| 156406037 | CV1894679 | single nucleotide variant | NM_015509.4(NECAP1):c.95+3A>T | Developmental and epileptic encephalopathy, 21 [RCV003070212] | uncertain significance | 12 | 8082386 | 8082386 | Human | 1 | name |
| 156011268 | CV2011483 | single nucleotide variant | NM_015509.4(NECAP1):c.95+4C>T | Developmental and epileptic encephalopathy, 21 [RCV002690526] | uncertain significance | 12 | 8082387 | 8082387 | Human | 1 | name |
| 15149206 | CV775931 | single nucleotide variant | NM_015509.4(NECAP1):c.95+9C>T | Developmental and epileptic encephalopathy, 21 [RCV001447508] | likely benign | 12 | 8082392 | 8082392 | Human | 1 | name |
| 21074196 | CV796865 | single nucleotide variant | NM_015509.4(NECAP1):c.96-4C>T | not provided [RCV000994844] | uncertain significance | 12 | 8089932 | 8089932 | Human | | name |
| 151763399 | CV1407526 | single nucleotide variant | NM_015509.4(NECAP1):c.492+3G>A | Developmental and epileptic encephalopathy, 21 [RCV002044533] | uncertain significance | 12 | 8092787 | 8092787 | Human | 1 | name |
| 151755406 | CV1417738 | single nucleotide variant | NM_015509.4(NECAP1):c.95+16C>T | Developmental and epileptic encephalopathy, 21 [RCV001894749] | likely benign|uncertain significance | 12 | 8082399 | 8082399 | Human | 1 | name |
| 152100151 | CV1610783 | single nucleotide variant | NM_015509.4(NECAP1):c.197-8T>C | Developmental and epileptic encephalopathy, 21 [RCV002133171] | likely benign | 12 | 8090187 | 8090187 | Human | 1 | name |
| 152025897 | CV1627700 | single nucleotide variant | NM_015509.4(NECAP1):c.95+11C>T | Developmental and epileptic encephalopathy, 21 [RCV002104366] | likely benign | 12 | 8082394 | 8082394 | Human | 1 | name |
| 156160984 | CV1984601 | single nucleotide variant | NM_015509.4(NECAP1):c.302-5C>T | Developmental and epileptic encephalopathy, 21 [RCV002642407] | likely benign | 12 | 8091764 | 8091764 | Human | 1 | name |
| 156304255 | CV1999732 | single nucleotide variant | NM_015509.4(NECAP1):c.197-5G>C | Developmental and epileptic encephalopathy, 21 [RCV002671303] | likely benign | 12 | 8090190 | 8090190 | Human | 1 | name |
| 155957229 | CV2182555 | single nucleotide variant | NM_015509.4(NECAP1):c.95+10C>G | Developmental and epileptic encephalopathy, 21 [RCV003032750] | likely benign | 12 | 8082393 | 8082393 | Human | 1 | name |
| 405142240 | CV3131243 | single nucleotide variant | NM_015509.4(NECAP1):c.96-15C>T | Developmental and epileptic encephalopathy, 21 [RCV003839283] | likely benign | 12 | 8089921 | 8089921 | Human | 1 | name |
| 597931186 | CV3745930 | single nucleotide variant | NM_015509.4(NECAP1):c.493-6T>C | Developmental and epileptic encephalopathy, 21 [RCV005075916] | likely benign | 12 | 8092866 | 8092866 | Human | 1 | name |
| 597939940 | CV3836465 | single nucleotide variant | NM_015509.4(NECAP1):c.676+9A>G | Developmental and epileptic encephalopathy, 21 [RCV005187486] | likely benign | 12 | 8093064 | 8093064 | Human | 1 | name |
| 597905114 | CV3846274 | single nucleotide variant | NM_015509.4(NECAP1):c.95+13A>C | Developmental and epileptic encephalopathy, 21 [RCV005181897] | likely benign | 12 | 8082396 | 8082396 | Human | 1 | name |
| 597881069 | CV3857384 | single nucleotide variant | NM_015509.4(NECAP1):c.780-7C>G | Developmental and epileptic encephalopathy, 21 [RCV005198999] | likely benign | 12 | 8096035 | 8096035 | Human | 1 | name |
| 13624371 | CV527376 | single nucleotide variant | NM_015509.4(NECAP1):c.383+3G>T | Developmental and epileptic encephalopathy, 21 [RCV000652192] | uncertain significance | 12 | 8091853 | 8091853 | Human | 1 | name |
| 15148674 | CV744757 | single nucleotide variant | NM_015509.4(NECAP1):c.780-6T>C | not provided [RCV000900770] | likely benign | 12 | 8096036 | 8096036 | Human | | name |
| 15194917 | CV760055 | single nucleotide variant | NM_015509.4(NECAP1):c.492+7A>G | Developmental and epileptic encephalopathy, 21 [RCV001459990] | likely benign | 12 | 8092791 | 8092791 | Human | 1 | name |
| 34888597 | CV917818 | single nucleotide variant | NM_015509.4(NECAP1):c.301+1G>A | Developmental and epileptic encephalopathy, 21 [RCV001194672] | pathogenic | 12 | 8090300 | 8090300 | Human | 1 | name |
| 127303484 | CV1143771 | single nucleotide variant | NM_015509.4(NECAP1):c.383+10G>C | Developmental and epileptic encephalopathy, 21 [RCV001479256] | likely benign | 12 | 8091860 | 8091860 | Human | 1 | name |
| 151744946 | CV1473344 | single nucleotide variant | NM_015509.4(NECAP1):c.196+12G>A | Developmental and epileptic encephalopathy, 21 [RCV001912312] | likely benign|uncertain significance | 12 | 8090048 | 8090048 | Human | 1 | name |
| 152051830 | CV1521602 | single nucleotide variant | NM_015509.4(NECAP1):c.302-13A>G | Developmental and epileptic encephalopathy, 21 [RCV002145783] | likely benign | 12 | 8091756 | 8091756 | Human | 1 | name |
| 152071579 | CV1549164 | single nucleotide variant | NM_015509.4(NECAP1):c.196+11C>T | Developmental and epileptic encephalopathy, 21 [RCV002091658] | likely benign | 12 | 8090047 | 8090047 | Human | 1 | name |
| 152078153 | CV1557693 | single nucleotide variant | NM_015509.4(NECAP1):c.196+12G>C | Developmental and epileptic encephalopathy, 21 [RCV002170199] | likely benign | 12 | 8090048 | 8090048 | Human | 1 | name |
| 152061954 | CV1563654 | single nucleotide variant | NM_015509.4(NECAP1):c.196+20C>G | Developmental and epileptic encephalopathy, 21 [RCV002208794] | likely benign | 12 | 8090056 | 8090056 | Human | 1 | name |
| 152041078 | CV1577857 | single nucleotide variant | NM_015509.4(NECAP1):c.302-11G>A | Developmental and epileptic encephalopathy, 21 [RCV002107754] | likely benign | 12 | 8091758 | 8091758 | Human | 1 | name |
