| 405267296 | CV3205524 | single nucleotide variant | NM_005618.4(DLL1):c.-9C>A | DLL1-related disorder [RCV003947374] | likely benign | 6 | 170290148 | 170290148 | Human | | name , trait , alternate_id |
| 150503054 | CV1257701 | single nucleotide variant | NM_005618.4(DLL1):c.*39A>C | not provided [RCV001677389] | benign | 6 | 170282835 | 170282835 | Human | | name |
| 405854223 | CV3392914 | single nucleotide variant | NM_005618.4(DLL1):c.-17G>A | not specified [RCV004527071] | uncertain significance | 6 | 170290156 | 170290156 | Human | | name |
| 127243943 | CV1053751 | single nucleotide variant | NM_005618.4(DLL1):c.54+5G>C | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001375947] | uncertain significance | 6 | 170290081 | 170290081 | Human | 1 | name |
| 150459037 | CV1202860 | single nucleotide variant | NM_005618.4(DLL1):c.-234C>G | not provided [RCV001586513] | likely benign | 6 | 170290373 | 170290373 | Human | | name |
| 150508419 | CV1244827 | single nucleotide variant | NM_005618.4(DLL1):c.*184C>T | not provided [RCV001659076] | likely benign | 6 | 170282690 | 170282690 | Human | | name |
| 150446406 | CV1261359 | single nucleotide variant | NM_005618.4(DLL1):c.*194C>T | not provided [RCV001680033] | benign | 6 | 170282680 | 170282680 | Human | | name |
| 150463307 | CV1273134 | single nucleotide variant | NM_005618.4(DLL1):c.-158G>A | not provided [RCV001693891] | benign | 6 | 170290297 | 170290297 | Human | | name |
| 151353487 | CV1326628 | single nucleotide variant | NM_005618.4(DLL1):c.55-6G>C | not provided [RCV001816453] | likely benign | 6 | 170289814 | 170289814 | Human | | name |
| 152025748 | CV1586522 | single nucleotide variant | NM_005618.4(DLL1):c.55-9C>T | not provided [RCV002184923] | likely benign | 6 | 170289817 | 170289817 | Human | | name |
| 156446751 | CV1948104 | single nucleotide variant | NM_005618.4(DLL1):c.55-7C>T | not provided [RCV003118267] | likely benign | 6 | 170289815 | 170289815 | Human | | name |
| 156375027 | CV2190934 | single nucleotide variant | NM_005618.4(DLL1):c.54+9G>T | not provided [RCV003050029] | likely benign | 6 | 170290077 | 170290077 | Human | | name |
| 405234827 | CV3040705 | single nucleotide variant | NM_005618.4(DLL1):c.55-4G>A | not provided [RCV003712148] | likely benign | 6 | 170289812 | 170289812 | Human | | name |
| 408385394 | CV3527004 | single nucleotide variant | NM_005618.4(DLL1):c.54+5G>A | not provided [RCV004772317] | uncertain significance | 6 | 170290081 | 170290081 | Human | | name |
| 597938654 | CV3760149 | single nucleotide variant | NM_005618.4(DLL1):c.55-8C>T | not provided [RCV005077073] | likely benign | 6 | 170289816 | 170289816 | Human | | name |
| 15140112 | CV744270 | deletion | NM_005618.4(DLL1):c.55-7del | not provided [RCV000899260] | benign | 6 | 170289815 | 170289815 | Human | | name |
| 15175261 | CV775089 | single nucleotide variant | NM_005618.4(DLL1):c.54+7G>A | not provided [RCV000928633] | likely benign | 6 | 170290079 | 170290079 | Human | | name |
| 15173963 | CV789165 | single nucleotide variant | NM_005618.4(DLL1):c.54+1G>A | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984544] | pathogenic | 6 | 170290085 | 170290085 | Human | 1 | name |
| 150433769 | CV1204180 | single nucleotide variant | NM_005618.4(DLL1):c.55-44C>T | not provided [RCV001581929] | likely benign | 6 | 170289852 | 170289852 | Human | | name |
| 152059155 | CV1597475 | single nucleotide variant | NM_005618.4(DLL1):c.54+11A>T | not provided [RCV002128136] | benign | 6 | 170290075 | 170290075 | Human | | name |
| 156374455 | CV1903035 | single nucleotide variant | NM_005618.4(DLL1):c.862+6C>A | not provided [RCV003092743] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 170285563 | 170285563 | Human | | name |
| 156155529 | CV1987714 | single nucleotide variant | NM_005618.4(DLL1):c.54+17G>C | not provided [RCV002642219] | likely benign | 6 | 170290069 | 170290069 | Human | | name |
| 156213442 | CV2018985 | single nucleotide variant | NM_005618.4(DLL1):c.412+9A>T | not provided [RCV002700716] | likely benign | 6 | 170288720 | 170288720 | Human | | name |
| 156135147 | CV2109495 | single nucleotide variant | NM_005618.4(DLL1):c.55-11C>T | not provided [RCV002914696] | likely benign | 6 | 170289819 | 170289819 | Human | | name |
| 243051523 | CV2415890 | single nucleotide variant | NM_005618.4(DLL1):c.413-3T>G | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003148508] | uncertain significance | 6 | 170288499 | 170288499 | Human | 1 | name |
| 401829145 | CV2417731 | single nucleotide variant | NM_005618.4(DLL1):c.351+1G>T | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003326677] | pathogenic | 6 | 170289511 | 170289511 | Human | 1 | name |
| 405131026 | CV3115065 | single nucleotide variant | NM_005618.4(DLL1):c.670+8T>G | not provided [RCV003815910] | likely benign | 6 | 170288231 | 170288231 | Human | | name |
| 405186992 | CV3156473 | single nucleotide variant | NM_005618.4(DLL1):c.351+7G>A | not provided [RCV003859351] | likely benign | 6 | 170289505 | 170289505 | Human | | name |
| 596922118 | CV3529687 | single nucleotide variant | NM_005618.4(DLL1):c.351+1G>A | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004776545] | uncertain significance | 6 | 170289511 | 170289511 | Human | 1 | name |
| 596921056 | CV3534672 | single nucleotide variant | NM_005618.4(DLL1):c.731+3A>G | not provided [RCV004784229] | uncertain significance | 6 | 170286235 | 170286235 | Human | | name |
| 596921786 | CV3535412 | single nucleotide variant | NM_005618.4(DLL1):c.862+3A>T | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004784967] | uncertain significance | 6 | 170285566 | 170285566 | Human | 1 | name |
| 597847846 | CV3762092 | single nucleotide variant | NM_005618.4(DLL1):c.55-19C>G | not provided [RCV005087510] | likely benign | 6 | 170289827 | 170289827 | Human | | name |
| 597854037 | CV3762414 | single nucleotide variant | NM_005618.4(DLL1):c.352-4C>A | not specified [RCV005088330] | uncertain significance | 6 | 170288793 | 170288793 | Human | | name |
| 597917185 | CV3811124 | single nucleotide variant | NM_005618.4(DLL1):c.54+13G>C | not provided [RCV005155159] | likely benign | 6 | 170290073 | 170290073 | Human | | name |
| 15191965 | CV777606 | single nucleotide variant | NM_005618.4(DLL1):c.731+9G>C | not provided [RCV000954930] | benign | 6 | 170286229 | 170286229 | Human | | name |
| 150453028 | CV1231777 | single nucleotide variant | NM_005618.4(DLL1):c.671-44C>G | not provided [RCV001648084] | benign | 6 | 170286342 | 170286342 | Human | 1 | name |
| 150453028 | CV1231777 | single nucleotide variant | NM_005618.4(DLL1):c.671-44C>G | not provided [RCV001648084] | benign | 6 | 170286342 | 170286343 | Human | 1 | name |
| 150431472 | CV1243707 | single nucleotide variant | NM_005618.4(DLL1):c.670+51G>A | not provided [RCV001663327] | benign | 6 | 170288188 | 170288188 | Human | | name |
| 150462244 | CV1253345 | single nucleotide variant | NM_005618.4(DLL1):c.732-32A>G | not provided [RCV001669674] | benign | 6 | 170285731 | 170285731 | Human | | name |
| 150452465 | CV1254969 | single nucleotide variant | NM_005618.4(DLL1):c.670+22G>A | not provided [RCV001668028] | benign | 6 | 170288217 | 170288217 | Human | | name |
| 150470865 | CV1258681 | single nucleotide variant | NM_005618.4(DLL1):c.55-128C>G | not provided [RCV001684227] | benign | 6 | 170289936 | 170289936 | Human | 1 | name |
| 150539118 | CV1297150 | single nucleotide variant | NM_005618.4(DLL1):c.2048+2T>C | not provided [RCV001765248] | uncertain significance | 6 | 170283229 | 170283229 | Human | | name |
