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


197 records found for search term Necap1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156406037CV1894679single nucleotide variantNM_015509.4(NECAP1):c.95+3A>TDevelopmental and epileptic encephalopathy, 21 [RCV003070212]uncertain significance1280823868082386Human1name
156011268CV2011483single nucleotide variantNM_015509.4(NECAP1):c.95+4C>TDevelopmental and epileptic encephalopathy, 21 [RCV002690526]uncertain significance1280823878082387Human1name
15149206CV775931single nucleotide variantNM_015509.4(NECAP1):c.95+9C>TDevelopmental and epileptic encephalopathy, 21 [RCV001447508]likely benign1280823928082392Human1name
21074196CV796865single nucleotide variantNM_015509.4(NECAP1):c.96-4C>Tnot provided [RCV000994844]uncertain significance1280899328089932Humanname
151763399CV1407526single nucleotide variantNM_015509.4(NECAP1):c.492+3G>ADevelopmental and epileptic encephalopathy, 21 [RCV002044533]uncertain significance1280927878092787Human1name
151755406CV1417738single nucleotide variantNM_015509.4(NECAP1):c.95+16C>TDevelopmental and epileptic encephalopathy, 21 [RCV001894749]likely benign|uncertain significance1280823998082399Human1name
152100151CV1610783single nucleotide variantNM_015509.4(NECAP1):c.197-8T>CDevelopmental and epileptic encephalopathy, 21 [RCV002133171]likely benign1280901878090187Human1name
152025897CV1627700single nucleotide variantNM_015509.4(NECAP1):c.95+11C>TDevelopmental and epileptic encephalopathy, 21 [RCV002104366]likely benign1280823948082394Human1name
156160984CV1984601single nucleotide variantNM_015509.4(NECAP1):c.302-5C>TDevelopmental and epileptic encephalopathy, 21 [RCV002642407]likely benign1280917648091764Human1name
156304255CV1999732single nucleotide variantNM_015509.4(NECAP1):c.197-5G>CDevelopmental and epileptic encephalopathy, 21 [RCV002671303]likely benign1280901908090190Human1name
155957229CV2182555single nucleotide variantNM_015509.4(NECAP1):c.95+10C>GDevelopmental and epileptic encephalopathy, 21 [RCV003032750]likely benign1280823938082393Human1name
405142240CV3131243single nucleotide variantNM_015509.4(NECAP1):c.96-15C>TDevelopmental and epileptic encephalopathy, 21 [RCV003839283]likely benign1280899218089921Human1name
597931186CV3745930single nucleotide variantNM_015509.4(NECAP1):c.493-6T>CDevelopmental and epileptic encephalopathy, 21 [RCV005075916]likely benign1280928668092866Human1name
597939940CV3836465single nucleotide variantNM_015509.4(NECAP1):c.676+9A>GDevelopmental and epileptic encephalopathy, 21 [RCV005187486]likely benign1280930648093064Human1name
597905114CV3846274single nucleotide variantNM_015509.4(NECAP1):c.95+13A>CDevelopmental and epileptic encephalopathy, 21 [RCV005181897]likely benign1280823968082396Human1name
597881069CV3857384single nucleotide variantNM_015509.4(NECAP1):c.780-7C>GDevelopmental and epileptic encephalopathy, 21 [RCV005198999]likely benign1280960358096035Human1name
13624371CV527376single nucleotide variantNM_015509.4(NECAP1):c.383+3G>TDevelopmental and epileptic encephalopathy, 21 [RCV000652192]uncertain significance1280918538091853Human1name
15148674CV744757single nucleotide variantNM_015509.4(NECAP1):c.780-6T>Cnot provided [RCV000900770]likely benign1280960368096036Humanname
15194917CV760055single nucleotide variantNM_015509.4(NECAP1):c.492+7A>GDevelopmental and epileptic encephalopathy, 21 [RCV001459990]likely benign1280927918092791Human1name
34888597CV917818single nucleotide variantNM_015509.4(NECAP1):c.301+1G>ADevelopmental and epileptic encephalopathy, 21 [RCV001194672]pathogenic1280903008090300Human1name
127303484CV1143771single nucleotide variantNM_015509.4(NECAP1):c.383+10G>CDevelopmental and epileptic encephalopathy, 21 [RCV001479256]likely benign1280918608091860Human1name
151744946CV1473344single nucleotide variantNM_015509.4(NECAP1):c.196+12G>ADevelopmental and epileptic encephalopathy, 21 [RCV001912312]likely benign|uncertain significance1280900488090048Human1name
152051830CV1521602single nucleotide variantNM_015509.4(NECAP1):c.302-13A>GDevelopmental and epileptic encephalopathy, 21 [RCV002145783]likely benign1280917568091756Human1name
152071579CV1549164single nucleotide variantNM_015509.4(NECAP1):c.196+11C>TDevelopmental and epileptic encephalopathy, 21 [RCV002091658]likely benign1280900478090047Human1name
152078153CV1557693single nucleotide variantNM_015509.4(NECAP1):c.196+12G>CDevelopmental and epileptic encephalopathy, 21 [RCV002170199]likely benign1280900488090048Human1name
152061954CV1563654single nucleotide variantNM_015509.4(NECAP1):c.196+20C>GDevelopmental and epileptic encephalopathy, 21 [RCV002208794]likely benign1280900568090056Human1name