| 152101947 | CV1578966 | single nucleotide variant | NM_015509.4(NECAP1):c.492+19A>G | Developmental and epileptic encephalopathy, 21 [RCV002079111] | benign | 12 | 8092803 | 8092803 | Human | 1 | name |
| 152035246 | CV1584876 | single nucleotide variant | NM_015509.4(NECAP1):c.302-11G>T | Developmental and epileptic encephalopathy, 21 [RCV002125222] | likely benign | 12 | 8091758 | 8091758 | Human | 1 | name |
| 152053369 | CV1595807 | single nucleotide variant | NM_015509.4(NECAP1):c.676+18A>G | Developmental and epileptic encephalopathy, 21 [RCV002072653] | likely benign | 12 | 8093073 | 8093073 | Human | 1 | name |
| 152095248 | CV1599595 | single nucleotide variant | NM_015509.4(NECAP1):c.196+19C>T | Developmental and epileptic encephalopathy, 21 [RCV002094749] | likely benign | 12 | 8090055 | 8090055 | Human | 1 | name |
| 152162631 | CV1608949 | duplication | NM_015509.4(NECAP1):c.383+11dup | Developmental and epileptic encephalopathy, 21 [RCV002104088] | likely benign | 12 | 8091860 | 8091861 | Human | 1 | name |
| 152156740 | CV1615818 | single nucleotide variant | NM_015509.4(NECAP1):c.492+15T>C | Developmental and epileptic encephalopathy, 21 [RCV002158948] | likely benign | 12 | 8092799 | 8092799 | Human | 1 | name |
| 152144975 | CV1616403 | single nucleotide variant | NM_015509.4(NECAP1):c.492+18A>T | Developmental and epileptic encephalopathy, 21 [RCV002120891] | likely benign | 12 | 8092802 | 8092802 | Human | 1 | name |
| 152043096 | CV1621801 | single nucleotide variant | NM_015509.4(NECAP1):c.301+14G>A | Developmental and epileptic encephalopathy, 21 [RCV002108005] | likely benign | 12 | 8090313 | 8090313 | Human | 1 | name |
| 152056442 | CV1635054 | single nucleotide variant | NM_015509.4(NECAP1):c.197-12C>T | Developmental and epileptic encephalopathy, 21 [RCV002089769] | likely benign | 12 | 8090183 | 8090183 | Human | 1 | name |
| 152123288 | CV1641102 | single nucleotide variant | NM_015509.4(NECAP1):c.780-13T>C | Developmental and epileptic encephalopathy, 21 [RCV002098460] | likely benign | 12 | 8096029 | 8096029 | Human | 1 | name |
| 152125052 | CV1646113 | single nucleotide variant | NM_015509.4(NECAP1):c.301+15A>C | Developmental and epileptic encephalopathy, 21 [RCV002217286] | likely benign | 12 | 8090314 | 8090314 | Human | 1 | name |
| 156346077 | CV1868321 | single nucleotide variant | NM_015509.4(NECAP1):c.301+13G>A | Developmental and epileptic encephalopathy, 21 [RCV003064525] | likely benign | 12 | 8090312 | 8090312 | Human | 1 | name |
| 156251897 | CV1883841 | single nucleotide variant | NM_015509.4(NECAP1):c.677-12C>T | Developmental and epileptic encephalopathy, 21 [RCV003086132] | likely benign | 12 | 8095589 | 8095589 | Human | 1 | name |
| 156357790 | CV1891249 | single nucleotide variant | NM_015509.4(NECAP1):c.302-12C>G | Developmental and epileptic encephalopathy, 21 [RCV003091479] | uncertain significance | 12 | 8091757 | 8091757 | Human | 1 | name |
| 156245997 | CV1996567 | single nucleotide variant | NM_015509.4(NECAP1):c.197-16T>C | Developmental and epileptic encephalopathy, 21 [RCV002668093] | likely benign | 12 | 8090179 | 8090179 | Human | 1 | name |
| 155950041 | CV2058674 | deletion | NM_015509.4(NECAP1):c.383+13del | Developmental and epileptic encephalopathy, 21 [RCV002816215] | likely benign | 12 | 8091862 | 8091862 | Human | 1 | name |
| 155950056 | CV2058675 | single nucleotide variant | NM_015509.4(NECAP1):c.383+13T>A | Developmental and epileptic encephalopathy, 21 [RCV002816216] | likely benign | 12 | 8091863 | 8091863 | Human | 1 | name |
| 155921389 | CV2073721 | single nucleotide variant | NM_015509.4(NECAP1):c.384-12G>A | Developmental and epileptic encephalopathy, 21 [RCV002838333] | likely benign | 12 | 8092664 | 8092664 | Human | 1 | name |
| 156311719 | CV2078751 | deletion | NM_015509.4(NECAP1):c.677-17del | Developmental and epileptic encephalopathy, 21 [RCV002898756] | benign | 12 | 8095581 | 8095581 | Human | 1 | name |
| 156218891 | CV2107200 | single nucleotide variant | NM_015509.4(NECAP1):c.197-19T>C | Developmental and epileptic encephalopathy, 21 [RCV002918480] | likely benign | 12 | 8090176 | 8090176 | Human | 1 | name |
| 156296066 | CV2111660 | single nucleotide variant | NM_015509.4(NECAP1):c.676+10G>A | Developmental and epileptic encephalopathy, 21 [RCV002922354] | likely benign | 12 | 8093065 | 8093065 | Human | 1 | name |
| 405143990 | CV2911226 | single nucleotide variant | NM_015509.4(NECAP1):c.779+19C>T | Developmental and epileptic encephalopathy, 21 [RCV003584322] | likely benign | 12 | 8095722 | 8095722 | Human | 1 | name |
| 405250521 | CV3073124 | single nucleotide variant | NM_015509.4(NECAP1):c.384-15G>A | Developmental and epileptic encephalopathy, 21 [RCV003747564] | likely benign | 12 | 8092661 | 8092661 | Human | 1 | name |
| 405251365 | CV3077742 | single nucleotide variant | NM_015509.4(NECAP1):c.383+15T>C | Developmental and epileptic encephalopathy, 21 [RCV003747686] | likely benign | 12 | 8091865 | 8091865 | Human | 1 | name |
| 407429667 | CV3414054 | single nucleotide variant | NM_015509.4(NECAP1):c.384-33C>G | not specified [RCV004595468] | benign | 12 | 8092643 | 8092643 | Human | | name |
| 407429672 | CV3414059 | single nucleotide variant | NM_015509.4(NECAP1):c.779+68T>C | not specified [RCV004595473] | benign | 12 | 8095771 | 8095771 | Human | | name |
| 597917263 | CV3741140 | single nucleotide variant | NM_015509.4(NECAP1):c.676+16C>G | Developmental and epileptic encephalopathy, 21 [RCV005074287] | likely benign | 12 | 8093071 | 8093071 | Human | 1 | name |