| 151233687 | CV1317970 | single nucleotide variant | NM_005618.4(DLL1):c.1250-1G>A | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001787704] | pathogenic | 6 | 170284030 | 170284030 | Human | 1 | name |
| 151351271 | CV1323804 | single nucleotide variant | NM_005618.4(DLL1):c.670+30A>G | not provided [RCV001810350] | likely benign | 6 | 170288209 | 170288209 | Human | | name |
| 151870800 | CV1453942 | single nucleotide variant | NM_005618.4(DLL1):c.2048+4C>T | not provided [RCV001939772] | uncertain significance | 6 | 170283227 | 170283227 | Human | | name |
| 152050603 | CV1533201 | single nucleotide variant | NM_005618.4(DLL1):c.412+15C>G | not provided [RCV002166828] | likely benign | 6 | 170288714 | 170288714 | Human | | name |
| 152125442 | CV1565585 | single nucleotide variant | NM_005618.4(DLL1):c.1033-6G>A | not provided [RCV002136251] | likely benign | 6 | 170285141 | 170285141 | Human | | name |
| 152055664 | CV1610169 | deletion | NM_005618.4(DLL1):c.2167-3del | not provided [RCV002167397] | benign|likely benign | 6 | 170282882 | 170282882 | Human | | name |
| 156435967 | CV1937262 | single nucleotide variant | NM_005618.4(DLL1):c.2167-8C>T | not provided [RCV003105123] | likely benign | 6 | 170282887 | 170282887 | Human | | name |
| 156408331 | CV1957803 | single nucleotide variant | NM_005618.4(DLL1):c.863-13C>T | not provided [RCV002586486] | likely benign | 6 | 170285436 | 170285436 | Human | | name |
| 156130495 | CV1962679 | single nucleotide variant | NM_005618.4(DLL1):c.731+17T>C | not provided [RCV002572211] | likely benign | 6 | 170286221 | 170286221 | Human | | name |
| 156205869 | CV1990419 | deletion | NM_005618.4(DLL1):c.351+14del | not provided [RCV002625895] | likely benign | 6 | 170289498 | 170289498 | Human | | name |
| 156297837 | CV2005546 | single nucleotide variant | NM_005618.4(DLL1):c.670+18C>T | not provided [RCV002671027] | uncertain significance | 6 | 170288221 | 170288221 | Human | | name |
| 156315143 | CV2017935 | single nucleotide variant | NM_005618.4(DLL1):c.2167-7C>T | not provided [RCV002671858] | likely benign | 6 | 170282886 | 170282886 | Human | | name |
| 156251814 | CV2082631 | single nucleotide variant | NM_005618.4(DLL1):c.862+15C>G | not provided [RCV002876969] | likely benign | 6 | 170285554 | 170285554 | Human | | name |
| 156218522 | CV2107181 | single nucleotide variant | NM_005618.4(DLL1):c.413-16C>G | not provided [RCV002918464] | likely benign | 6 | 170288512 | 170288512 | Human | | name |
| 402519867 | CV2856978 | single nucleotide variant | NM_005618.4(DLL1):c.413-10C>T | not provided [RCV003575637] | likely benign | 6 | 170288506 | 170288506 | Human | | name |
| 405157734 | CV2890834 | single nucleotide variant | NM_005618.4(DLL1):c.1249+8G>T | not provided [RCV003562087] | likely benign | 6 | 170284911 | 170284911 | Human | | name |
| 405222469 | CV2891039 | deletion | NM_005618.4(DLL1):c.1249+1del | not provided [RCV003554137] | pathogenic | 6 | 170284918 | 170284918 | Human | | name |
| 405082115 | CV3137490 | single nucleotide variant | NM_005618.4(DLL1):c.1250-4C>T | not provided [RCV003834199] | likely benign | 6 | 170284033 | 170284033 | Human | | name |
| 405051132 | CV3150965 | single nucleotide variant | NM_005618.4(DLL1):c.1033-7C>T | not provided [RCV003849569] | likely benign | 6 | 170285142 | 170285142 | Human | | name |
| 405132432 | CV3163805 | deletion | NM_005618.4(DLL1):c.412+18del | not provided [RCV003854793] | likely benign | 6 | 170288711 | 170288711 | Human | | name |
| 405263227 | CV3189501 | single nucleotide variant | NM_005618.4(DLL1):c.1249+9G>A | DLL1-related disorder [RCV003896735] | likely benign | 6 | 170284910 | 170284910 | Human | | name , trait , alternate_id |
| 597905965 | CV3738665 | single nucleotide variant | NM_005618.4(DLL1):c.2048+3G>A | not provided [RCV005072899] | uncertain significance | 6 | 170283228 | 170283228 | Human | | name |
| 597866974 | CV3739100 | deletion | NM_005618.4(DLL1):c.731+14del | not provided [RCV005068167] | likely benign | 6 | 170286224 | 170286224 | Human | | name |
| 597971359 | CV3750704 | single nucleotide variant | NM_005618.4(DLL1):c.1032+8G>A | not provided [RCV005084448] | likely benign | 6 | 170285246 | 170285246 | Human | | name |
| 597966793 | CV3751666 | single nucleotide variant | NM_005618.4(DLL1):c.351+17C>T | not provided [RCV005083036] | likely benign | 6 | 170289495 | 170289495 | Human | | name |
| 597961056 | CV3756291 | duplication | NM_005618.4(DLL1):c.2167-3dup | not provided [RCV005081608] | benign | 6 | 170282881 | 170282882 | Human | | name |
| 597942763 | CV3786303 | single nucleotide variant | NM_005618.4(DLL1):c.732-12C>G | not provided [RCV005133994] | likely benign | 6 | 170285711 | 170285711 | Human | | name |
| 597943677 | CV3812389 | single nucleotide variant | NM_005618.4(DLL1):c.351+15T>G | not provided [RCV005159599] | likely benign | 6 | 170289497 | 170289497 | Human | | name |
| 597846324 | CV3827953 | single nucleotide variant | NM_005618.4(DLL1):c.671-12C>T | not provided [RCV005173028] | likely benign | 6 | 170286310 | 170286310 | Human | | name |
| 597959049 | CV3848589 | single nucleotide variant | NM_005618.4(DLL1):c.2166+6T>C | not provided [RCV005192290] | uncertain significance | 6 | 170282982 | 170282982 | Human | | name |
| 597936768 | CV3852257 | single nucleotide variant | NM_005618.4(DLL1):c.2167-4C>T | not provided [RCV005186854] | likely benign | 6 | 170282883 | 170282883 | Human | | name |
| 597934799 | CV3858846 | single nucleotide variant | NM_005618.4(DLL1):c.731+10C>T | not provided [RCV005207316] | likely benign | 6 | 170286228 | 170286228 | Human | | name |
| 15178048 | CV744112 | single nucleotide variant | NM_005618.4(DLL1):c.1250-9G>C | not provided [RCV000906785] | benign | 6 | 170284038 | 170284038 | Human | | name |
| 150411015 | CV1190469 | single nucleotide variant | NM_005618.4(DLL1):c.731+206A>C | not provided [RCV001566349] | likely benign | 6 | 170286032 | 170286032 | Human | | name |
| 150502426 | CV1223211 | single nucleotide variant | NM_005618.4(DLL1):c.2167-42T>C | not provided [RCV001621145] | benign | 6 | 170282921 | 170282921 | Human | | name |
| 150507538 | CV1226617 | single nucleotide variant | NM_005618.4(DLL1):c.2048+11C>T | not provided [RCV001635985] | benign | 6 | 170283220 | 170283220 | Human | | name |
| 150500566 | CV1256123 | single nucleotide variant | NM_005618.4(DLL1):c.351+248G>A | not provided [RCV001676747] | benign | 6 | 170289264 | 170289264 | Human | | name |
| 150453131 | CV1260477 | single nucleotide variant | NM_005618.4(DLL1):c.2167-53G>C | not provided [RCV001680968] | benign | 6 | 170282932 | 170282932 | Human | | name |
| 150438119 | CV1264779 | single nucleotide variant | NM_005618.4(DLL1):c.2048+26G>C | not provided [RCV001678772] | benign | 6 | 170283205 | 170283205 | Human | | name |
| 152167915 | CV1547825 | single nucleotide variant | NM_005618.4(DLL1):c.2166+19C>T | not provided [RCV002160983] | benign | 6 | 170282969 | 170282969 | Human | | name |
| 152150999 | CV1549964 | single nucleotide variant | NM_005618.4(DLL1):c.1250-11C>T | not provided [RCV002201964] | likely benign | 6 | 170284040 | 170284040 | Human | | name |
| 156206608 | CV1913228 | single nucleotide variant | NM_005618.4(DLL1):c.1250-10T>G | not provided [RCV002595907] | uncertain significance | 6 | 170284039 | 170284039 | Human | | name |
| 156295616 | CV1958733 | single nucleotide variant | NM_005618.4(DLL1):c.1032+19G>A | not provided [RCV002577998] | likely benign | 6 | 170285235 | 170285235 | Human | | name |