152041078CV1577857single nucleotide variantNM_015509.4(NECAP1):c.302-11G>ADevelopmental and epileptic encephalopathy, 21 [RCV002107754]likely benign1280917588091758Human1name
152101947CV1578966single nucleotide variantNM_015509.4(NECAP1):c.492+19A>GDevelopmental and epileptic encephalopathy, 21 [RCV002079111]benign1280928038092803Human1name
152035246CV1584876single nucleotide variantNM_015509.4(NECAP1):c.302-11G>TDevelopmental and epileptic encephalopathy, 21 [RCV002125222]likely benign1280917588091758Human1name
152053369CV1595807single nucleotide variantNM_015509.4(NECAP1):c.676+18A>GDevelopmental and epileptic encephalopathy, 21 [RCV002072653]likely benign1280930738093073Human1name
152095248CV1599595single nucleotide variantNM_015509.4(NECAP1):c.196+19C>TDevelopmental and epileptic encephalopathy, 21 [RCV002094749]likely benign1280900558090055Human1name
152162631CV1608949duplicationNM_015509.4(NECAP1):c.383+11dupDevelopmental and epileptic encephalopathy, 21 [RCV002104088]likely benign1280918608091861Human1name
152156740CV1615818single nucleotide variantNM_015509.4(NECAP1):c.492+15T>CDevelopmental and epileptic encephalopathy, 21 [RCV002158948]likely benign1280927998092799Human1name
152144975CV1616403single nucleotide variantNM_015509.4(NECAP1):c.492+18A>TDevelopmental and epileptic encephalopathy, 21 [RCV002120891]likely benign1280928028092802Human1name
152043096CV1621801single nucleotide variantNM_015509.4(NECAP1):c.301+14G>ADevelopmental and epileptic encephalopathy, 21 [RCV002108005]likely benign1280903138090313Human1name
152056442CV1635054single nucleotide variantNM_015509.4(NECAP1):c.197-12C>TDevelopmental and epileptic encephalopathy, 21 [RCV002089769]likely benign1280901838090183Human1name
152123288CV1641102single nucleotide variantNM_015509.4(NECAP1):c.780-13T>CDevelopmental and epileptic encephalopathy, 21 [RCV002098460]likely benign1280960298096029Human1name
152125052CV1646113single nucleotide variantNM_015509.4(NECAP1):c.301+15A>CDevelopmental and epileptic encephalopathy, 21 [RCV002217286]likely benign1280903148090314Human1name
156346077CV1868321single nucleotide variantNM_015509.4(NECAP1):c.301+13G>ADevelopmental and epileptic encephalopathy, 21 [RCV003064525]likely benign1280903128090312Human1name
156251897CV1883841single nucleotide variantNM_015509.4(NECAP1):c.677-12C>TDevelopmental and epileptic encephalopathy, 21 [RCV003086132]likely benign1280955898095589Human1name
156357790CV1891249single nucleotide variantNM_015509.4(NECAP1):c.302-12C>GDevelopmental and epileptic encephalopathy, 21 [RCV003091479]uncertain significance1280917578091757Human1name
156245997CV1996567single nucleotide variantNM_015509.4(NECAP1):c.197-16T>CDevelopmental and epileptic encephalopathy, 21 [RCV002668093]likely benign1280901798090179Human1name
155950041CV2058674deletionNM_015509.4(NECAP1):c.383+13delDevelopmental and epileptic encephalopathy, 21 [RCV002816215]likely benign1280918628091862Human1name
155950056CV2058675single nucleotide variantNM_015509.4(NECAP1):c.383+13T>ADevelopmental and epileptic encephalopathy, 21 [RCV002816216]likely benign1280918638091863Human1name
155921389CV2073721single nucleotide variantNM_015509.4(NECAP1):c.384-12G>ADevelopmental and epileptic encephalopathy, 21 [RCV002838333]likely benign1280926648092664Human1name
156311719CV2078751deletionNM_015509.4(NECAP1):c.677-17delDevelopmental and epileptic encephalopathy, 21 [RCV002898756]benign1280955818095581Human1name
156218891CV2107200single nucleotide variantNM_015509.4(NECAP1):c.197-19T>CDevelopmental and epileptic encephalopathy, 21 [RCV002918480]likely benign1280901768090176Human1name
156296066CV2111660single nucleotide variantNM_015509.4(NECAP1):c.676+10G>ADevelopmental and epileptic encephalopathy, 21 [RCV002922354]likely benign1280930658093065Human1name
405143990CV2911226single nucleotide variantNM_015509.4(NECAP1):c.779+19C>TDevelopmental and epileptic encephalopathy, 21 [RCV003584322]likely benign1280957228095722Human1name
405250521CV3073124single nucleotide variantNM_015509.4(NECAP1):c.384-15G>ADevelopmental and epileptic encephalopathy, 21 [RCV003747564]likely benign1280926618092661Human1name
405251365CV3077742single nucleotide variantNM_015509.4(NECAP1):c.383+15T>CDevelopmental and epileptic encephalopathy, 21 [RCV003747686]likely benign1280918658091865Human1name
407429667CV3414054single nucleotide variantNM_015509.4(NECAP1):c.384-33C>Gnot specified [RCV004595468]benign1280926438092643Humanname
407429672CV3414059single nucleotide variantNM_015509.4(NECAP1):c.779+68T>Cnot specified [RCV004595473]benign1280957718095771Humanname
597917263CV3741140single nucleotide variantNM_015509.4(NECAP1):c.676+16C>GDevelopmental and epileptic encephalopathy, 21 [RCV005074287]likely benign1280930718093071Human1name