| 597866308 | CV3742441 | deletion | NM_015509.4(NECAP1):c.492+15del | Developmental and epileptic encephalopathy, 21 [RCV005068057] | benign | 12 | 8092795 | 8092795 | Human | 1 | name |
| 597906593 | CV3842866 | single nucleotide variant | NM_015509.4(NECAP1):c.676+15T>C | Developmental and epileptic encephalopathy, 21 [RCV005182172] | likely benign | 12 | 8093070 | 8093070 | Human | 1 | name |
| 127266406 | CV1101428 | single nucleotide variant | NM_015509.4(NECAP1):c.18G>A (p.Glu6=) | Developmental and epileptic encephalopathy, 21 [RCV001429385] | likely benign | 12 | 8082306 | 8082306 | Human | 1 | name |
| 127329761 | CV1143770 | single nucleotide variant | NM_015509.4(NECAP1):c.13T>C (p.Leu5=) | Developmental and epileptic encephalopathy, 21 [RCV001487669] | likely benign | 12 | 8082301 | 8082301 | Human | 1 | name |
| 155947852 | CV2108223 | single nucleotide variant | NM_015509.4(NECAP1):c.21C>T (p.Tyr7=) | Developmental and epileptic encephalopathy, 21 [RCV002904884] | likely benign | 12 | 8082309 | 8082309 | Human | 1 | name |
| 156173491 | CV2181302 | single nucleotide variant | NM_015509.4(NECAP1):c.12G>A (p.Glu4=) | Developmental and epileptic encephalopathy, 21 [RCV003057294] | likely benign | 12 | 8082300 | 8082300 | Human | 1 | name |
| 152133267 | CV1544862 | single nucleotide variant | NM_015509.4(NECAP1):c.39G>T (p.Val13=) | Developmental and epileptic encephalopathy, 21 [RCV002177084] | likely benign | 12 | 8082327 | 8082327 | Human | 1 | name |
| 152041196 | CV1555863 | single nucleotide variant | NM_015509.4(NECAP1):c.93C>T (p.Tyr31=) | Developmental and epileptic encephalopathy, 21 [RCV002188284] | likely benign | 12 | 8082381 | 8082381 | Human | 1 | name |
| 156336584 | CV1906095 | single nucleotide variant | NM_015509.4(NECAP1):c.81C>T (p.Ser27=) | Developmental and epileptic encephalopathy, 21 [RCV003090102] | likely benign | 12 | 8082369 | 8082369 | Human | 1 | name |
| 156365877 | CV2010729 | single nucleotide variant | NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser) | Developmental and epileptic encephalopathy, 21 [RCV002676555] | uncertain significance | 12 | 8082296 | 8082296 | Human | 1 | name |
| 156077067 | CV2083518 | single nucleotide variant | NM_015509.4(NECAP1):c.30G>A (p.Val10=) | Developmental and epileptic encephalopathy, 21 [RCV002847261] | likely benign | 12 | 8082318 | 8082318 | Human | 1 | name |
| 156384568 | CV2128323 | single nucleotide variant | NM_015509.4(NECAP1):c.51C>T (p.Val17=) | Developmental and epileptic encephalopathy, 21 [RCV002943392] | likely benign | 12 | 8082339 | 8082339 | Human | 1 | name |
| 401905920 | CV2810161 | single nucleotide variant | NM_015509.4(NECAP1):c.84C>T (p.Asn28=) | not provided [RCV003396199] | likely benign | 12 | 8082372 | 8082372 | Human | | name |
| 402512712 | CV3178408 | deletion | NM_015509.4(NECAP1):c.780-12_780-10del | Developmental and epileptic encephalopathy, 21 [RCV003879025]|NECAP1-related disorder [RCV003921387] | likely benign | 12 | 8096028 | 8096030 | Human | 1 | name , trait , alternate_id |
| 15131402 | CV713761 | single nucleotide variant | NM_015509.4(NECAP1):c.69G>A (p.Pro23=) | Developmental and epileptic encephalopathy, 21 [RCV000964595]|NECAP1-related disorder [RCV003943132]|not provided [RCV002066384] | benign|likely benign | 12 | 8082357 | 8082357 | Human | 1 | name , trait , alternate_id |
| 127303368 | CV1122915 | single nucleotide variant | NM_015509.4(NECAP1):c.180C>T (p.Leu60=) | Developmental and epileptic encephalopathy, 21 [RCV001454720] | likely benign | 12 | 8090020 | 8090020 | Human | 1 | name |
| 151811711 | CV1349409 | single nucleotide variant | NM_015509.4(NECAP1):c.195A>G (p.Ser65=) | Developmental and epileptic encephalopathy, 21 [RCV001974839] | uncertain significance | 12 | 8090035 | 8090035 | Human | 1 | name |
| 151797450 | CV1377054 | single nucleotide variant | NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly) | Developmental and epileptic encephalopathy, 21 [RCV001917394] | uncertain significance | 12 | 8082299 | 8082299 | Human | 1 | name |
| 152048251 | CV1519886 | single nucleotide variant | NM_015509.4(NECAP1):c.126T>C (p.Asp42=) | Developmental and epileptic encephalopathy, 21 [RCV002145339] | likely benign | 12 | 8089966 | 8089966 | Human | 1 | name |
| 156173850 | CV2053484 | single nucleotide variant | NM_015509.4(NECAP1):c.228A>G (p.Gln76=) | Developmental and epileptic encephalopathy, 21 [RCV002802031] | likely benign | 12 | 8090226 | 8090226 | Human | 1 | name |
| 156216586 | CV2111003 | single nucleotide variant | NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys) | Developmental and epileptic encephalopathy, 21 [RCV002932284] | uncertain significance | 12 | 8082314 | 8082314 | Human | 1 | name |
| 156112225 | CV2136242 | single nucleotide variant | NM_015509.4(NECAP1):c.117C>T (p.Asp39=) | Developmental and epileptic encephalopathy, 21 [RCV003002643] | likely benign | 12 | 8089957 | 8089957 | Human | 1 | name |
| 405250253 | CV2993156 | single nucleotide variant | NM_015509.4(NECAP1):c.210T>C (p.Ala70=) | Developmental and epileptic encephalopathy, 21 [RCV003747314] | likely benign | 12 | 8090208 | 8090208 | Human | 1 | name |
| 13624369 | CV527350 | single nucleotide variant | NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys) | Developmental and epileptic encephalopathy, 21 [RCV000652190] | uncertain significance | 12 | 8082298 | 8082298 | Human | 1 | name |
| 13624420 | CV527373 | single nucleotide variant | NM_015509.4(NECAP1):c.252G>A (p.Thr84=) | Developmental and epileptic encephalopathy, 21 [RCV000652193] | likely benign | 12 | 8090250 | 8090250 | Human | 1 | name |