| 156320081 | CV1968352 | single nucleotide variant | NM_005618.4(DLL1):c.2166+20G>A | not provided [RCV002630285] | likely benign | 6 | 170282968 | 170282968 | Human | | name |
| 156398083 | CV1985424 | single nucleotide variant | NM_005618.4(DLL1):c.2048+12G>A | not provided [RCV002635705] | likely benign | 6 | 170283219 | 170283219 | Human | | name |
| 155942647 | CV2006578 | single nucleotide variant | NM_005618.4(DLL1):c.2048+17G>A | not provided [RCV002685562] | likely benign | 6 | 170283214 | 170283214 | Human | | name |
| 402511958 | CV2859011 | single nucleotide variant | NM_005618.4(DLL1):c.2049-17C>A | not provided [RCV003547098] | likely benign | 6 | 170283122 | 170283122 | Human | | name |
| 405160618 | CV3125052 | single nucleotide variant | NM_005618.4(DLL1):c.2049-16T>C | not provided [RCV003818323] | likely benign | 6 | 170283121 | 170283121 | Human | | name |
| 405186090 | CV3160123 | single nucleotide variant | NM_005618.4(DLL1):c.1249+11A>C | not provided [RCV003859178] | likely benign | 6 | 170284908 | 170284908 | Human | | name |
| 597863703 | CV3745373 | single nucleotide variant | NM_005618.4(DLL1):c.2049-12T>C | not provided [RCV005067729] | likely benign | 6 | 170283117 | 170283117 | Human | | name |
| 597850642 | CV3746927 | single nucleotide variant | NM_005618.4(DLL1):c.2048+16C>T | not provided [RCV005060555] | likely benign | 6 | 170283215 | 170283215 | Human | | name |
| 597844605 | CV3752637 | single nucleotide variant | NM_005618.4(DLL1):c.1249+14T>G | not provided [RCV005087043] | likely benign | 6 | 170284905 | 170284905 | Human | | name |
| 597924162 | CV3808607 | single nucleotide variant | NM_005618.4(DLL1):c.2048+15C>T | not provided [RCV005156121] | likely benign | 6 | 170283216 | 170283216 | Human | | name |
| 597837951 | CV3828890 | single nucleotide variant | NM_005618.4(DLL1):c.1250-16T>C | not provided [RCV005171583] | likely benign | 6 | 170284045 | 170284045 | Human | | name |
| 150335506 | CV1171532 | single nucleotide variant | NM_005618.4(DLL1):c.1249+175G>A | not provided [RCV001540597] | benign | 6 | 170284744 | 170284744 | Human | | name |
| 150424608 | CV1183785 | single nucleotide variant | NM_005618.4(DLL1):c.1250-230C>T | not provided [RCV001556888] | likely benign | 6 | 170284259 | 170284259 | Human | | name |
| 150444047 | CV1232960 | single nucleotide variant | NM_005618.4(DLL1):c.1249+277A>G | not provided [RCV001645632] | benign | 6 | 170284642 | 170284642 | Human | | name |
| 150500878 | CV1224876 | microsatellite | NM_005618.4(DLL1):c.351+223GAG[2] | not provided [RCV001620708] | benign | 6 | 170289281 | 170289283 | Human | | name |
| 153305211 | CV1687608 | deletion | NM_005618.4(DLL1):c.54+6_54+13del | DLL1-related disorder [RCV003971216]|not provided [RCV002263429] | likely benign|conflicting interpretations of pathogenicity | 6 | 170290073 | 170290080 | Human | 1 | name , trait , alternate_id |
| 329353444 | CV2477008 | deletion | NM_005618.4(DLL1):c.327_351+36del | not provided [RCV003223240] | likely pathogenic | 6 | 170289476 | 170289536 | Human | | name |
| 15159386 | CV749992 | single nucleotide variant | NM_005618.4(DLL1):c.15C>T (p.Cys5=) | not provided [RCV000925270] | likely benign | 6 | 170290125 | 170290125 | Human | | name |
| 155997719 | CV1986994 | single nucleotide variant | NM_005618.4(DLL1):c.42C>T (p.Ala14=) | not provided [RCV002618304] | likely benign | 6 | 170290098 | 170290098 | Human | | name |
| 405243147 | CV3043068 | single nucleotide variant | NM_005618.4(DLL1):c.36C>G (p.Leu12=) | not provided [RCV003719578] | likely benign | 6 | 170290104 | 170290104 | Human | | name |
| 405075971 | CV3140765 | single nucleotide variant | NM_005618.4(DLL1):c.85C>T (p.Leu29=) | not provided [RCV003833728] | likely benign | 6 | 170289778 | 170289778 | Human | | name |
| 405245148 | CV3161722 | single nucleotide variant | NM_005618.4(DLL1):c.39G>A (p.Ser13=) | not provided [RCV003868435] | likely benign | 6 | 170290101 | 170290101 | Human | | name |
| 405291181 | CV3222144 | deletion | NM_005618.4(DLL1):c.1250-8_1250-1del | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003984963] | likely pathogenic | 6 | 170284030 | 170284037 | Human | 1 | name |
| 597935651 | CV3811374 | single nucleotide variant | NM_005618.4(DLL1):c.7A>G (p.Ser3Gly) | not provided [RCV005157889] | uncertain significance | 6 | 170290133 | 170290133 | Human | | name |
| 597864491 | CV3814228 | single nucleotide variant | NM_005618.4(DLL1):c.57C>T (p.Val19=) | not provided [RCV005147297] | likely benign | 6 | 170289806 | 170289806 | Human | | name |
| 598232917 | CV3886494 | single nucleotide variant | NM_005618.4(DLL1):c.1A>G (p.Met1Val) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005255938] | likely pathogenic | 6 | 170290139 | 170290139 | Human | 1 | name |
| 152104225 | CV1574747 | single nucleotide variant | NM_005618.4(DLL1):c.171G>A (p.Arg57=) | not provided [RCV002095931] | likely benign | 6 | 170289692 | 170289692 | Human | | name |
| 152075125 | CV1616621 | single nucleotide variant | NM_005618.4(DLL1):c.132C>T (p.Cys44=) | not provided [RCV002210491] | likely benign | 6 | 170289731 | 170289731 | Human | | name |
| 156414697 | CV1909071 | single nucleotide variant | NM_005618.4(DLL1):c.255C>G (p.Pro85=) | not provided [RCV002588756] | benign | 6 | 170289608 | 170289608 | Human | | name |
| 155923936 | CV2034503 | single nucleotide variant | NM_005618.4(DLL1):c.255C>T (p.Pro85=) | not provided [RCV002750843] | likely benign | 6 | 170289608 | 170289608 | Human | | name |
| 156222995 | CV2115220 | deletion | NM_005618.4(DLL1):c.1033-22_1033-8del | not provided [RCV002932531] | pathogenic | 6 | 170285143 | 170285157 | Human | | name |
| 156023344 | CV2145456 | single nucleotide variant | NM_005618.4(DLL1):c.213G>A (p.Val71=) | not provided [RCV003018337] | likely benign | 6 | 170289650 | 170289650 | Human | | name |
| 401921089 | CV2828154 | single nucleotide variant | NM_005618.4(DLL1):c.207C>T (p.Ala69=) | not provided [RCV003432184] | likely benign | 6 | 170289656 | 170289656 | Human | | name |
| 401921091 | CV2828155 | single nucleotide variant | NM_005618.4(DLL1):c.153A>C (p.Pro51=) | not provided [RCV003432185] | likely benign | 6 | 170289710 | 170289710 | Human | | name |
| 405203941 | CV3116880 | single nucleotide variant | NM_005618.4(DLL1):c.243C>T (p.Ser81=) | not provided [RCV003822364] | likely benign | 6 | 170289620 | 170289620 | Human | | name |
| 405260229 | CV3190280 | single nucleotide variant | NM_005618.4(DLL1):c.285C>T (p.Pro95=) | DLL1-related disorder [RCV003894679] | likely benign | 6 | 170289578 | 170289578 | Human | | name , trait , alternate_id |
| 597965528 | CV3797193 | single nucleotide variant | NM_005618.4(DLL1):c.174C>G (p.Thr58=) | not provided [RCV005140151] | likely benign | 6 | 170289689 | 170289689 | Human | | name |
| 15108262 | CV749991 | single nucleotide variant | NM_005618.4(DLL1):c.177C>T (p.Phe59=) | not provided [RCV000916109] | likely benign | 6 | 170289686 | 170289686 | Human | | name |
| 15182015 | CV765595 | single nucleotide variant | NM_005618.4(DLL1):c.105G>A (p.Lys35=) | not provided [RCV000930265] | likely benign | 6 | 170289758 | 170289758 | Human | | name |
| 150548338 | CV1316242 | microsatellite | NM_005618.4(DLL1):c.671-193_671-191del | not provided [RCV001786043] | likely benign | 6 | 170286489 | 170286491 | Human | | name |
| 151854973 | CV1344480 | single nucleotide variant | NM_005618.4(DLL1):c.90G>C (p.Gln30His) | Inborn genetic diseases [RCV004043369]|not provided [RCV001923281] | uncertain significance | 6 | 170289773 | 170289773 | Human | 1 | name |