597866308CV3742441deletionNM_015509.4(NECAP1):c.492+15delDevelopmental and epileptic encephalopathy, 21 [RCV005068057]benign1280927958092795Human1name
597906593CV3842866single nucleotide variantNM_015509.4(NECAP1):c.676+15T>CDevelopmental and epileptic encephalopathy, 21 [RCV005182172]likely benign1280930708093070Human1name
127266406CV1101428single nucleotide variantNM_015509.4(NECAP1):c.18G>A (p.Glu6=)Developmental and epileptic encephalopathy, 21 [RCV001429385]likely benign1280823068082306Human1name
127329761CV1143770single nucleotide variantNM_015509.4(NECAP1):c.13T>C (p.Leu5=)Developmental and epileptic encephalopathy, 21 [RCV001487669]likely benign1280823018082301Human1name
155947852CV2108223single nucleotide variantNM_015509.4(NECAP1):c.21C>T (p.Tyr7=)Developmental and epileptic encephalopathy, 21 [RCV002904884]likely benign1280823098082309Human1name
156173491CV2181302single nucleotide variantNM_015509.4(NECAP1):c.12G>A (p.Glu4=)Developmental and epileptic encephalopathy, 21 [RCV003057294]likely benign1280823008082300Human1name
152133267CV1544862single nucleotide variantNM_015509.4(NECAP1):c.39G>T (p.Val13=)Developmental and epileptic encephalopathy, 21 [RCV002177084]likely benign1280823278082327Human1name
152041196CV1555863single nucleotide variantNM_015509.4(NECAP1):c.93C>T (p.Tyr31=)Developmental and epileptic encephalopathy, 21 [RCV002188284]likely benign1280823818082381Human1name
156336584CV1906095single nucleotide variantNM_015509.4(NECAP1):c.81C>T (p.Ser27=)Developmental and epileptic encephalopathy, 21 [RCV003090102]likely benign1280823698082369Human1name
156365877CV2010729single nucleotide variantNM_015509.4(NECAP1):c.8C>G (p.Thr3Ser)Developmental and epileptic encephalopathy, 21 [RCV002676555]uncertain significance1280822968082296Human1name
156077067CV2083518single nucleotide variantNM_015509.4(NECAP1):c.30G>A (p.Val10=)Developmental and epileptic encephalopathy, 21 [RCV002847261]likely benign1280823188082318Human1name
156384568CV2128323single nucleotide variantNM_015509.4(NECAP1):c.51C>T (p.Val17=)Developmental and epileptic encephalopathy, 21 [RCV002943392]likely benign1280823398082339Human1name
401905920CV2810161single nucleotide variantNM_015509.4(NECAP1):c.84C>T (p.Asn28=)not provided [RCV003396199]likely benign1280823728082372Humanname
402512712CV3178408deletionNM_015509.4(NECAP1):c.780-12_780-10delDevelopmental and epileptic encephalopathy, 21 [RCV003879025]|NECAP1-related disorder [RCV003921387]likely benign1280960288096030Human1name , trait , alternate_id
15131402CV713761single nucleotide variantNM_015509.4(NECAP1):c.69G>A (p.Pro23=)Developmental and epileptic encephalopathy, 21 [RCV000964595]|NECAP1-related disorder [RCV003943132]|not provided [RCV002066384]benign|likely benign1280823578082357Human1name , trait , alternate_id
127303368CV1122915single nucleotide variantNM_015509.4(NECAP1):c.180C>T (p.Leu60=)Developmental and epileptic encephalopathy, 21 [RCV001454720]likely benign1280900208090020Human1name
151811711CV1349409single nucleotide variantNM_015509.4(NECAP1):c.195A>G (p.Ser65=)Developmental and epileptic encephalopathy, 21 [RCV001974839]uncertain significance1280900358090035Human1name
151797450CV1377054single nucleotide variantNM_015509.4(NECAP1):c.11A>G (p.Glu4Gly)Developmental and epileptic encephalopathy, 21 [RCV001917394]uncertain significance1280822998082299Human1name
152048251CV1519886single nucleotide variantNM_015509.4(NECAP1):c.126T>C (p.Asp42=)Developmental and epileptic encephalopathy, 21 [RCV002145339]likely benign1280899668089966Human1name
156173850CV2053484single nucleotide variantNM_015509.4(NECAP1):c.228A>G (p.Gln76=)Developmental and epileptic encephalopathy, 21 [RCV002802031]likely benign1280902268090226Human1name
156216586CV2111003single nucleotide variantNM_015509.4(NECAP1):c.26C>G (p.Ser9Cys)Developmental and epileptic encephalopathy, 21 [RCV002932284]uncertain significance1280823148082314Human1name
156112225CV2136242single nucleotide variantNM_015509.4(NECAP1):c.117C>T (p.Asp39=)Developmental and epileptic encephalopathy, 21 [RCV003002643]likely benign1280899578089957Human1name
405250253CV2993156single nucleotide variantNM_015509.4(NECAP1):c.210T>C (p.Ala70=)Developmental and epileptic encephalopathy, 21 [RCV003747314]likely benign1280902088090208Human1name
13624369CV527350single nucleotide variantNM_015509.4(NECAP1):c.10G>A (p.Glu4Lys)Developmental and epileptic encephalopathy, 21 [RCV000652190]uncertain significance1280822988082298Human1name
13624420CV527373single nucleotide variantNM_015509.4(NECAP1):c.252G>A (p.Thr84=)Developmental and epileptic encephalopathy, 21 [RCV000652193]likely benign1280902508090250Human1name