| 15175278 | CV702520 | single nucleotide variant | NM_015509.4(NECAP1):c.114A>G (p.Leu38=) | Developmental and epileptic encephalopathy, 21 [RCV000950539]|not provided [RCV003392707] | likely benign | 12 | 8089954 | 8089954 | Human | 1 | name |
| 126773394 | CV1010617 | single nucleotide variant | NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile) | Developmental and epileptic encephalopathy, 21 [RCV001324305] | uncertain significance | 12 | 8082371 | 8082371 | Human | 1 | name |
| 127277400 | CV1079668 | single nucleotide variant | NM_015509.4(NECAP1):c.714G>A (p.Thr238=) | Developmental and epileptic encephalopathy, 21 [RCV001407773] | likely benign | 12 | 8095638 | 8095638 | Human | 1 | name |
| 127263237 | CV1101429 | single nucleotide variant | NM_015509.4(NECAP1):c.315C>T (p.Phe105=) | Developmental and epileptic encephalopathy, 21 [RCV001439237] | likely benign | 12 | 8091782 | 8091782 | Human | 1 | name |
| 127279465 | CV1101430 | single nucleotide variant | NM_015509.4(NECAP1):c.648G>T (p.Pro216=) | Developmental and epileptic encephalopathy, 21 [RCV001445810] | likely benign | 12 | 8093027 | 8093027 | Human | 1 | name |
| 127265714 | CV1101431 | single nucleotide variant | NM_015509.4(NECAP1):c.804G>A (p.Gln268=) | Developmental and epileptic encephalopathy, 21 [RCV001429173] | likely benign | 12 | 8096066 | 8096066 | Human | 1 | name |
| 127307386 | CV1122916 | single nucleotide variant | NM_015509.4(NECAP1):c.516T>C (p.Gly172=) | Developmental and epileptic encephalopathy, 21 [RCV001455774]|not provided [RCV004704572] | likely benign | 12 | 8092895 | 8092895 | Human | 1 | name |
| 127312740 | CV1143772 | single nucleotide variant | NM_015509.4(NECAP1):c.594C>T (p.Pro198=) | Developmental and epileptic encephalopathy, 21 [RCV001502001] | likely benign | 12 | 8092973 | 8092973 | Human | 1 | name |
| 151799869 | CV1403933 | single nucleotide variant | NM_015509.4(NECAP1):c.77C>T (p.Ala26Val) | Developmental and epileptic encephalopathy, 21 [RCV001973808] | uncertain significance | 12 | 8082365 | 8082365 | Human | 1 | name |
| 151869850 | CV1436522 | single nucleotide variant | NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu) | Developmental and epileptic encephalopathy, 21 [RCV002018795] | uncertain significance | 12 | 8082356 | 8082356 | Human | 1 | name |
| 152171242 | CV1562211 | single nucleotide variant | NM_015509.4(NECAP1):c.570G>A (p.Pro190=) | Developmental and epileptic encephalopathy, 21 [RCV002183433] | likely benign | 12 | 8092949 | 8092949 | Human | 1 | name |
| 152113750 | CV1623975 | single nucleotide variant | NM_015509.4(NECAP1):c.372G>A (p.Gln124=) | Developmental and epileptic encephalopathy, 21 [RCV002134824] | likely benign | 12 | 8091839 | 8091839 | Human | 1 | name |
| 152094007 | CV1634359 | single nucleotide variant | NM_015509.4(NECAP1):c.723A>G (p.Ala241=) | Developmental and epileptic encephalopathy, 21 [RCV002213114] | likely benign | 12 | 8095647 | 8095647 | Human | 1 | name |
| 152068737 | CV1662364 | single nucleotide variant | NM_015509.4(NECAP1):c.648G>A (p.Pro216=) | Developmental and epileptic encephalopathy, 21 [RCV002111158]|NECAP1-related disorder [RCV004756358] | likely benign | 12 | 8093027 | 8093027 | Human | 1 | name , trait , alternate_id |
| 156409142 | CV1877606 | single nucleotide variant | NM_015509.4(NECAP1):c.573A>G (p.Pro191=) | Developmental and epileptic encephalopathy, 21 [RCV003071545] | likely benign | 12 | 8092952 | 8092952 | Human | 1 | name |
| 156437494 | CV1947500 | single nucleotide variant | NM_015509.4(NECAP1):c.579C>A (p.Gly193=) | Developmental and epileptic encephalopathy, 21 [RCV003107032] | likely benign | 12 | 8092958 | 8092958 | Human | 1 | name |
| 156364286 | CV2003452 | single nucleotide variant | NM_015509.4(NECAP1):c.531G>A (p.Arg177=) | Developmental and epileptic encephalopathy, 21 [RCV002676453] | likely benign | 12 | 8092910 | 8092910 | Human | 1 | name |
| 156114132 | CV2065589 | single nucleotide variant | NM_015509.4(NECAP1):c.765C>T (p.Phe255=) | Developmental and epileptic encephalopathy, 21 [RCV002871012] | uncertain significance | 12 | 8095689 | 8095689 | Human | 1 | name |
| 156123621 | CV2089889 | single nucleotide variant | NM_015509.4(NECAP1):c.555C>T (p.Ser185=) | Developmental and epileptic encephalopathy, 21 [RCV002889661] | likely benign | 12 | 8092934 | 8092934 | Human | 1 | name |
| 156266975 | CV2171667 | single nucleotide variant | NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg) | Developmental and epileptic encephalopathy, 21 [RCV003026854] | uncertain significance | 12 | 8082376 | 8082376 | Human | 1 | name |
| 401905922 | CV2810162 | single nucleotide variant | NM_015509.4(NECAP1):c.456C>G (p.Gly152=) | not provided [RCV003396200] | likely benign | 12 | 8092748 | 8092748 | Human | | name |
| 401905923 | CV2810163 | single nucleotide variant | NM_015509.4(NECAP1):c.717A>G (p.Thr239=) | not provided [RCV003396201] | likely benign | 12 | 8095641 | 8095641 | Human | | name |
| 405248490 | CV2939530 | single nucleotide variant | NM_015509.4(NECAP1):c.393G>A (p.Lys131=) | Developmental and epileptic encephalopathy, 21 [RCV003746779] | likely benign | 12 | 8092685 | 8092685 | Human | 1 | name |
| 405248304 | CV2944509 | single nucleotide variant | NM_015509.4(NECAP1):c.351C>T (p.Phe117=) | Developmental and epileptic encephalopathy, 21 [RCV003746734] | likely benign | 12 | 8091818 | 8091818 | Human | 1 | name |
| 405247144 | CV3017779 | single nucleotide variant | NM_015509.4(NECAP1):c.681C>A (p.Ile227=) | Developmental and epileptic encephalopathy, 21 [RCV003746109] | likely benign | 12 | 8095605 | 8095605 | Human | 1 | name |
