleotide variantNM_014865.4(NCAPD2):c.3532G>A (p.Glu1178Lys)not provided [RCV002286195]uncertain significance1265289996528999Humanname
155797421CV1860362single nucleotide variantNM_014865.4(NCAPD2):c.4190G>A (p.Arg1397His)Inborn genetic diseases [RCV004958552]|not provided [RCV002467004]uncertain significance1265313966531396Human1name
156116867CV2209122single nucleotide variantNM_014865.4(NCAPD2):c.4018C>T (p.Pro1340Ser)Inborn genetic diseases [RCV002707571]uncertain significance1265309746530974Human1name
156400843CV2217285single nucleotide variantNM_014865.4(NCAPD2):c.4064G>A (p.Arg1355Gln)Inborn genetic diseases [RCV002656702]uncertain significance1265310206531020Human1name
156181934CV2222249single nucleotide variantNM_014865.4(NCAPD2):c.3710A>G (p.Glu1237Gly)Inborn genetic diseases [RCV002742334]uncertain significance1265298316529831Human1name
156358783CV2260803single nucleotide variantNM_014865.4(NCAPD2):c.3392T>G (p.Val1131Gly)Inborn genetic diseases [RCV002812498]uncertain significance1265287716528771Human1name
155973291CV2271626single nucleotide variantNM_014865.4(NCAPD2):c.4124T>C (p.Leu1375Pro)Inborn genetic diseases [RCV002817903]uncertain significance1265313306531330Human1name
156267856CV2275578single nucleotide variantNM_014865.4(NCAPD2):c.3215G>A (p.Arg1072Gln)Inborn genetic diseases [RCV002832125]uncertain significance1265282446528244Human1name
156262947CV2287669single nucleotide variantNM_014865.4(NCAPD2):c.3424G>A (p.Glu1142Lys)Inborn genetic diseases [RCV002855537]uncertain significance1265288036528803Human1name
155932305CV2290591single nucleotide variantNM_014865.4(NCAPD2):c.3775A>C (p.Ile1259Leu)Inborn genetic diseases [RCV002861153]uncertain significance1265298966529896Human1name
156070431CV2316940single nucleotide variantNM_014865.4(NCAPD2):c.4134G>T (p.Glu1378Asp)Inborn genetic diseases [RCV002912319]uncertain significance1265313406531340Human1name
156083338CV2342990single nucleotide variantNM_014865.4(NCAPD2):c.4040G>A (p.Arg1347His)Inborn genetic diseases [RCV002951931]uncertain significance1265309966530996Human1name
155926174CV2348639single nucleotide variantNM_014865.4(NCAPD2):c.3559C>G (p.His1187Asp)Inborn genetic diseases [RCV002970075]uncertain significance1265290266529026Human1name
155918386CV2362591single nucleotide variantNM_014865.4(NCAPD2):c.4027C>T (p.Arg1343Cys)Inborn genetic diseases [RCV003012932]uncertain significance1265309836530983Human1name
156338212CV2370595single nucleotide variantNM_014865.4(NCAPD2):c.3917G>C (p.Gly1306Ala)Inborn genetic diseases [RCV002674125]uncertain significance1265307706530770Human1name
156252282CV2390020single nucleotide variantNM_014865.4(NCAPD2):c.3029C>G (p.Thr1010Arg)Inborn genetic diseases [RCV002768942]uncertain significance1265279776527977Human1name
156061579CV2392011single nucleotide variantNM_014865.4(NCAPD2):c.3253C>T (p.Arg1085Cys)Inborn genetic diseases [RCV002759952]uncertain significance1265282826528282Human1name
156113914CV2397106single nucleotide variantNM_014865.4(NCAPD2):c.3773C>A (p.Ser1258Tyr)Inborn genetic diseases [RCV002739895]uncertain significance1265298946529894Human1name
156088746CV2397498single nucleotide variantNM_014865.4(NCAPD2):c.3493A>G (p.Asn1165Asp)Inborn genetic diseases [RCV002784171]uncertain significance1265289606528960Human1name
156255991CV2397712single nucleotide variantNM_014865.4(NCAPD2):c.4028G>A (p.Arg1343His)Inborn genetic diseases [RCV002769155]uncertain significance1265309846530984Human1name
329381727CV2441512single nucleotide variantNM_014865.4(NCAPD2):c.4106A>G (p.Glu1369Gly)Inborn genetic diseases [RCV003175812]uncertain significance1265310626531062Human1name