15175278CV702520single nucleotide variantNM_015509.4(NECAP1):c.114A>G (p.Leu38=)Developmental and epileptic encephalopathy, 21 [RCV000950539]|not provided [RCV003392707]likely benign1280899548089954Human1name
126773394CV1010617single nucleotide variantNM_015509.4(NECAP1):c.83A>T (p.Asn28Ile)Developmental and epileptic encephalopathy, 21 [RCV001324305]uncertain significance1280823718082371Human1name
127277400CV1079668single nucleotide variantNM_015509.4(NECAP1):c.714G>A (p.Thr238=)Developmental and epileptic encephalopathy, 21 [RCV001407773]likely benign1280956388095638Human1name
127263237CV1101429single nucleotide variantNM_015509.4(NECAP1):c.315C>T (p.Phe105=)Developmental and epileptic encephalopathy, 21 [RCV001439237]likely benign1280917828091782Human1name
127279465CV1101430single nucleotide variantNM_015509.4(NECAP1):c.648G>T (p.Pro216=)Developmental and epileptic encephalopathy, 21 [RCV001445810]likely benign1280930278093027Human1name
127265714CV1101431single nucleotide variantNM_015509.4(NECAP1):c.804G>A (p.Gln268=)Developmental and epileptic encephalopathy, 21 [RCV001429173]likely benign1280960668096066Human1name
127307386CV1122916single nucleotide variantNM_015509.4(NECAP1):c.516T>C (p.Gly172=)Developmental and epileptic encephalopathy, 21 [RCV001455774]|not provided [RCV004704572]likely benign1280928958092895Human1name
127312740CV1143772single nucleotide variantNM_015509.4(NECAP1):c.594C>T (p.Pro198=)Developmental and epileptic encephalopathy, 21 [RCV001502001]likely benign1280929738092973Human1name
151799869CV1403933single nucleotide variantNM_015509.4(NECAP1):c.77C>T (p.Ala26Val)Developmental and epileptic encephalopathy, 21 [RCV001973808]uncertain significance1280823658082365Human1name
151869850CV1436522single nucleotide variantNM_015509.4(NECAP1):c.68C>T (p.Pro23Leu)Developmental and epileptic encephalopathy, 21 [RCV002018795]uncertain significance1280823568082356Human1name
152171242CV1562211single nucleotide variantNM_015509.4(NECAP1):c.570G>A (p.Pro190=)Developmental and epileptic encephalopathy, 21 [RCV002183433]likely benign1280929498092949Human1name
152113750CV1623975single nucleotide variantNM_015509.4(NECAP1):c.372G>A (p.Gln124=)Developmental and epileptic encephalopathy, 21 [RCV002134824]likely benign1280918398091839Human1name
152094007CV1634359single nucleotide variantNM_015509.4(NECAP1):c.723A>G (p.Ala241=)Developmental and epileptic encephalopathy, 21 [RCV002213114]likely benign1280956478095647Human1name
152068737CV1662364single nucleotide variantNM_015509.4(NECAP1):c.648G>A (p.Pro216=)Developmental and epileptic encephalopathy, 21 [RCV002111158]|NECAP1-related disorder [RCV004756358]likely benign1280930278093027Human1name , trait , alternate_id
156409142CV1877606single nucleotide variantNM_015509.4(NECAP1):c.573A>G (p.Pro191=)Developmental and epileptic encephalopathy, 21 [RCV003071545]likely benign1280929528092952Human1name
156437494CV1947500single nucleotide variantNM_015509.4(NECAP1):c.579C>A (p.Gly193=)Developmental and epileptic encephalopathy, 21 [RCV003107032]likely benign1280929588092958Human1name
156364286CV2003452single nucleotide variantNM_015509.4(NECAP1):c.531G>A (p.Arg177=)Developmental and epileptic encephalopathy, 21 [RCV002676453]likely benign1280929108092910Human1name
156114132CV2065589single nucleotide variantNM_015509.4(NECAP1):c.765C>T (p.Phe255=)Developmental and epileptic encephalopathy, 21 [RCV002871012]uncertain significance1280956898095689Human1name
156123621CV2089889single nucleotide variantNM_015509.4(NECAP1):c.555C>T (p.Ser185=)Developmental and epileptic encephalopathy, 21 [RCV002889661]likely benign1280929348092934Human1name
156266975CV2171667single nucleotide variantNM_015509.4(NECAP1):c.88G>C (p.Gly30Arg)Developmental and epileptic encephalopathy, 21 [RCV003026854]uncertain significance1280823768082376Human1name
401905922CV2810162single nucleotide variantNM_015509.4(NECAP1):c.456C>G (p.Gly152=)not provided [RCV003396200]likely benign1280927488092748Humanname
401905923CV2810163single nucleotide variantNM_015509.4(NECAP1):c.717A>G (p.Thr239=)not provided [RCV003396201]likely benign1280956418095641Humanname
405248490CV2939530single nucleotide variantNM_015509.4(NECAP1):c.393G>A (p.Lys131=)Developmental and epileptic encephalopathy, 21 [RCV003746779]likely benign1280926858092685Human1name
405248304CV2944509single nucleotide variantNM_015509.4(NECAP1):c.351C>T (p.Phe117=)Developmental and epileptic encephalopathy, 21 [RCV003746734]likely benign1280918188091818Human1name
405247144CV3017779single nucleotide variantNM_015509.4(NECAP1):c.681C>A (p.Ile227=)Developmental and epileptic encephalopathy, 21 [RCV003746109]likely benign1280956058095605Human1name