| 405185980 | CV3152829 | single nucleotide variant | NM_015509.4(NECAP1):c.810C>T (p.Ser270=) | Developmental and epileptic encephalopathy, 21 [RCV003842820] | likely benign | 12 | 8096072 | 8096072 | Human | 1 | name |
| 597891180 | CV3805083 | single nucleotide variant | NM_015509.4(NECAP1):c.420T>G (p.Ser140=) | Developmental and epileptic encephalopathy, 21 [RCV005151345] | likely benign | 12 | 8092712 | 8092712 | Human | 1 | name |
| 598129359 | CV3888655 | single nucleotide variant | NM_015509.4(NECAP1):c.792C>T (p.Asn264=) | not provided [RCV005244829] | likely benign | 12 | 8096054 | 8096054 | Human | | name |
| 13822539 | CV567066 | single nucleotide variant | NM_015509.4(NECAP1):c.56T>C (p.Val19Ala) | Developmental and epileptic encephalopathy, 21 [RCV000697456] | uncertain significance | 12 | 8082344 | 8082344 | Human | 1 | name |
| 15175417 | CV702521 | single nucleotide variant | NM_015509.4(NECAP1):c.417A>G (p.Glu139=) | Developmental and epileptic encephalopathy, 21 [RCV001472795] | likely benign | 12 | 8092709 | 8092709 | Human | 1 | name |
| 15201070 | CV725292 | single nucleotide variant | NM_015509.4(NECAP1):c.489C>T (p.Ile163=) | Developmental and epileptic encephalopathy, 21 [RCV001416589]|not provided [RCV003392681] | likely benign | 12 | 8092781 | 8092781 | Human | 1 | name |
| 15120506 | CV769318 | single nucleotide variant | NM_015509.4(NECAP1):c.546G>A (p.Gly182=) | Developmental and epileptic encephalopathy, 21 [RCV001499313] | likely benign | 12 | 8092925 | 8092925 | Human | 1 | name |
| 15102567 | CV769319 | single nucleotide variant | NM_015509.4(NECAP1):c.570G>T (p.Pro190=) | Developmental and epileptic encephalopathy, 21 [RCV000937015] | likely benign | 12 | 8092949 | 8092949 | Human | 1 | name |
| 38597723 | CV964400 | single nucleotide variant | NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) | Developmental and epileptic encephalopathy, 21 [RCV001253048] | uncertain significance | 12 | 8082376 | 8082376 | Human | 1 | name |
| 126749982 | CV1010618 | single nucleotide variant | NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) | Developmental and epileptic encephalopathy, 21 [RCV001326641] | uncertain significance | 12 | 8089976 | 8089976 | Human | 1 | name |
| 126754047 | CV1010619 | single nucleotide variant | NM_015509.4(NECAP1):c.244G>A (p.Val82Met) | Developmental and epileptic encephalopathy, 21 [RCV001327420] | uncertain significance | 12 | 8090242 | 8090242 | Human | 1 | name |
| 151848444 | CV1353121 | single nucleotide variant | NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr) | Developmental and epileptic encephalopathy, 21 [RCV001922445] | uncertain significance | 12 | 8090001 | 8090001 | Human | 1 | name |
| 8689266 | CV137078 | single nucleotide variant | NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) | Developmental and epileptic encephalopathy, 21 [RCV000119841] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters | 12 | 8089982 | 8089982 | Human | 1 | name |
| 151880954 | CV1437234 | single nucleotide variant | NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser) | Developmental and epileptic encephalopathy, 21 [RCV001999566] | uncertain significance | 12 | 8090215 | 8090215 | Human | 1 | name |
| 151758122 | CV1443612 | single nucleotide variant | NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn) | Developmental and epileptic encephalopathy, 21 [RCV001872932] | uncertain significance | 12 | 8089971 | 8089971 | Human | 1 | name |
| 151760568 | CV1448589 | single nucleotide variant | NM_015509.4(NECAP1):c.137G>A (p.Arg46His) | Developmental and epileptic encephalopathy, 21 [RCV001949089] | uncertain significance | 12 | 8089977 | 8089977 | Human | 1 | name |
| 151881160 | CV1475626 | single nucleotide variant | NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe) | Developmental and epileptic encephalopathy, 21 [RCV001961692] | uncertain significance | 12 | 8090018 | 8090018 | Human | 1 | name |
| 151852000 | CV1476065 | single nucleotide variant | NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr) | Developmental and epileptic encephalopathy, 21 [RCV001996084] | uncertain significance | 12 | 8089940 | 8089940 | Human | 1 | name |
| 156285697 | CV1929719 | single nucleotide variant | NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser) | Developmental and epileptic encephalopathy, 21 [RCV002628605] | uncertain significance | 12 | 8090239 | 8090239 | Human | 1 | name |
| 156356353 | CV2188884 | single nucleotide variant | NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp) | Developmental and epileptic encephalopathy, 21 [RCV003048715] | uncertain significance | 12 | 8090234 | 8090234 | Human | 1 | name |
| 329356891 | CV2460604 | single nucleotide variant | NM_015509.4(NECAP1):c.205T>C (p.Phe69Leu) | Inborn genetic diseases [RCV003203484] | uncertain significance | 12 | 8090203 | 8090203 | Human | 1 | name |
| 404985771 | CV2852343 | single nucleotide variant | NM_015509.4(NECAP1):c.291G>T (p.Gln97His) | NECAP1-related disorder [RCV004731542]|not specified [RCV003489585] | uncertain significance | 12 | 8090289 | 8090289 | Human | 1 | name , trait , alternate_id |
| 408395112 | CV3522402 | single nucleotide variant | NM_015509.4(NECAP1):c.182A>T (p.Glu61Val) | not provided [RCV004765477] | uncertain significance | 12 | 8090022 | 8090022 | Human | | name |
| 13471795 | CV462754 | single nucleotide variant | NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys) | Developmental and epileptic encephalopathy, 21 [RCV000547050] | uncertain significance | 12 | 8090266 | 8090266 | Human | 1 | name |