| 152141624 | CV1628973 | single nucleotide variant | NM_005618.4(DLL1):c.588C>T (p.Asp196=) | not provided [RCV002100855] | likely benign | 6 | 170288321 | 170288321 | Human | | name |
| 152040546 | CV1644615 | single nucleotide variant | NM_005618.4(DLL1):c.726A>G (p.Glu242=) | not provided [RCV002165624] | likely benign | 6 | 170286243 | 170286243 | Human | | name |
| 152074307 | CV1652675 | single nucleotide variant | NM_005618.4(DLL1):c.936C>T (p.Tyr312=) | not provided [RCV002148496] | likely benign | 6 | 170285350 | 170285350 | Human | | name |
| 152091124 | CV1662131 | single nucleotide variant | NM_005618.4(DLL1):c.639C>T (p.Asn213=) | not provided [RCV002132057] | benign | 6 | 170288270 | 170288270 | Human | | name |
| 152154544 | CV1667927 | single nucleotide variant | NM_005618.4(DLL1):c.76G>T (p.Glu26Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002221820] | likely pathogenic | 6 | 170289787 | 170289787 | Human | 1 | name |
| 156395158 | CV1877069 | single nucleotide variant | NM_005618.4(DLL1):c.597C>T (p.Phe199=) | not provided [RCV003068510] | benign|likely benign | 6 | 170288312 | 170288312 | Human | | name |
| 156018183 | CV1909261 | single nucleotide variant | NM_005618.4(DLL1):c.453G>A (p.Arg151=) | not provided [RCV002619256] | likely benign | 6 | 170288456 | 170288456 | Human | | name |
| 156291009 | CV1929282 | single nucleotide variant | NM_005618.4(DLL1):c.351G>C (p.Pro117=) | DLL1-related disorder [RCV003420379]|not provided [RCV002647194] | uncertain significance | 6 | 170289512 | 170289512 | Human | 1 | name , trait , alternate_id |
| 155943300 | CV1935457 | single nucleotide variant | NM_005618.4(DLL1):c.38C>A (p.Ser13Ter) | not provided [RCV002511203] | pathogenic | 6 | 170290102 | 170290102 | Human | | name |
| 156444881 | CV1948929 | single nucleotide variant | NM_005618.4(DLL1):c.306C>G (p.Ser102=) | not provided [RCV003115811] | likely benign | 6 | 170289557 | 170289557 | Human | | name |
| 156412095 | CV1970149 | single nucleotide variant | NM_005618.4(DLL1):c.615G>C (p.Gly205=) | not provided [RCV002608442] | likely benign | 6 | 170288294 | 170288294 | Human | | name |
| 156272339 | CV2018445 | single nucleotide variant | NM_005618.4(DLL1):c.306C>A (p.Ser102=) | not provided [RCV002715025] | likely benign | 6 | 170289557 | 170289557 | Human | | name |
| 155937083 | CV2114257 | single nucleotide variant | NM_005618.4(DLL1):c.351G>T (p.Pro117=) | not provided [RCV002904214] | uncertain significance | 6 | 170289512 | 170289512 | Human | | name |
| 155935393 | CV2149788 | single nucleotide variant | NM_005618.4(DLL1):c.28G>A (p.Ala10Thr) | not provided [RCV003013901] | uncertain significance | 6 | 170290112 | 170290112 | Human | | name |
| 401727014 | CV2736222 | single nucleotide variant | NM_005618.4(DLL1):c.768G>A (p.Glu256=) | not provided [RCV003312670] | likely benign | 6 | 170285663 | 170285663 | Human | | name |
| 402488410 | CV2856466 | single nucleotide variant | NM_005618.4(DLL1):c.31G>T (p.Val11Leu) | not provided [RCV003572763] | uncertain significance | 6 | 170290109 | 170290109 | Human | | name |
| 405240315 | CV2882710 | single nucleotide variant | NM_005618.4(DLL1):c.825C>T (p.Asn275=) | not provided [RCV003557187] | likely benign | 6 | 170285606 | 170285606 | Human | | name |
| 405077708 | CV2945293 | single nucleotide variant | NM_005618.4(DLL1):c.642T>C (p.Pro214=) | not provided [RCV003664370] | likely benign | 6 | 170288267 | 170288267 | Human | | name |
| 405208864 | CV3065538 | single nucleotide variant | NM_005618.4(DLL1):c.765C>T (p.Asp255=) | not provided [RCV003731702] | likely benign | 6 | 170285666 | 170285666 | Human | | name |
| 405229880 | CV3073050 | single nucleotide variant | NM_005618.4(DLL1):c.918C>T (p.Asn306=) | not provided [RCV003734711] | likely benign | 6 | 170285368 | 170285368 | Human | | name |
| 405119616 | CV3116408 | single nucleotide variant | NM_005618.4(DLL1):c.468C>T (p.Gly156=) | not provided [RCV003814709] | likely benign | 6 | 170288441 | 170288441 | Human | | name |
| 405128492 | CV3132995 | single nucleotide variant | NM_005618.4(DLL1):c.975C>T (p.Cys325=) | not provided [RCV003838158] | likely benign | 6 | 170285311 | 170285311 | Human | | name |
| 405691378 | CV3227465 | single nucleotide variant | NM_005618.4(DLL1):c.73T>C (p.Phe25Leu) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003991810] | uncertain significance | 6 | 170289790 | 170289790 | Human | 1 | name |
| 405708143 | CV3240468 | single nucleotide variant | NM_005618.4(DLL1):c.52C>G (p.Gln18Glu) | Inborn genetic diseases [RCV004376224] | uncertain significance | 6 | 170290088 | 170290088 | Human | 1 | name |
| 405855172 | CV3395770 | single nucleotide variant | NM_005618.4(DLL1):c.76G>A (p.Glu26Lys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004556033] | likely pathogenic | 6 | 170289787 | 170289787 | Human | 1 | name |
| 407456723 | CV3415961 | single nucleotide variant | NM_005618.4(DLL1):c.552C>T (p.Tyr184=) | not provided [RCV004598838] | likely benign | 6 | 170288357 | 170288357 | Human | | name |
| 408391051 | CV3527863 | single nucleotide variant | NM_005618.4(DLL1):c.75C>G (p.Phe25Leu) | not provided [RCV004775132] | uncertain significance | 6 | 170289788 | 170289788 | Human | | name |
| 596944400 | CV3543130 | deletion | NM_005618.4(DLL1):c.181del (p.Arg61fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004799002] | pathogenic | 6 | 170289682 | 170289682 | Human | 1 | name |
| 597959566 | CV3752344 | single nucleotide variant | NM_005618.4(DLL1):c.438C>T (p.Arg146=) | not provided [RCV005081294] | likely benign | 6 | 170288471 | 170288471 | Human | | name |
| 597959694 | CV3797621 | single nucleotide variant | NM_005618.4(DLL1):c.45G>C (p.Leu15Phe) | not provided [RCV005138308] | uncertain significance | 6 | 170290095 | 170290095 | Human | | name |
| 597889456 | CV3804840 | single nucleotide variant | NM_005618.4(DLL1):c.67G>A (p.Gly23Arg) | not provided [RCV005151102] | uncertain significance | 6 | 170289796 | 170289796 | Human | | name |
| 597857779 | CV3822293 | single nucleotide variant | NM_005618.4(DLL1):c.867G>C (p.Leu289=) | not provided [RCV005174591] | likely benign | 6 | 170285419 | 170285419 | Human | | name |
| 597904172 | CV3856225 | single nucleotide variant | NM_005618.4(DLL1):c.750G>A (p.Gln250=) | not provided [RCV005202453] | likely benign | 6 | 170285681 | 170285681 | Human | | name |
| 15176046 | CV710345 | single nucleotide variant | NM_005618.4(DLL1):c.921G>A (p.Thr307=) | not provided [RCV000973094] | likely benign | 6 | 170285365 | 170285365 | Human | | name |
| 15154727 | CV721893 | single nucleotide variant | NM_005618.4(DLL1):c.813C>T (p.Pro271=) | not provided [RCV000880275] | benign|likely benign | 6 | 170285618 | 170285618 | Human | | name |
| 15113914 | CV721894 | single nucleotide variant | NM_005618.4(DLL1):c.573C>T (p.Phe191=) | not provided [RCV000894760] | likely benign | 6 | 170288336 | 170288336 | Human | | name |
| 15148949 | CV735548 | single nucleotide variant | NM_005618.4(DLL1):c.990C>T (p.Asp330=) | not provided [RCV000900829] | likely benign | 6 | 170285296 | 170285296 | Human | | name |
| 15194702 | CV749988 | single nucleotide variant | NM_005618.4(DLL1):c.978G>A (p.Glu326=) | not provided [RCV000911199] | likely benign | 6 | 170285308 | 170285308 | Human | | name |
| 15164935 | CV749989 | single nucleotide variant | NM_005618.4(DLL1):c.507G>A (p.Thr169=) | DLL1-related disorder [RCV003978063]|not provided [RCV000926502] | likely benign | 6 | 170288402 | 170288402 | Human | 1 | name , trait , alternate_id |