405185980CV3152829single nucleotide variantNM_015509.4(NECAP1):c.810C>T (p.Ser270=)Developmental and epileptic encephalopathy, 21 [RCV003842820]likely benign1280960728096072Human1name
597891180CV3805083single nucleotide variantNM_015509.4(NECAP1):c.420T>G (p.Ser140=)Developmental and epileptic encephalopathy, 21 [RCV005151345]likely benign1280927128092712Human1name
598129359CV3888655single nucleotide variantNM_015509.4(NECAP1):c.792C>T (p.Asn264=)not provided [RCV005244829]likely benign1280960548096054Humanname
13822539CV567066single nucleotide variantNM_015509.4(NECAP1):c.56T>C (p.Val19Ala)Developmental and epileptic encephalopathy, 21 [RCV000697456]uncertain significance1280823448082344Human1name
15175417CV702521single nucleotide variantNM_015509.4(NECAP1):c.417A>G (p.Glu139=)Developmental and epileptic encephalopathy, 21 [RCV001472795]likely benign1280927098092709Human1name
15201070CV725292single nucleotide variantNM_015509.4(NECAP1):c.489C>T (p.Ile163=)Developmental and epileptic encephalopathy, 21 [RCV001416589]|not provided [RCV003392681]likely benign1280927818092781Human1name
15120506CV769318single nucleotide variantNM_015509.4(NECAP1):c.546G>A (p.Gly182=)Developmental and epileptic encephalopathy, 21 [RCV001499313]likely benign1280929258092925Human1name
15102567CV769319single nucleotide variantNM_015509.4(NECAP1):c.570G>T (p.Pro190=)Developmental and epileptic encephalopathy, 21 [RCV000937015]likely benign1280929498092949Human1name
38597723CV964400single nucleotide variantNM_015509.4(NECAP1):c.88G>A (p.Gly30Ser)Developmental and epileptic encephalopathy, 21 [RCV001253048]uncertain significance1280823768082376Human1name
126749982CV1010618single nucleotide variantNM_015509.4(NECAP1):c.136C>T (p.Arg46Cys)Developmental and epileptic encephalopathy, 21 [RCV001326641]uncertain significance1280899768089976Human1name
126754047CV1010619single nucleotide variantNM_015509.4(NECAP1):c.244G>A (p.Val82Met)Developmental and epileptic encephalopathy, 21 [RCV001327420]uncertain significance1280902428090242Human1name
151848444CV1353121single nucleotide variantNM_015509.4(NECAP1):c.161A>C (p.Lys54Thr)Developmental and epileptic encephalopathy, 21 [RCV001922445]uncertain significance1280900018090001Human1name
8689266CV137078single nucleotide variantNM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)Developmental and epileptic encephalopathy, 21 [RCV000119841]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters1280899828089982Human1name
151880954CV1437234single nucleotide variantNM_015509.4(NECAP1):c.217C>T (p.Pro73Ser)Developmental and epileptic encephalopathy, 21 [RCV001999566]uncertain significance1280902158090215Human1name
151758122CV1443612single nucleotide variantNM_015509.4(NECAP1):c.131C>A (p.Thr44Asn)Developmental and epileptic encephalopathy, 21 [RCV001872932]uncertain significance1280899718089971Human1name
151760568CV1448589single nucleotide variantNM_015509.4(NECAP1):c.137G>A (p.Arg46His)Developmental and epileptic encephalopathy, 21 [RCV001949089]uncertain significance1280899778089977Human1name
151881160CV1475626single nucleotide variantNM_015509.4(NECAP1):c.178C>T (p.Leu60Phe)Developmental and epileptic encephalopathy, 21 [RCV001961692]uncertain significance1280900188090018Human1name
151852000CV1476065single nucleotide variantNM_015509.4(NECAP1):c.100T>A (p.Ser34Thr)Developmental and epileptic encephalopathy, 21 [RCV001996084]uncertain significance1280899408089940Human1name
156285697CV1929719single nucleotide variantNM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)Developmental and epileptic encephalopathy, 21 [RCV002628605]uncertain significance1280902398090239Human1name
156356353CV2188884single nucleotide variantNM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)Developmental and epileptic encephalopathy, 21 [RCV003048715]uncertain significance1280902348090234Human1name
329356891CV2460604single nucleotide variantNM_015509.4(NECAP1):c.205T>C (p.Phe69Leu)Inborn genetic diseases [RCV003203484]uncertain significance1280902038090203Human1name
404985771CV2852343single nucleotide variantNM_015509.4(NECAP1):c.291G>T (p.Gln97His)NECAP1-related disorder [RCV004731542]|not specified [RCV003489585]uncertain significance1280902898090289Human1name , trait , alternate_id
408395112CV3522402single nucleotide variantNM_015509.4(NECAP1):c.182A>T (p.Glu61Val)not provided [RCV004765477]uncertain significance1280900228090022Humanname
13471795CV462754single nucleotide variantNM_015509.4(NECAP1):c.268C>T (p.Arg90Cys)Developmental and epileptic encephalopathy, 21 [RCV000547050]uncertain significance1280902668090266Human1name