| 13495027 | CV463223 | single nucleotide variant | NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) | Developmental and epileptic encephalopathy, 21 [RCV000536844]|Inborn genetic diseases [RCV002526707]|not provided [RCV003392401] | uncertain significance | 12 | 8090249 | 8090249 | Human | 2 | name |
| 13624368 | CV527889 | single nucleotide variant | NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala) | Developmental and epileptic encephalopathy, 21 [RCV000652189] | uncertain significance | 12 | 8089974 | 8089974 | Human | 1 | name |
| 26907748 | CV840299 | single nucleotide variant | NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) | Developmental and epileptic encephalopathy, 21 [RCV001052354] | uncertain significance | 12 | 8090212 | 8090212 | Human | 1 | name |
| 126765267 | CV1010620 | single nucleotide variant | NM_015509.4(NECAP1):c.305G>A (p.Arg102His) | Developmental and epileptic encephalopathy, 21 [RCV001319978]|Inborn genetic diseases [RCV002546072] | uncertain significance | 12 | 8091772 | 8091772 | Human | 2 | name |
| 126772401 | CV1010621 | single nucleotide variant | NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu) | Developmental and epileptic encephalopathy, 21 [RCV001323734]|Inborn genetic diseases [RCV004035108] | uncertain significance | 12 | 8095682 | 8095682 | Human | 2 | name |
| 126749032 | CV1031134 | single nucleotide variant | NM_015509.4(NECAP1):c.797C>T (p.Ala266Val) | Developmental and epileptic encephalopathy, 21 [RCV001351977] | uncertain significance | 12 | 8096059 | 8096059 | Human | 1 | name |
| 126772619 | CV1031135 | single nucleotide variant | NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser) | Developmental and epileptic encephalopathy, 21 [RCV001345720] | uncertain significance | 12 | 8096074 | 8096074 | Human | 1 | name |
| 126909995 | CV1048126 | single nucleotide variant | NM_015509.4(NECAP1):c.734T>C (p.Val245Ala) | Developmental and epileptic encephalopathy, 21 [RCV001368719] | uncertain significance | 12 | 8095658 | 8095658 | Human | 1 | name |
| 126915686 | CV1048127 | single nucleotide variant | NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser) | Developmental and epileptic encephalopathy, 21 [RCV001360133] | uncertain significance | 12 | 8095670 | 8095670 | Human | 1 | name |
| 151890423 | CV1350531 | single nucleotide variant | NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly) | Developmental and epileptic encephalopathy, 21 [RCV002038813] | uncertain significance | 12 | 8093053 | 8093053 | Human | 1 | name |
| 151810817 | CV1376567 | single nucleotide variant | NM_015509.4(NECAP1):c.437G>A (p.Arg146His) | Developmental and epileptic encephalopathy, 21 [RCV001899928]|Inborn genetic diseases [RCV003355578] | uncertain significance | 12 | 8092729 | 8092729 | Human | 2 | name |
| 151832076 | CV1377987 | single nucleotide variant | NM_015509.4(NECAP1):c.376C>T (p.His126Tyr) | Developmental and epileptic encephalopathy, 21 [RCV002014403]|Inborn genetic diseases [RCV002545568] | uncertain significance | 12 | 8091843 | 8091843 | Human | 2 | name |
| 151742571 | CV1389279 | single nucleotide variant | NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser) | Developmental and epileptic encephalopathy, 21 [RCV002042378] | uncertain significance | 12 | 8092974 | 8092974 | Human | 1 | name |
| 151820532 | CV1398243 | single nucleotide variant | NM_015509.4(NECAP1):c.818T>C (p.Val273Ala) | Developmental and epileptic encephalopathy, 21 [RCV002013331] | uncertain significance | 12 | 8096080 | 8096080 | Human | 1 | name |
| 151788572 | CV1403339 | single nucleotide variant | NM_015509.4(NECAP1):c.713C>T (p.Thr238Met) | Developmental and epileptic encephalopathy, 21 [RCV001916589] | uncertain significance | 12 | 8095637 | 8095637 | Human | 1 | name |
| 151772049 | CV1404679 | single nucleotide variant | NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile) | Developmental and epileptic encephalopathy, 21 [RCV002045339] | uncertain significance | 12 | 8092960 | 8092960 | Human | 1 | name |
| 151770909 | CV1410845 | single nucleotide variant | NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe) | Developmental and epileptic encephalopathy, 21 [RCV001971175] | uncertain significance | 12 | 8093032 | 8093032 | Human | 1 | name |
| 151721733 | CV1421826 | single nucleotide variant | NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr) | Developmental and epileptic encephalopathy, 21 [RCV001909839] | uncertain significance | 12 | 8093032 | 8093032 | Human | 1 | name |
| 151816010 | CV1427135 | single nucleotide variant | NM_015509.4(NECAP1):c.518C>T (p.Ala173Val) | Developmental and epileptic encephalopathy, 21 [RCV001878744]|Inborn genetic diseases [RCV002551638] | uncertain significance | 12 | 8092897 | 8092897 | Human | 2 | name |
| 151755268 | CV1449218 | single nucleotide variant | NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu) | Developmental and epileptic encephalopathy, 21 [RCV001986691]|Inborn genetic diseases [RCV005374996] | uncertain significance | 12 | 8093026 | 8093026 | Human | 2 | name |
| 151778406 | CV1449766 | single nucleotide variant | NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys) | Developmental and epileptic encephalopathy, 21 [RCV002009506] | uncertain significance | 12 | 8096044 | 8096044 | Human | 1 | name |
| 151738160 | CV1455019 | single nucleotide variant | NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg) | Developmental and epileptic encephalopathy, 21 [RCV002005539] | uncertain significance | 12 | 8092714 | 8092714 | Human | 1 | name |