329371880CV2454967single nucleotide variantNM_014865.4(NCAPD2):c.3812G>A (p.Arg1271Gln)Inborn genetic diseases [RCV003209935]uncertain significance1265299336529933Human1name
329394931CV2457738single nucleotide variantNM_014865.4(NCAPD2):c.3887G>A (p.Gly1296Asp)Inborn genetic diseases [RCV003194008]uncertain significance1265307406530740Human1name
329360399CV2458719single nucleotide variantNM_014865.4(NCAPD2):c.3716G>T (p.Gly1239Val)Inborn genetic diseases [RCV003204981]uncertain significance1265298376529837Human1name
329381957CV2467436single nucleotide variantNM_014865.4(NCAPD2):c.4012G>C (p.Val1338Leu)Inborn genetic diseases [RCV003213228]uncertain significance1265309686530968Human1name
401741274CV2680369single nucleotide variantNM_014865.4(NCAPD2):c.4184C>T (p.Ser1395Leu)Inborn genetic diseases [RCV003251418]uncertain significance1265313906531390Human1name
401775060CV2696207single nucleotide variantNM_014865.4(NCAPD2):c.3254G>A (p.Arg1085His)Inborn genetic diseases [RCV003285967]uncertain significance1265282836528283Human1name
401725325CV2726117single nucleotide variantNM_014865.4(NCAPD2):c.3450G>C (p.Lys1150Asn)Inborn genetic diseases [RCV003268929]uncertain significance1265288296528829Human1name
401891424CV2780459single nucleotide variantNM_014865.4(NCAPD2):c.3668A>C (p.Gln1223Pro)Inborn genetic diseases [RCV003369460]uncertain significance1265297896529789Human1name
405795757CV3336600single nucleotide variantNM_014865.4(NCAPD2):c.3049C>G (p.Leu1017Val)Inborn genetic diseases [RCV004475653]uncertain significance1265279976527997Human1name
405795773CV3336605single nucleotide variantNM_014865.4(NCAPD2):c.3169C>T (p.Arg1057Cys)Inborn genetic diseases [RCV004475658]uncertain significance1265281986528198Human1name
405795865CV3336610single nucleotide variantNM_014865.4(NCAPD2):c.3170G>A (p.Arg1057His)Inborn genetic diseases [RCV004475663]uncertain significance1265281996528199Human1name
405795948CV3336637single nucleotide variantNM_014865.4(NCAPD2):c.3518G>T (p.Arg1173Leu)Inborn genetic diseases [RCV004475690]uncertain significance1265289856528985Human1name
405795967CV3336643single nucleotide variantNM_014865.4(NCAPD2):c.3561C>A (p.His1187Gln)Inborn genetic diseases [RCV004475696]uncertain significance1265290286529028Human1name
405796058CV3336672single nucleotide variantNM_014865.4(NCAPD2):c.3922G>A (p.Ala1308Thr)Inborn genetic diseases [RCV004475725]uncertain significance1265307756530775Human1name
405796074CV3336677single nucleotide variantNM_014865.4(NCAPD2):c.3985G>T (p.Ala1329Ser)Inborn genetic diseases [RCV004475730]uncertain significance1265309416530941Human1name
405796096CV3336684single nucleotide variantNM_014865.4(NCAPD2):c.4019C>T (p.Pro1340Leu)Inborn genetic diseases [RCV004475737]uncertain significance1265309756530975Human1name
407488458CV3458288single nucleotide variantNM_014865.4(NCAPD2):c.3722G>A (p.Arg1241His)Inborn genetic diseases [RCV004641276]likely benign1265298436529843Human1name
407488463CV3458292single nucleotide variantNM_014865.4(NCAPD2):c.3644G>A (p.Arg1215His)Inborn genetic diseases [RCV004641277]uncertain significance1265295846529584Human1name
407521213CV3458301single nucleotide variantNM_014865.4(NCAPD2):c.3895G>A (p.Gly1299Arg)Inborn genetic diseases [RCV004652456]uncertain significance1265307486530748Human1name
407507108CV3496047single nucleotide variantNM_014865.4(NCAPD2):c.3683A>C (p.Tyr1228Ser)not provided [RCV004697887]uncertain significance1265298046529804Humanname
408381729CV3523959single nucleotide variantNM_014865.4(NCAPD2):c.3635A>C (p.Gln1212Pro)not provided [RCV004766357]uncertain significance1265295756529575Humanname