13495027CV463223single nucleotide variantNM_015509.4(NECAP1):c.251C>T (p.Thr84Met)Developmental and epileptic encephalopathy, 21 [RCV000536844]|Inborn genetic diseases [RCV002526707]|not provided [RCV003392401]uncertain significance1280902498090249Human2name
13624368CV527889single nucleotide variantNM_015509.4(NECAP1):c.134G>C (p.Gly45Ala)Developmental and epileptic encephalopathy, 21 [RCV000652189]uncertain significance1280899748089974Human1name
26907748CV840299single nucleotide variantNM_015509.4(NECAP1):c.214G>T (p.Ala72Ser)Developmental and epileptic encephalopathy, 21 [RCV001052354]uncertain significance1280902128090212Human1name
126765267CV1010620single nucleotide variantNM_015509.4(NECAP1):c.305G>A (p.Arg102His)Developmental and epileptic encephalopathy, 21 [RCV001319978]|Inborn genetic diseases [RCV002546072]uncertain significance1280917728091772Human2name
126772401CV1010621single nucleotide variantNM_015509.4(NECAP1):c.758G>A (p.Gly253Glu)Developmental and epileptic encephalopathy, 21 [RCV001323734]|Inborn genetic diseases [RCV004035108]uncertain significance1280956828095682Human2name
126749032CV1031134single nucleotide variantNM_015509.4(NECAP1):c.797C>T (p.Ala266Val)Developmental and epileptic encephalopathy, 21 [RCV001351977]uncertain significance1280960598096059Human1name
126772619CV1031135single nucleotide variantNM_015509.4(NECAP1):c.812A>G (p.Asn271Ser)Developmental and epileptic encephalopathy, 21 [RCV001345720]uncertain significance1280960748096074Human1name
126909995CV1048126single nucleotide variantNM_015509.4(NECAP1):c.734T>C (p.Val245Ala)Developmental and epileptic encephalopathy, 21 [RCV001368719]uncertain significance1280956588095658Human1name
126915686CV1048127single nucleotide variantNM_015509.4(NECAP1):c.746A>G (p.Asn249Ser)Developmental and epileptic encephalopathy, 21 [RCV001360133]uncertain significance1280956708095670Human1name
151890423CV1350531single nucleotide variantNM_015509.4(NECAP1):c.674C>G (p.Ala225Gly)Developmental and epileptic encephalopathy, 21 [RCV002038813]uncertain significance1280930538093053Human1name
151810817CV1376567single nucleotide variantNM_015509.4(NECAP1):c.437G>A (p.Arg146His)Developmental and epileptic encephalopathy, 21 [RCV001899928]|Inborn genetic diseases [RCV003355578]uncertain significance1280927298092729Human2name
151832076CV1377987single nucleotide variantNM_015509.4(NECAP1):c.376C>T (p.His126Tyr)Developmental and epileptic encephalopathy, 21 [RCV002014403]|Inborn genetic diseases [RCV002545568]uncertain significance1280918438091843Human2name
151742571CV1389279single nucleotide variantNM_015509.4(NECAP1):c.595C>T (p.Pro199Ser)Developmental and epileptic encephalopathy, 21 [RCV002042378]uncertain significance1280929748092974Human1name
151820532CV1398243single nucleotide variantNM_015509.4(NECAP1):c.818T>C (p.Val273Ala)Developmental and epileptic encephalopathy, 21 [RCV002013331]uncertain significance1280960808096080Human1name
151788572CV1403339single nucleotide variantNM_015509.4(NECAP1):c.713C>T (p.Thr238Met)Developmental and epileptic encephalopathy, 21 [RCV001916589]uncertain significance1280956378095637Human1name
151772049CV1404679single nucleotide variantNM_015509.4(NECAP1):c.581A>T (p.Lys194Ile)Developmental and epileptic encephalopathy, 21 [RCV002045339]uncertain significance1280929608092960Human1name
151770909CV1410845single nucleotide variantNM_015509.4(NECAP1):c.653C>T (p.Ser218Phe)Developmental and epileptic encephalopathy, 21 [RCV001971175]uncertain significance1280930328093032Human1name
151721733CV1421826single nucleotide variantNM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr)Developmental and epileptic encephalopathy, 21 [RCV001909839]uncertain significance1280930328093032Human1name
151816010CV1427135single nucleotide variantNM_015509.4(NECAP1):c.518C>T (p.Ala173Val)Developmental and epileptic encephalopathy, 21 [RCV001878744]|Inborn genetic diseases [RCV002551638]uncertain significance1280928978092897Human2name
151755268CV1449218single nucleotide variantNM_015509.4(NECAP1):c.647C>T (p.Pro216Leu)Developmental and epileptic encephalopathy, 21 [RCV001986691]|Inborn genetic diseases [RCV005374996]uncertain significance1280930268093026Human2name
151778406CV1449766single nucleotide variantNM_015509.4(NECAP1):c.782C>G (p.Ser261Cys)Developmental and epileptic encephalopathy, 21 [RCV002009506]uncertain significance1280960448096044Human1name
151738160CV1455019single nucleotide variantNM_015509.4(NECAP1):c.422A>G (p.Gln141Arg)Developmental and epileptic encephalopathy, 21 [RCV002005539]uncertain significance1280927148092714Human1name