| 151759972 | CV1459351 | single nucleotide variant | NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn) | Developmental and epileptic encephalopathy, 21 [RCV002044158] | uncertain significance | 12 | 8092722 | 8092722 | Human | 1 | name |
| 151793718 | CV1482638 | single nucleotide variant | NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys) | Developmental and epileptic encephalopathy, 21 [RCV002047347] | uncertain significance | 12 | 8092918 | 8092918 | Human | 1 | name |
| 151804995 | CV1485749 | single nucleotide variant | NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp) | Developmental and epileptic encephalopathy, 21 [RCV002048326] | uncertain significance | 12 | 8096052 | 8096052 | Human | 1 | name |
| 151727019 | CV1488381 | single nucleotide variant | NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly) | Developmental and epileptic encephalopathy, 21 [RCV001966720] | uncertain significance | 12 | 8092741 | 8092741 | Human | 1 | name |
| 151870965 | CV1488665 | single nucleotide variant | NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala) | Developmental and epileptic encephalopathy, 21 [RCV002035660] | uncertain significance | 12 | 8091798 | 8091798 | Human | 1 | name |
| 151846769 | CV1495323 | single nucleotide variant | NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser) | Developmental and epileptic encephalopathy, 21 [RCV001978384] | uncertain significance | 12 | 8093019 | 8093019 | Human | 1 | name |
| 151709700 | CV1501932 | single nucleotide variant | NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr) | Developmental and epileptic encephalopathy, 21 [RCV001907731] | uncertain significance | 12 | 8095696 | 8095696 | Human | 1 | name |
| 151818989 | CV1513900 | single nucleotide variant | NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr) | Developmental and epileptic encephalopathy, 21 [RCV001933957] | uncertain significance | 12 | 8092941 | 8092941 | Human | 1 | name |
| 151889119 | CV1516140 | single nucleotide variant | NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn) | Developmental and epileptic encephalopathy, 21 [RCV002038537] | uncertain significance | 12 | 8095703 | 8095703 | Human | 1 | name |
| 151870126 | CV1516869 | single nucleotide variant | NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser) | Developmental and epileptic encephalopathy, 21 [RCV001981187] | uncertain significance | 12 | 8091813 | 8091813 | Human | 1 | name |
| 155672017 | CV1773967 | single nucleotide variant | NM_015509.4(NECAP1):c.515G>T (p.Gly172Val) | Developmental and epileptic encephalopathy, 21 [RCV002297538] | uncertain significance | 12 | 8092894 | 8092894 | Human | 1 | name |
| 156405792 | CV1884620 | single nucleotide variant | NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser) | Developmental and epileptic encephalopathy, 21 [RCV003070134] | uncertain significance | 12 | 8093043 | 8093043 | Human | 1 | name |
| 156412868 | CV1886988 | single nucleotide variant | NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln) | Developmental and epileptic encephalopathy, 21 [RCV003073066] | uncertain significance | 12 | 8091805 | 8091805 | Human | 1 | name |
| 156202743 | CV1925782 | single nucleotide variant | NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp) | Developmental and epileptic encephalopathy, 21 [RCV002643693] | uncertain significance | 12 | 8091804 | 8091804 | Human | 1 | name |
| 156385423 | CV1998008 | single nucleotide variant | NM_015509.4(NECAP1):c.709G>A (p.Val237Ile) | Developmental and epileptic encephalopathy, 21 [RCV002653957] | uncertain significance | 12 | 8095633 | 8095633 | Human | 1 | name |
| 155985147 | CV2030375 | single nucleotide variant | NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr) | Developmental and epileptic encephalopathy, 21 [RCV002755506] | uncertain significance | 12 | 8092771 | 8092771 | Human | 1 | name |
| 155955601 | CV2033386 | single nucleotide variant | NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser) | Developmental and epileptic encephalopathy, 21 [RCV002730911]|Inborn genetic diseases [RCV002730912] | uncertain significance | 12 | 8095630 | 8095630 | Human | 2 | name |
| 156174190 | CV2051841 | single nucleotide variant | NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly) | Developmental and epileptic encephalopathy, 21 [RCV002828087] | uncertain significance | 12 | 8092690 | 8092690 | Human | 1 | name |
| 155927006 | CV2099638 | single nucleotide variant | NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro) | Developmental and epileptic encephalopathy, 21 [RCV002903624] | uncertain significance | 12 | 8092965 | 8092965 | Human | 1 | name |
| 156190067 | CV2148714 | single nucleotide variant | NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala) | Developmental and epileptic encephalopathy, 21 [RCV003005972] | uncertain significance | 12 | 8092921 | 8092921 | Human | 1 | name |
| 156371484 | CV2174585 | single nucleotide variant | NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser) | Developmental and epileptic encephalopathy, 21 [RCV003049735] | uncertain significance | 12 | 8095624 | 8095624 | Human | 1 | name |
| 156226125 | CV2176435 | single nucleotide variant | NM_015509.4(NECAP1):c.427A>G (p.Met143Val) | Developmental and epileptic encephalopathy, 21 [RCV003059132] | uncertain significance | 12 | 8092719 | 8092719 | Human | 1 | name |
| 156402065 | CV2191418 | single nucleotide variant | NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp) | Developmental and epileptic encephalopathy, 21 [RCV003052403] | uncertain significance | 12 | 8092894 | 8092894 | Human | 1 | name |