408389622CV3524665single nucleotide variantNM_014865.4(NCAPD2):c.4004A>G (p.Asn1335Ser)not provided [RCV004769560]uncertain significance1265309606530960Humanname
596925723CV3530560single nucleotide variantNM_014865.4(NCAPD2):c.3065G>A (p.Cys1022Tyr)not provided [RCV004778145]uncertain significance1265280136528013Humanname
597719991CV3562249single nucleotide variantNM_014865.4(NCAPD2):c.3335C>T (p.Ala1112Val)Inborn genetic diseases [RCV004961392]uncertain significance1265287146528714Human1name
597720018CV3562253single nucleotide variantNM_014865.4(NCAPD2):c.3662G>A (p.Arg1221Gln)Inborn genetic diseases [RCV004961396]uncertain significance1265297836529783Human1name
597720045CV3562257single nucleotide variantNM_014865.4(NCAPD2):c.4156A>C (p.Lys1386Gln)Inborn genetic diseases [RCV004961400]uncertain significance1265313626531362Human1name
597720065CV3562260single nucleotide variantNM_014865.4(NCAPD2):c.3326G>A (p.Arg1109Gln)Inborn genetic diseases [RCV004961403]uncertain significance1265287056528705Human1name
597720084CV3562263single nucleotide variantNM_014865.4(NCAPD2):c.4013T>C (p.Val1338Ala)Inborn genetic diseases [RCV004961406]uncertain significance1265309696530969Human1name
597720113CV3562266single nucleotide variantNM_014865.4(NCAPD2):c.3907C>G (p.Leu1303Val)Inborn genetic diseases [RCV004961409]uncertain significance1265307606530760Human1name
598216573CV3983654single nucleotide variantNM_014865.4(NCAPD2):c.3484G>A (p.Ala1162Thr)Inborn genetic diseases [RCV005378935]uncertain significance1265289516528951Human1name
598252842CV3983655single nucleotide variantNM_014865.4(NCAPD2):c.3141C>G (p.Ile1047Met)Inborn genetic diseases [RCV005385236]uncertain significance1265280896528089Human1name
598216590CV3983658single nucleotide variantNM_014865.4(NCAPD2):c.3490T>G (p.Tyr1164Asp)Inborn genetic diseases [RCV005378938]uncertain significance1265289576528957Human1name
598216603CV3983661single nucleotide variantNM_014865.4(NCAPD2):c.3775A>G (p.Ile1259Val)Inborn genetic diseases [RCV005378940]likely benign1265298966529896Human1name
598252849CV3983662single nucleotide variantNM_014865.4(NCAPD2):c.3133T>C (p.Cys1045Arg)Inborn genetic diseases [RCV005385238]uncertain significance1265280816528081Human1name
598252852CV3983664single nucleotide variantNM_014865.4(NCAPD2):c.4189C>T (p.Arg1397Cys)Inborn genetic diseases [RCV005385239]uncertain significance1265313956531395Human1name
15185422CV702472single nucleotide variantNM_014865.4(NCAPD2):c.3509T>C (p.Ile1170Thr)not provided [RCV000952977]likely benign1265289766528976Humanname
15176214CV702473single nucleotide variantNM_014865.4(NCAPD2):c.4147G>A (p.Glu1383Lys)NCAPD2-related disorder [RCV003913316]|not provided [RCV000950774]benign1265313536531353Human1name , trait , alternate_id
15138970CV713711single nucleotide variantNM_014865.4(NCAPD2):c.3653G>T (p.Arg1218Leu)NCAPD2-related disorder [RCV003926267]|not provided [RCV000965883]benign|likely benign1265295936529593Human1name , trait , alternate_id
598227459CV3895977deletionNM_014865.4(NCAPD2):c.806_807del (p.Tyr269fs)Microcephaly 21, primary, autosomal recessive [RCV005362243]likely pathogenic1265145536514554Human1name
401914504CV2830723microsatelliteNM_014865.4(NCAPD2):c.1150_1151del (p.Val384fs)not provided [RCV003442461]likely pathogenic1265169886516989Humanname
14396776CV612961microsatelliteNM_014865.4(NCAPD2):c.3454TTC[1] (p.Phe1153del)not provided [RCV000761816]uncertain significance1265288326528834Humanname
243062563CV2405037deletionNM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)Microcephaly 21, primary, autosomal recessive [RCV003140587]uncertain significance1265279996528002Human1name