151759972CV1459351single nucleotide variantNM_015509.4(NECAP1):c.430G>A (p.Asp144Asn)Developmental and epileptic encephalopathy, 21 [RCV002044158]uncertain significance1280927228092722Human1name
151793718CV1482638single nucleotide variantNM_015509.4(NECAP1):c.539G>A (p.Arg180Lys)Developmental and epileptic encephalopathy, 21 [RCV002047347]uncertain significance1280929188092918Human1name
151804995CV1485749single nucleotide variantNM_015509.4(NECAP1):c.790A>G (p.Asn264Asp)Developmental and epileptic encephalopathy, 21 [RCV002048326]uncertain significance1280960528096052Human1name
151727019CV1488381single nucleotide variantNM_015509.4(NECAP1):c.449A>G (p.Asp150Gly)Developmental and epileptic encephalopathy, 21 [RCV001966720]uncertain significance1280927418092741Human1name
151870965CV1488665single nucleotide variantNM_015509.4(NECAP1):c.331A>G (p.Thr111Ala)Developmental and epileptic encephalopathy, 21 [RCV002035660]uncertain significance1280917988091798Human1name
151846769CV1495323single nucleotide variantNM_015509.4(NECAP1):c.640C>T (p.Pro214Ser)Developmental and epileptic encephalopathy, 21 [RCV001978384]uncertain significance1280930198093019Human1name
151709700CV1501932single nucleotide variantNM_015509.4(NECAP1):c.772G>A (p.Ala258Thr)Developmental and epileptic encephalopathy, 21 [RCV001907731]uncertain significance1280956968095696Human1name
151818989CV1513900single nucleotide variantNM_015509.4(NECAP1):c.562C>A (p.Pro188Thr)Developmental and epileptic encephalopathy, 21 [RCV001933957]uncertain significance1280929418092941Human1name
151889119CV1516140single nucleotide variantNM_015509.4(NECAP1):c.779G>A (p.Ser260Asn)Developmental and epileptic encephalopathy, 21 [RCV002038537]uncertain significance1280957038095703Human1name
151870126CV1516869single nucleotide variantNM_015509.4(NECAP1):c.346G>T (p.Ala116Ser)Developmental and epileptic encephalopathy, 21 [RCV001981187]uncertain significance1280918138091813Human1name
155672017CV1773967single nucleotide variantNM_015509.4(NECAP1):c.515G>T (p.Gly172Val)Developmental and epileptic encephalopathy, 21 [RCV002297538]uncertain significance1280928948092894Human1name
156405792CV1884620single nucleotide variantNM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)Developmental and epileptic encephalopathy, 21 [RCV003070134]uncertain significance1280930438093043Human1name
156412868CV1886988single nucleotide variantNM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)Developmental and epileptic encephalopathy, 21 [RCV003073066]uncertain significance1280918058091805Human1name
156202743CV1925782single nucleotide variantNM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)Developmental and epileptic encephalopathy, 21 [RCV002643693]uncertain significance1280918048091804Human1name
156385423CV1998008single nucleotide variantNM_015509.4(NECAP1):c.709G>A (p.Val237Ile)Developmental and epileptic encephalopathy, 21 [RCV002653957]uncertain significance1280956338095633Human1name
155985147CV2030375single nucleotide variantNM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)Developmental and epileptic encephalopathy, 21 [RCV002755506]uncertain significance1280927718092771Human1name
155955601CV2033386single nucleotide variantNM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)Developmental and epileptic encephalopathy, 21 [RCV002730911]|Inborn genetic diseases [RCV002730912]uncertain significance1280956308095630Human2name
156174190CV2051841single nucleotide variantNM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)Developmental and epileptic encephalopathy, 21 [RCV002828087]uncertain significance1280926908092690Human1name
155927006CV2099638single nucleotide variantNM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)Developmental and epileptic encephalopathy, 21 [RCV002903624]uncertain significance1280929658092965Human1name
156190067CV2148714single nucleotide variantNM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)Developmental and epileptic encephalopathy, 21 [RCV003005972]uncertain significance1280929218092921Human1name
156371484CV2174585single nucleotide variantNM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)Developmental and epileptic encephalopathy, 21 [RCV003049735]uncertain significance1280956248095624Human1name
156226125CV2176435single nucleotide variantNM_015509.4(NECAP1):c.427A>G (p.Met143Val)Developmental and epileptic encephalopathy, 21 [RCV003059132]uncertain significance1280927198092719Human1name
156402065CV2191418single nucleotide variantNM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)Developmental and epileptic encephalopathy, 21 [RCV003052403]uncertain significance1280928948092894Human1name
401740860CV2702673single nucleotide variantNM_015509.4(NECAP1):c.751T>G (p.Leu251Val)Inborn genetic diseases [RCV003292468]uncertain significance1280956758095675Human1name