| 401740860 | CV2702673 | single nucleotide variant | NM_015509.4(NECAP1):c.751T>G (p.Leu251Val) | Inborn genetic diseases [RCV003292468] | uncertain significance | 12 | 8095675 | 8095675 | Human | 1 | name |
| 401906153 | CV2802512 | single nucleotide variant | NM_015509.4(NECAP1):c.565C>A (p.Pro189Thr) | NECAP1-related disorder [RCV003421096] | uncertain significance | 12 | 8092944 | 8092944 | Human | | name , trait , alternate_id |
| 405869560 | CV2832053 | microsatellite | NM_015509.4(NECAP1):c.38_39del (p.Val13fs) | not provided [RCV004573064] | pathogenic | 12 | 8082320 | 8082321 | Human | | name |
| 405038508 | CV3140916 | single nucleotide variant | NM_015509.4(NECAP1):c.822G>C (p.Gln274His) | Developmental and epileptic encephalopathy, 21 [RCV003831209] | uncertain significance | 12 | 8096084 | 8096084 | Human | 1 | name |
| 597721339 | CV3555783 | single nucleotide variant | NM_015509.4(NECAP1):c.605C>T (p.Ser202Phe) | Inborn genetic diseases [RCV004961567] | uncertain significance | 12 | 8092984 | 8092984 | Human | 1 | name |
| 598231416 | CV3990605 | single nucleotide variant | NM_015509.4(NECAP1):c.434C>G (p.Ala145Gly) | Inborn genetic diseases [RCV005381354] | uncertain significance | 12 | 8092726 | 8092726 | Human | 1 | name |
| 13492461 | CV462491 | single nucleotide variant | NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) | Developmental and epileptic encephalopathy, 21 [RCV000557465]|Inborn genetic diseases [RCV002526708] | uncertain significance | 12 | 8092960 | 8092960 | Human | 2 | name |
| 13493577 | CV462492 | single nucleotide variant | NM_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 significance | 12 | 8093049 | 8093049 | Human | 1 | name , trait , alternate_id |
| 13478869 | CV463233 | single nucleotide variant | NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser) | Developmental and epileptic encephalopathy, 21 [RCV000550257] | uncertain significance | 12 | 8096053 | 8096053 | Human | 1 | name |
| 13624370 | CV527379 | single nucleotide variant | NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) | Developmental and epileptic encephalopathy, 21 [RCV000652191] | uncertain significance | 12 | 8095639 | 8095639 | Human | 1 | name |
| 14706995 | CV641395 | single nucleotide variant | NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) | Developmental and epileptic encephalopathy, 21 [RCV000808615] | uncertain significance | 12 | 8092734 | 8092734 | Human | 1 | name |
| 14738571 | CV641396 | single nucleotide variant | NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) | Developmental and epileptic encephalopathy, 21 [RCV000804559] | uncertain significance | 12 | 8092948 | 8092948 | Human | 1 | name |
| 14731001 | CV641397 | single nucleotide variant | NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) | Developmental and epileptic encephalopathy, 21 [RCV000817637] | uncertain significance | 12 | 8095651 | 8095651 | Human | 1 | name |
| 15126282 | CV738881 | single nucleotide variant | NM_015509.4(NECAP1):c.709G>C (p.Val237Leu) | Developmental and epileptic encephalopathy, 21 [RCV000896908]|NECAP1-related disorder [RCV003950484] | likely benign | 12 | 8095633 | 8095633 | Human | 1 | name , trait , alternate_id |
| 26905207 | CV840300 | single nucleotide variant | NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) | Developmental and epileptic encephalopathy, 21 [RCV001051205] | uncertain significance | 12 | 8096056 | 8096056 | Human | 1 | name |
| 38475439 | CV936273 | single nucleotide variant | NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) | Developmental and epileptic encephalopathy, 21 [RCV001204276]|not provided [RCV003129732] | uncertain significance | 12 | 8091819 | 8091819 | Human | 1 | name |
| 38470915 | CV936274 | single nucleotide variant | NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) | Developmental and epileptic encephalopathy, 21 [RCV001202655] | uncertain significance | 12 | 8093008 | 8093008 | Human | 1 | name |
| 38496129 | CV956950 | single nucleotide variant | NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) | Developmental and epileptic encephalopathy, 21 [RCV001242361] | uncertain significance | 12 | 8092728 | 8092728 | Human | 1 | name |
| 38490853 | CV956951 | single nucleotide variant | NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu) | Developmental and epileptic encephalopathy, 21 [RCV001239086] | uncertain significance | 12 | 8092729 | 8092729 | Human | 1 | name |
| 38500173 | CV956952 | single nucleotide variant | NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) | Developmental and epileptic encephalopathy, 21 [RCV001245637] | uncertain significance | 12 | 8092779 | 8092779 | Human | 1 | name |
| 38464392 | CV956953 | single nucleotide variant | NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) | Developmental and epileptic encephalopathy, 21 [RCV001247386] | uncertain significance | 12 | 8095677 | 8095677 | Human | 1 | name |
| 126766657 | CV995380 | single nucleotide variant | NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu) | Developmental and epileptic encephalopathy, 21 [RCV001301972]|not provided [RCV001509421] | uncertain significance | 12 | 8092948 | 8092948 | Human | 1 | name |
| 243058481 | CV2405049 | microsatellite | NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter) | Developmental and epileptic encephalopathy, 21 [RCV003140599] | likely pathogenic | 12 | 8082319 | 8082320 | Human | | name |
| 155988139 | CV2056353 | deletion | NM_015509.4(NECAP1):c.258_273del (p.Asp87fs) | Developmental and epileptic encephalopathy, 21 [RCV002819076] | pathogenic | 12 | 8090254 | 8090269 | Human | 1 | name |