| 15126326 | CV749990 | single nucleotide variant | NM_005618.4(DLL1):c.372T>C (p.Ile124=) | not provided [RCV000919304] | likely benign | 6 | 170288769 | 170288769 | Human | | name |
| 15131513 | CV782497 | single nucleotide variant | NM_005618.4(DLL1):c.357C>T (p.Thr119=) | not provided [RCV000981225] | likely benign | 6 | 170288784 | 170288784 | Human | | name |
| 40815868 | CV970494 | deletion | NM_005618.4(DLL1):c.152del (p.Pro51fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001261968] | pathogenic | 6 | 170289711 | 170289711 | Human | 1 | name |
| 126743029 | CV1016693 | single nucleotide variant | NM_005618.4(DLL1):c.134G>A (p.Cys45Tyr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001330100] | uncertain significance | 6 | 170289729 | 170289729 | Human | 1 | name |
| 127230288 | CV1087050 | duplication | NM_005618.4(DLL1):c.845dup (p.Leu283fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002282543]|See cases [RCV001420223]|not provided [RCV003236897] | pathogenic|uncertain significance | 6 | 170285585 | 170285586 | Human | 1 | name |
| 150455641 | CV1268963 | single nucleotide variant | NM_005618.4(DLL1):c.1422G>A (p.Thr474=) | not provided [RCV001692787] | benign | 6 | 170283857 | 170283857 | Human | | name |
| 150529364 | CV1288921 | single nucleotide variant | NM_005618.4(DLL1):c.1221C>T (p.Asp407=) | not provided [RCV001727389] | likely benign | 6 | 170284947 | 170284947 | Human | | name |
| 151353486 | CV1326627 | single nucleotide variant | NM_005618.4(DLL1):c.1077C>T (p.Tyr359=) | not provided [RCV001816452] | likely benign | 6 | 170285091 | 170285091 | Human | | name |
| 151728479 | CV1410012 | single nucleotide variant | NM_005618.4(DLL1):c.292G>A (p.Gly98Arg) | not provided [RCV001910625] | uncertain significance | 6 | 170289571 | 170289571 | Human | | name |
| 151768400 | CV1410470 | single nucleotide variant | NM_005618.4(DLL1):c.2019G>A (p.Glu673=) | not provided [RCV001988008] | likely benign | 6 | 170283260 | 170283260 | Human | | name |
| 152134151 | CV1576340 | single nucleotide variant | NM_005618.4(DLL1):c.1740C>T (p.Ala580=) | not provided [RCV002119471] | benign | 6 | 170283539 | 170283539 | Human | | name |
| 152153521 | CV1577921 | single nucleotide variant | NM_005618.4(DLL1):c.152C>T (p.Pro51Leu) | not provided [RCV002122088] | benign | 6 | 170289711 | 170289711 | Human | | name |
| 152119406 | CV1589238 | single nucleotide variant | NM_005618.4(DLL1):c.1155C>T (p.Pro385=) | not provided [RCV002216574] | likely benign | 6 | 170285013 | 170285013 | Human | | name |
| 152082153 | CV1589526 | single nucleotide variant | NM_005618.4(DLL1):c.1647C>T (p.Cys549=) | not provided [RCV002112899] | likely benign | 6 | 170283632 | 170283632 | Human | | name |
| 152137841 | CV1591904 | single nucleotide variant | NM_005618.4(DLL1):c.1704C>T (p.Cys568=) | not provided [RCV002100357] | likely benign | 6 | 170283575 | 170283575 | Human | | name |
| 152148093 | CV1623833 | single nucleotide variant | NM_005618.4(DLL1):c.1299C>T (p.Ala433=) | not provided [RCV002157743] | benign | 6 | 170283980 | 170283980 | Human | | name |
| 152067401 | CV1647176 | single nucleotide variant | NM_005618.4(DLL1):c.2151C>T (p.Cys717=) | not provided [RCV002129156] | likely benign | 6 | 170283003 | 170283003 | Human | | name |
| 152146238 | CV1649503 | single nucleotide variant | NM_005618.4(DLL1):c.1602G>A (p.Glu534=) | not provided [RCV002121083] | likely benign | 6 | 170283677 | 170283677 | Human | | name |
| 152054664 | CV1665474 | single nucleotide variant | NM_005618.4(DLL1):c.1410G>A (p.Pro470=) | not provided [RCV002089560] | likely benign | 6 | 170283869 | 170283869 | Human | | name |
| 152155600 | CV1668385 | single nucleotide variant | NM_005618.4(DLL1):c.168C>A (p.Cys56Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002222286] | pathogenic | 6 | 170289695 | 170289695 | Human | 1 | name |
| 152999802 | CV1683362 | single nucleotide variant | NM_005618.4(DLL1):c.1626A>C (p.Pro542=) | See cases [RCV002252546] | uncertain significance | 6 | 170283653 | 170283653 | Human | | name |
| 153305209 | CV1687606 | single nucleotide variant | NM_005618.4(DLL1):c.1308G>A (p.Ser436=) | not provided [RCV002263427] | likely benign | 6 | 170283971 | 170283971 | Human | | name |
| 153305210 | CV1687607 | single nucleotide variant | NM_005618.4(DLL1):c.1158T>C (p.Asp386=) | not provided [RCV002263428] | likely benign | 6 | 170285010 | 170285010 | Human | | name |
| 155748596 | CV1772224 | single nucleotide variant | NM_005618.4(DLL1):c.154C>G (p.Pro52Ala) | not provided [RCV002303822] | uncertain significance | 6 | 170289709 | 170289709 | Human | | name |
| 156413137 | CV1887686 | single nucleotide variant | NM_005618.4(DLL1):c.288C>G (p.Asp96Glu) | not provided [RCV003073172] | uncertain significance | 6 | 170289575 | 170289575 | Human | | name |
| 156285335 | CV1897083 | single nucleotide variant | NM_005618.4(DLL1):c.283C>T (p.Pro95Ser) | DLL1-related disorder [RCV003410091]|Inborn genetic diseases [RCV003087265]|not provided [RCV003087266] | uncertain significance | 6 | 170289580 | 170289580 | Human | 2 | name , trait , alternate_id |
| 156379639 | CV1903400 | single nucleotide variant | NM_005618.4(DLL1):c.1821C>T (p.Ile607=) | DLL1-related disorder [RCV003926709]|not provided [RCV003093168] | benign|likely benign | 6 | 170283458 | 170283458 | Human | 1 | name , trait , alternate_id |
| 156417192 | CV1915762 | single nucleotide variant | NM_005618.4(DLL1):c.1428G>A (p.Arg476=) | not provided [RCV002610588] | likely benign | 6 | 170283851 | 170283851 | Human | | name |
| 156376253 | CV1917650 | single nucleotide variant | NM_005618.4(DLL1):c.1956C>T (p.Thr652=) | not provided [RCV002603606] | likely benign | 6 | 170283323 | 170283323 | Human | | name |
| 156418706 | CV1918652 | single nucleotide variant | NM_005618.4(DLL1):c.1038C>T (p.Leu346=) | not provided [RCV002611910] | likely benign | 6 | 170285130 | 170285130 | Human | | name |
| 156027336 | CV1918923 | single nucleotide variant | NM_005618.4(DLL1):c.1641C>T (p.Ala547=) | DLL1-related disorder [RCV003973703]|not provided [RCV002637006] | benign|likely benign | 6 | 170283638 | 170283638 | Human | 1 | name , trait , alternate_id |
| 156440786 | CV1940507 | single nucleotide variant | NM_005618.4(DLL1):c.1629C>T (p.Phe543=) | not provided [RCV003110826] | likely benign | 6 | 170283650 | 170283650 | Human | | name |
| 156437759 | CV1947774 | single nucleotide variant | NM_005618.4(DLL1):c.143G>A (p.Gly48Asp) | not provided [RCV003107301] | uncertain significance | 6 | 170289720 | 170289720 | Human | | name |
| 156410198 | CV1962148 | single nucleotide variant | NM_005618.4(DLL1):c.1914G>A (p.Ala638=) | not provided [RCV002587076] | likely benign | 6 | 170283365 | 170283365 | Human | | name |
| 156072744 | CV1968908 | single nucleotide variant | NM_005618.4(DLL1):c.1794T>C (p.Arg598=) | not provided [RCV002621293] | likely benign | 6 | 170283485 | 170283485 | Human | | name |
| 156125888 | CV1969414 | single nucleotide variant | NM_005618.4(DLL1):c.289G>A (p.Gly97Ser) | not provided [RCV002593307] | uncertain significance | 6 | 170289574 | 170289574 | Human | | name |
| 155995418 | CV1986858 | single nucleotide variant | NM_005618.4(DLL1):c.1038C>G (p.Leu346=) | not provided [RCV002618208] | likely benign | 6 | 170285130 | 170285130 | Human | | name |
| 155952660 | CV2014097 | single nucleotide variant | NM_005618.4(DLL1):c.1227C>T (p.Cys409=) | not provided [RCV002686104] | likely benign | 6 | 170284941 | 170284941 | Human | | name |