401906153CV2802512single nucleotide variantNM_015509.4(NECAP1):c.565C>A (p.Pro189Thr)NECAP1-related disorder [RCV003421096]uncertain significance1280929448092944Humanname , trait , alternate_id
405869560CV2832053microsatelliteNM_015509.4(NECAP1):c.38_39del (p.Val13fs)not provided [RCV004573064]pathogenic1280823208082321Humanname
405038508CV3140916single nucleotide variantNM_015509.4(NECAP1):c.822G>C (p.Gln274His)Developmental and epileptic encephalopathy, 21 [RCV003831209]uncertain significance1280960848096084Human1name
597721339CV3555783single nucleotide variantNM_015509.4(NECAP1):c.605C>T (p.Ser202Phe)Inborn genetic diseases [RCV004961567]uncertain significance1280929848092984Human1name
598231416CV3990605single nucleotide variantNM_015509.4(NECAP1):c.434C>G (p.Ala145Gly)Inborn genetic diseases [RCV005381354]uncertain significance1280927268092726Human1name
13492461CV462491single nucleotide variantNM_015509.4(NECAP1):c.581A>G (p.Lys194Arg)Developmental and epileptic encephalopathy, 21 [RCV000557465]|Inborn genetic diseases [RCV002526708]uncertain significance1280929608092960Human2name
13493577CV462492single nucleotide variantNM_015509.4(NECAP1):c.670G>A (p.Asp224Asn)Developmental and epileptic encephalopathy, 21 [RCV000535781]|NECAP1-related disorder [RCV003925703]|not provided [RCV004707339]benign|conflicting interpretations of pathogenicity|uncertain significance1280930498093049Human1name , trait , alternate_id
13478869CV463233single nucleotide variantNM_015509.4(NECAP1):c.791A>G (p.Asn264Ser)Developmental and epileptic encephalopathy, 21 [RCV000550257]uncertain significance1280960538096053Human1name
13624370CV527379single nucleotide variantNM_015509.4(NECAP1):c.715A>T (p.Thr239Ser)Developmental and epileptic encephalopathy, 21 [RCV000652191]uncertain significance1280956398095639Human1name
14706995CV641395single nucleotide variantNM_015509.4(NECAP1):c.442A>G (p.Lys148Glu)Developmental and epileptic encephalopathy, 21 [RCV000808615]uncertain significance1280927348092734Human1name
14738571CV641396single nucleotide variantNM_015509.4(NECAP1):c.569C>G (p.Pro190Arg)Developmental and epileptic encephalopathy, 21 [RCV000804559]uncertain significance1280929488092948Human1name
14731001CV641397single nucleotide variantNM_015509.4(NECAP1):c.727A>G (p.Thr243Ala)Developmental and epileptic encephalopathy, 21 [RCV000817637]uncertain significance1280956518095651Human1name
15126282CV738881single nucleotide variantNM_015509.4(NECAP1):c.709G>C (p.Val237Leu)Developmental and epileptic encephalopathy, 21 [RCV000896908]|NECAP1-related disorder [RCV003950484]likely benign1280956338095633Human1name , trait , alternate_id
26905207CV840300single nucleotide variantNM_015509.4(NECAP1):c.794A>T (p.Gln265Leu)Developmental and epileptic encephalopathy, 21 [RCV001051205]uncertain significance1280960568096056Human1name
38475439CV936273single nucleotide variantNM_015509.4(NECAP1):c.352G>A (p.Asp118Asn)Developmental and epileptic encephalopathy, 21 [RCV001204276]|not provided [RCV003129732]uncertain significance1280918198091819Human1name
38470915CV936274single nucleotide variantNM_015509.4(NECAP1):c.629T>C (p.Val210Ala)Developmental and epileptic encephalopathy, 21 [RCV001202655]uncertain significance1280930088093008Human1name
38496129CV956950single nucleotide variantNM_015509.4(NECAP1):c.436C>T (p.Arg146Cys)Developmental and epileptic encephalopathy, 21 [RCV001242361]uncertain significance1280927288092728Human1name
38490853CV956951single nucleotide variantNM_015509.4(NECAP1):c.437G>T (p.Arg146Leu)Developmental and epileptic encephalopathy, 21 [RCV001239086]uncertain significance1280927298092729Human1name
38500173CV956952single nucleotide variantNM_015509.4(NECAP1):c.487A>G (p.Ile163Val)Developmental and epileptic encephalopathy, 21 [RCV001245637]uncertain significance1280927798092779Human1name
38464392CV956953single nucleotide variantNM_015509.4(NECAP1):c.753G>T (p.Leu251Phe)Developmental and epileptic encephalopathy, 21 [RCV001247386]uncertain significance1280956778095677Human1name
126766657CV995380single nucleotide variantNM_015509.4(NECAP1):c.569C>T (p.Pro190Leu)Developmental and epileptic encephalopathy, 21 [RCV001301972]|not provided [RCV001509421]uncertain significance1280929488092948Human1name
243058481CV2405049microsatelliteNM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)Developmental and epileptic encephalopathy, 21 [RCV003140599]likely pathogenic1280823198082320Humanname
155988139CV2056353deletionNM_015509.4(NECAP1):c.258_273del (p.Asp87fs)Developmental and epileptic encephalopathy, 21 [RCV002819076]pathogenic1280902548090269Human1name