| 156068300 | CV2018435 | single nucleotide variant | NM_005618.4(DLL1):c.1974C>T (p.His658=) | not provided [RCV002705602] | likely benign | 6 | 170283305 | 170283305 | Human | | name |
| 156207666 | CV2021548 | deletion | NM_005618.4(DLL1):c.845del (p.Gly282fs) | Inborn genetic diseases [RCV002711640]|not provided [RCV002745457] | pathogenic | 6 | 170285586 | 170285586 | Human | 1 | name |
| 155905870 | CV2027579 | single nucleotide variant | NM_005618.4(DLL1):c.1008T>C (p.Pro336=) | not provided [RCV002726466] | likely benign | 6 | 170285278 | 170285278 | Human | | name |
| 155941994 | CV2034608 | single nucleotide variant | NM_005618.4(DLL1):c.1323C>T (p.Asp441=) | not provided [RCV002775255] | likely benign | 6 | 170283956 | 170283956 | Human | | name |
| 156027915 | CV2048988 | single nucleotide variant | NM_005618.4(DLL1):c.235T>G (p.Tyr79Asp) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002795909] | likely pathogenic | 6 | 170289628 | 170289628 | Human | 1 | name |
| 155957071 | CV2066323 | single nucleotide variant | NM_005618.4(DLL1):c.1701C>T (p.Val567=) | not provided [RCV002816574] | likely benign | 6 | 170283578 | 170283578 | Human | | name |
| 156115043 | CV2093133 | single nucleotide variant | NM_005618.4(DLL1):c.1620C>T (p.Gly540=) | not provided [RCV002913933] | benign | 6 | 170283659 | 170283659 | Human | | name |
| 155994346 | CV2095661 | single nucleotide variant | NM_005618.4(DLL1):c.1329C>T (p.Asn443=) | not provided [RCV002908311] | likely benign | 6 | 170283950 | 170283950 | Human | | name |
| 156011189 | CV2100078 | single nucleotide variant | NM_005618.4(DLL1):c.1116C>T (p.Asp372=) | not provided [RCV002909118] | likely benign | 6 | 170285052 | 170285052 | Human | | name |
| 156283856 | CV2104392 | single nucleotide variant | NM_005618.4(DLL1):c.1260T>C (p.Cys420=) | not provided [RCV002921879] | likely benign | 6 | 170284019 | 170284019 | Human | | name |
| 156229367 | CV2111817 | single nucleotide variant | NM_005618.4(DLL1):c.1383C>T (p.Gly461=) | not provided [RCV002918873] | likely benign | 6 | 170283896 | 170283896 | Human | | name |
| 156296436 | CV2119259 | single nucleotide variant | NM_005618.4(DLL1):c.1515C>T (p.Cys505=) | not provided [RCV002961939] | likely benign | 6 | 170283764 | 170283764 | Human | | name |
| 155962913 | CV2132020 | single nucleotide variant | NM_005618.4(DLL1):c.1533C>T (p.Tyr511=) | not provided [RCV002995245] | likely benign | 6 | 170283746 | 170283746 | Human | | name |
| 155988394 | CV2159914 | single nucleotide variant | NM_005618.4(DLL1):c.237C>A (p.Tyr79Ter) | not provided [RCV003034211] | pathogenic | 6 | 170289626 | 170289626 | Human | | name |
| 156291132 | CV2182963 | single nucleotide variant | NM_005618.4(DLL1):c.169C>T (p.Arg57Trp) | not provided [RCV003027682] | uncertain significance | 6 | 170289694 | 170289694 | Human | | name |
| 243052307 | CV2404355 | single nucleotide variant | NM_005618.4(DLL1):c.1032G>A (p.Thr344=) | not provided [RCV003129381] | uncertain significance | 6 | 170285254 | 170285254 | Human | | name |
| 243057495 | CV2412096 | single nucleotide variant | NM_005618.4(DLL1):c.218C>T (p.Pro73Leu) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146110] | uncertain significance | 6 | 170289645 | 170289645 | Human | 1 | name |
| 329951769 | CV2671430 | duplication | NM_005618.4(DLL1):c.838dup (p.Trp280fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003236640] | likely pathogenic | 6 | 170285592 | 170285593 | Human | 1 | name |
| 401870784 | CV2749415 | single nucleotide variant | NM_005618.4(DLL1):c.204G>C (p.Gln68His) | not provided [RCV003332543] | uncertain significance | 6 | 170289659 | 170289659 | Human | | name |
| 401858514 | CV2750613 | duplication | NM_005618.4(DLL1):c.577dup (p.Arg193fs) | not provided [RCV003334286] | pathogenic | 6 | 170288331 | 170288332 | Human | | name |
| 401919730 | CV2794937 | single nucleotide variant | NM_005618.4(DLL1):c.162C>A (p.Cys54Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003388683] | pathogenic | 6 | 170289701 | 170289701 | Human | 1 | name |
| 401908900 | CV2796931 | duplication | NM_005618.4(DLL1):c.453dup (p.His152fs) | DLL1-related disorder [RCV003397689] | likely pathogenic | 6 | 170288455 | 170288456 | Human | | name , trait , alternate_id |
| 401921083 | CV2828147 | single nucleotide variant | NM_005618.4(DLL1):c.2031C>T (p.Thr677=) | not provided [RCV003432180] | likely benign | 6 | 170283248 | 170283248 | Human | | name |
| 401921085 | CV2828149 | single nucleotide variant | NM_005618.4(DLL1):c.1950C>T (p.Asp650=) | not provided [RCV003432181] | likely benign | 6 | 170283329 | 170283329 | Human | | name |
| 401908682 | CV2828151 | single nucleotide variant | NM_005618.4(DLL1):c.1362C>T (p.Asn454=) | not provided [RCV003423485] | likely benign | 6 | 170283917 | 170283917 | Human | | name |
| 404998103 | CV2849981 | single nucleotide variant | NM_005618.4(DLL1):c.140G>A (p.Gly47Glu) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492990] | uncertain significance | 6 | 170289723 | 170289723 | Human | 1 | name |
| 402515953 | CV2856720 | single nucleotide variant | NM_005618.4(DLL1):c.1530C>T (p.Gly510=) | not provided [RCV003575489] | likely benign | 6 | 170283749 | 170283749 | Human | | name |
| 402495877 | CV2883840 | single nucleotide variant | NM_005618.4(DLL1):c.1929C>T (p.Leu643=) | DLL1-related disorder [RCV003984387]|not provided [RCV003573493] | likely benign | 6 | 170283350 | 170283350 | Human | 1 | name , trait , alternate_id |
| 405129354 | CV2893295 | single nucleotide variant | NM_005618.4(DLL1):c.1878C>T (p.Ser626=) | DLL1-related disorder [RCV003929255]|not provided [RCV003559791] | likely benign | 6 | 170283401 | 170283401 | Human | 1 | name , trait , alternate_id |
| 402468269 | CV2911522 | single nucleotide variant | NM_005618.4(DLL1):c.133T>C (p.Cys45Arg) | not provided [RCV003569865] | uncertain significance | 6 | 170289730 | 170289730 | Human | | name |
| 402483727 | CV2937640 | single nucleotide variant | NM_005618.4(DLL1):c.2001C>T (p.Pro667=) | not provided [RCV003659883] | likely benign | 6 | 170283278 | 170283278 | Human | | name |
| 405136065 | CV2957862 | single nucleotide variant | NM_005618.4(DLL1):c.1698G>A (p.Val566=) | not provided [RCV003672658] | likely benign | 6 | 170283581 | 170283581 | Human | | name |
| 402493951 | CV3004823 | single nucleotide variant | NM_005618.4(DLL1):c.1053C>T (p.Ser351=) | not provided [RCV003687812] | likely benign | 6 | 170285115 | 170285115 | Human | | name |
| 405063541 | CV3020665 | single nucleotide variant | NM_005618.4(DLL1):c.1590G>A (p.Val530=) | not provided [RCV003697864] | likely benign | 6 | 170283689 | 170283689 | Human | | name |
| 405202309 | CV3036264 | single nucleotide variant | NM_005618.4(DLL1):c.1641C>G (p.Ala547=) | not provided [RCV003707567] | likely benign | 6 | 170283638 | 170283638 | Human | | name |
| 405251192 | CV3049773 | single nucleotide variant | NM_005618.4(DLL1):c.1113G>A (p.Ala371=) | not provided [RCV003721833] | likely benign | 6 | 170285055 | 170285055 | Human | | name |
| 405254684 | CV3055298 | single nucleotide variant | NM_005618.4(DLL1):c.1353G>T (p.Pro451=) | not provided [RCV003722986] | likely benign | 6 | 170283926 | 170283926 | Human | | name |
| 405164926 | CV3062772 | single nucleotide variant | NM_005618.4(DLL1):c.2076G>T (p.Pro692=) | not provided [RCV003727242] | likely benign | 6 | 170283078 | 170283078 | Human | | name |
| 405228645 | CV3065717 | single nucleotide variant | NM_005618.4(DLL1):c.103A>C (p.Lys35Gln) | not provided [RCV003734410] | uncertain significance | 6 | 170289760 | 170289760 | Human | | name |
| 405225764 | CV3068452 | single nucleotide variant | NM_005618.4(DLL1):c.1584G>A (p.Ala528=) | not provided [RCV003734016] | likely benign | 6 | 170283695 | 170283695 | Human | | name |
| 405176588 | CV3119319 | single nucleotide variant | NM_005618.4(DLL1):c.1659C>T (p.Ile553=) | not provided [RCV003819604] | likely benign | 6 | 170283620 | 170283620 | Human | | name |
| 405184064 | CV3124133 | single nucleotide variant | NM_005618.4(DLL1):c.1353G>A (p.Pro451=) | DLL1-related disorder [RCV003893447]|not provided [RCV003820331] | likely benign | 6 | 170283926 | 170283926 | Human | 1 | name , trait , alternate_id |
| 405198315 | CV3132153 | single nucleotide variant | NM_005618.4(DLL1):c.2034G>A (p.Pro678=) | not provided [RCV003821746] | likely benign | 6 | 170283245 | 170283245 | Human | | name |
| 405218701 | CV3135744 | single nucleotide variant | NM_005618.4(DLL1):c.1389C>T (p.Asn463=) | not provided [RCV003824369] | likely benign | 6 | 170283890 | 170283890 | Human | | name |
| 405197516 | CV3168276 | single nucleotide variant | NM_005618.4(DLL1):c.1167C>T (p.Tyr389=) | not provided [RCV003860408] | likely benign | 6 | 170285001 | 170285001 | Human | | name |
| 405264876 | CV3190106 | single nucleotide variant | NM_005618.4(DLL1):c.2001C>G (p.Pro667=) | DLL1-related disorder [RCV003897145] | likely benign | 6 | 170283278 | 170283278 | Human | | name , trait , alternate_id |
| 405286627 | CV3192257 | single nucleotide variant | NM_005618.4(DLL1):c.1356C>T (p.Cys452=) | DLL1-related disorder [RCV003924157] | likely benign | 6 | 170283923 | 170283923 | Human | | name , trait , alternate_id |
| 405271320 | CV3202823 | single nucleotide variant | NM_005618.4(DLL1):c.1107C>T (p.Thr369=) | DLL1-related disorder [RCV003913887] | likely benign | 6 | 170285061 | 170285061 | Human | | name , trait , alternate_id |
| 405295137 | CV3211080 | single nucleotide variant | NM_005618.4(DLL1):c.1494G>A (p.Glu498=) | DLL1-related disorder [RCV003937077] | likely benign | 6 | 170283785 | 170283785 | Human | | name , trait , alternate_id |
| 407426430 | CV3411330 | single nucleotide variant | NM_005618.4(DLL1):c.217C>G (p.Pro73Ala) | not provided [RCV004590507] | uncertain significance | 6 | 170289646 | 170289646 | Human | | name |
| 407475118 | CV3430677 | single nucleotide variant | NM_005618.4(DLL1):c.110G>C (p.Gly37Ala) | Inborn genetic diseases [RCV004616608] | uncertain significance | 6 | 170289753 | 170289753 | Human | 1 | name |
| 596925104 | CV3541827 | deletion | NM_005618.4(DLL1):c.883del (p.His295fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004795539] | pathogenic | 6 | 170285403 | 170285403 | Human | 1 | name |
| 596945793 | CV3548068 | single nucleotide variant | NM_005618.4(DLL1):c.1062C>T (p.Cys354=) | not provided [RCV004809399] | likely benign | 6 | 170285106 | 170285106 | Human | | name |
| 597886289 | CV3741807 | single nucleotide variant | NM_005618.4(DLL1):c.1173C>T (p.Cys391=) | not provided [RCV005070526] | likely benign | 6 | 170284995 | 170284995 | Human | | name |
| 597969049 | CV3761321 | single nucleotide variant | NM_005618.4(DLL1):c.2007C>T (p.Gly669=) | not provided [RCV005083708] | likely benign | 6 | 170283272 | 170283272 | Human | | name |
| 597882691 | CV3763989 | single nucleotide variant | NM_005618.4(DLL1):c.1761G>A (p.Thr587=) | not provided [RCV005109390] | likely benign | 6 | 170283518 | 170283518 | Human | | name |
| 597940773 | CV3769004 | single nucleotide variant | NM_005618.4(DLL1):c.238G>C (p.Gly80Arg) | not provided [RCV005118499] | uncertain significance | 6 | 170289625 | 170289625 | Human | | name |
| 597922379 | CV3775689 | duplication | NM_005618.4(DLL1):c.702dup (p.Gly235fs) | not provided [RCV005115404] | pathogenic | 6 | 170286266 | 170286267 | Human | | name |
| 597942909 | CV3786332 | single nucleotide variant | NM_005618.4(DLL1):c.1317C>T (p.His439=) | not provided [RCV005134023] | likely benign | 6 | 170283962 | 170283962 | Human | | name |
| 597958293 | CV3800984 | single nucleotide variant | NM_005618.4(DLL1):c.1491C>T (p.His497=) | not provided [RCV005137864] | likely benign | 6 | 170283788 | 170283788 | Human | | name |
| 597972414 | CV3812960 | single nucleotide variant | NM_005618.4(DLL1):c.2163T>C (p.Thr721=) | not provided [RCV005167413] | likely benign | 6 | 170282991 | 170282991 | Human | | name |
| 597949484 | CV3818573 | single nucleotide variant | NM_005618.4(DLL1):c.1509T>C (p.Tyr503=) | not provided [RCV005160834] | likely benign | 6 | 170283770 | 170283770 | Human | | name |
| 597839832 | CV3824965 | single nucleotide variant | NM_005618.4(DLL1):c.1197C>T (p.Gly399=) | not provided [RCV005171829] | likely benign | 6 | 170284971 | 170284971 | Human | | name |
| 597963459 | CV3841536 | single nucleotide variant | NM_005618.4(DLL1):c.2154C>T (p.Val718=) | not provided [RCV005193640] | likely benign | 6 | 170283000 | 170283000 | Human | | name |
| 598125392 | CV3883974 | single nucleotide variant | NM_005618.4(DLL1):c.173C>T (p.Thr58Ile) | not provided [RCV005236329] | uncertain significance | 6 | 170289690 | 170289690 | Human | | name |
| 617151359 | CV4017829 | single nucleotide variant | NM_005618.4(DLL1):c.188G>A (p.Cys63Tyr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005417617] | uncertain significance | 6 | 170289675 | 170289675 | Human | 1 | name |
| 617152102 | CV4018295 | single nucleotide variant | NM_005618.4(DLL1):c.146C>T (p.Ala49Val) | not specified [RCV005418555] | uncertain significance | 6 | 170289717 | 170289717 | Human | | name |
| 15201357 | CV699458 | single nucleotide variant | NM_005618.4(DLL1):c.2133C>T (p.Ser711=) | not provided [RCV000957598] | benign|likely benign | 6 | 170283021 | 170283021 | Human | | name |
| 15191960 | CV699460 | single nucleotide variant | NM_005618.4(DLL1):c.1335C>T (p.Asp445=) | not provided [RCV000954929] | likely benign | 6 | 170283944 | 170283944 | Human | | name |
| 15104341 | CV699462 | single nucleotide variant | NM_005618.4(DLL1):c.1017C>T (p.Asn339=) | not provided [RCV000959665] | benign|likely benign | 6 | 170285269 | 170285269 | Human | | name |
| 15124638 | CV710343 | single nucleotide variant | NM_005618.4(DLL1):c.1518G>A (p.Glu506=) | not provided [RCV000963449] | benign|likely benign | 6 | 170283761 | 170283761 | Human | | name |
| 15176671 | CV721889 | single nucleotide variant | NM_005618.4(DLL1):c.2076G>A (p.Pro692=) | DLL1-related disorder [RCV003910449]|not provided [RCV000884635] | benign|likely benign | 6 | 170283078 | 170283078 | Human | 1 | name , trait , alternate_id |
| 15178016 | CV721890 | single nucleotide variant | NM_005618.4(DLL1):c.1968C>T (p.Asp656=) | not provided [RCV000884961] | likely benign | 6 | 170283311 | 170283311 | Human | | name |
| 15102957 | CV721891 | single nucleotide variant | NM_005618.4(DLL1):c.1563C>T (p.Pro521=) | not provided [RCV000892580] | benign|likely benign | 6 | 170283716 | 170283716 | Human | | name |
| 15107019 | CV721892 | single nucleotide variant | NM_005618.4(DLL1):c.1455C>T (p.Cys485=) | not provided [RCV000893394] | likely benign | 6 | 170283824 | 170283824 | Human | | name |
| 15183386 | CV735537 | single nucleotide variant | NM_005618.4(DLL1):c.2124C>T (p.Tyr708=) | not provided [RCV000908047] | likely benign | 6 | 170283030 | 170283030 | Human | | name |
| 15183971 | CV735538 | single nucleotide variant | NM_005618.4(DLL1):c.1959C>T (p.Ala653=) | not provided [RCV000908174] | likely benign | 6 | 170283320 | 170283320 | Human | | name |
| 15119210 | CV735539 | single nucleotide variant | NM_005618.4(DLL1):c.1866C>T (p.His622=) | DLL1-related disorder [RCV003910669]|not provided [RCV000895683] | likely benign | 6 | 170283413 | 170283413 | Human | 1 | name , trait , alternate_id |
| 15135647 | CV735540 | single nucleotide variant | NM_005618.4(DLL1):c.1830G>A (p.Thr610=) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003243367]|not provided [RCV000898495] | likely benign | 6 | 170283449 | 170283449 | Human | 1 | name |
| 15181568 | CV735541 | single nucleotide variant | NM_005618.4(DLL1):c.1689C>T (p.Ala563=) | not provided [RCV000907609] | likely benign | 6 | 170283590 | 170283590 | Human | | name |
| 15144540 | CV735542 | single nucleotide variant | NM_005618.4(DLL1):c.1650C>T (p.Ala550=) | not provided [RCV000900019] | benign|likely benign | 6 | 170283629 | 170283629 | Human | | name |
| 15153672 | CV735543 | single nucleotide variant | NM_005618.4(DLL1):c.1461C>T (p.His487=) | not provided [RCV000901806] | likely benign | 6 | 170283818 | 170283818 | Human | | name |
| 15138681 | CV735544 | single nucleotide variant | NM_005618.4(DLL1):c.1443C>T (p.Pro481=) | not provided [RCV000899024] | benign | 6 | 170283836 | 170283836 | Human | | name |
| 15156197 | CV735545 | single nucleotide variant | NM_005618.4(DLL1):c.1341C>T (p.Cys447=) | not provided [RCV000902285] | likely benign | 6 | 170283938 | 170283938 | Human | | name |
| 15119355 | CV735546 | single nucleotide variant | NM_005618.4(DLL1):c.1194C>T (p.Ser398=) | not provided [RCV000895711] | benign|likely benign | 6 | 170284974 | 170284974 | Human | | name |
| 15161811 | CV735547 | single nucleotide variant | NM_005618.4(DLL1):c.1068C>T (p.Pro356=) | not provided [RCV000903422] | likely benign | 6 | 170285100 | 170285100 | Human | | name |
| 15147178 | CV749981 | single nucleotide variant | NM_005618.4(DLL1):c.2082G>C (p.Ser694=) | not provided [RCV000922855] | likely benign | 6 | 170283072 | 170283072 | Human | | name |
| 15101164 | CV749982 | single nucleotide variant | NM_005618.4(DLL1):c.1881C>T (p.Ala627=) | DLL1-related disorder [RCV003895559]|Inborn genetic diseases [RCV004973163]|not provided [RCV000914731] | likely benign | 6 | 170283398 | 170283398 | Human | 2 | name , trait , alternate_id |
| 15098738 | CV749983 | single nucleotide variant | NM_005618.4(DLL1):c.1854G>A (p.Lys618=) | not provided [RCV000914319] | likely benign | 6 | 170283425 | 170283425 | Human | | name |
| 15099845 | CV749984 | single nucleotide variant | NM_005618.4(DLL1):c.1833G>A (p.Gln611=) | not provided [RCV000914517] | benign|likely benign | 6 | 170283446 | 170283446 | Human | | name |
| 15152519 | CV749985 | single nucleotide variant | NM_005618.4(DLL1):c.1599T>G (p.Thr533=) | not provided [RCV000923888] | likely benign | 6 | 170283680 | 170283680 | Human | | name |
| 15168609 | CV749986 | single nucleotide variant | NM_005618.4(DLL1):c.1269C>T (p.Leu423=) | not provided [RCV000927327] | likely benign | 6 | 170284010 | 170284010 | Human | | name |
| 15102123 | CV749987 | single nucleotide variant | NM_005618.4(DLL1):c.1131C>T (p.Asn377=) | not provided [RCV000914910] | benign | 6 | 170285037 | 170285037 | Human | | name |
| 15172283 | CV765592 | single nucleotide variant | NM_005618.4(DLL1):c.2031C>A (p.Thr677=) | DLL1-related disorder [RCV003903071]|not provided [RCV000928080] | likely benign | 6 | 170283248 | 170283248 | Human | 1 | name , trait , alternate_id |
| 15113494 | CV765593 | single nucleotide variant | NM_005618.4(DLL1):c.1995C>T (p.Cys665=) | not provided [RCV000939138] | likely benign | 6 | 170283284 | 170283284 | Human | | name |
| 15109707 | CV782496 | single nucleotide variant | NM_005618.4(DLL1):c.1050C>T (p.Tyr350=) | not provided [RCV000977291] | likely benign | 6 | 170285118 | 170285118 | Human | | name |
| 15173960 | CV789162 | single nucleotide variant | NM_005618.4(DLL1):c.231C>A (p.Cys77Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984541] | pathogenic | 6 | 170289632 | 170289632 | Human | 1 | name |
| 40886648 | CV973529 | deletion | NM_005618.4(DLL1):c.601del (p.His201fs) | Inborn genetic diseases [RCV001265839] | pathogenic | 6 | 170288308 | 170288308 | Human | 1 | name |
| 40889848 | CV975189 | duplication | NM_005618.4(DLL1):c.625dup (p.Glu209fs) | not provided [RCV001268334] | likely pathogenic | 6 | 170288283 | 170288284 | Human | | name |
| 127267061 | CV1060641 | deletion | NM_005618.4(DLL1):c.1616del (p.Gln539fs) | not provided [RCV001388872] | pathogenic | 6 | 170283663 | 170283663 | Human | | name |
| 127286211 | CV1161802 | single nucleotide variant | NM_005618.4(DLL1):c.553G>T (p.Gly185Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003154187] | likely pathogenic|uncertain significance | 6 | 170288356 | 170288356 | Human | 1 | name |
| 150417450 | CV1197506 | single nucleotide variant | NM_005618.4(DLL1):c.303C>A (p.Asp101Glu) | DLL1-related disorder [RCV003980715]|not provided [RCV001576303] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 170289560 | 170289560 | Human | 1 | name , trait , alternate_id |
| 150549501 | CV1295283 | single nucleotide variant | NM_005618.4(DLL1):c.598G>C (p.Gly200Arg) | not provided [RCV001765183] | uncertain significance | 6 | 170288311 | 170288311 | Human | | name |
| 150553569 | CV1303578 | single nucleotide variant | NM_005618.4(DLL1):c.941G>T (p.Cys314Phe) | not provided [RCV001769268] | uncertain significance | 6 | 170285345 | 170285345 | Human | | name |
| 151352265 | CV1322351 | single nucleotide variant | NM_005618.4(DLL1):c.349C>T (p.Pro117Ser) | not provided [RCV001806975] | uncertain significance | 6 | 170289514 | 170289514 | Human | | name |
| 151349706 | CV1325452 | duplication | NM_005618.4(DLL1):c.1574dup (p.Ala528fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001814738] | likely pathogenic | 6 | 170283704 | 170283705 | Human | 1 | name |
| 151819386 | CV1378221 | single nucleotide variant | NM_005618.4(DLL1):c.639C>A (p.Asn213Lys) | not provided [RCV002029738] | uncertain significance | 6 | 170288270 | 170288270 | Human | | name |
| 152085952 | CV1531625 | single nucleotide variant | NM_005618.4(DLL1):c.991G>A (p.Glu331Lys) | DLL1-related disorder [RCV004746596]|not provided [RCV002076984] | likely benign | 6 | 170285295 | 170285295 | Human | 1 | name , trait , alternate_id |
| 152095007 | CV1533916 | single nucleotide variant | NM_005618.4(DLL1):c.613G>A (p.Gly205Arg) | DLL1-related disorder [RCV003971102]|not provided [RCV002151088] | benign|likely benign | 6 | 170288296 | 170288296 | Human | 1 | name , trait , alternate_id |
| 152047788 | CV1569541 | single nucleotide variant | NM_005618.4(DLL1):c.670C>T (p.Pro224Ser) | not provided [RCV002126852] | likely benign | 6 | 170288239 | 170288239 | Human | | name |
| 153349189 | CV1694040 | single nucleotide variant | NM_005618.4(DLL1):c.406G>A (p.Ala136Thr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002275581]|not provided [RCV003096220] | likely benign|uncertain significance | 6 | 170288735 | 170288735 | Human | 1 | name |
| 155641684 | CV1707099 | single nucleotide variant | NM_005618.4(DLL1):c.965G>T (p.Gly322Val) | not provided [RCV002288029] | uncertain significance | 6 | 170285321 | 170285321 | Human | | name |
| 155803756 | CV1858322 | single nucleotide variant | NM_005618.4(DLL1):c.583C>T (p.Arg195Trp) | not provided [RCV002462631] | uncertain significance | 6 | 170288326 | 170288326 | Human | | name |
| 155798108 | CV1859591 | duplication | NM_005618.4(DLL1):c.1538dup (p.Pro514fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002465385] | pathogenic | 6 | 170283740 | 170283741 | Human | 1 | name |
| 155797183 | CV1860217 | single nucleotide variant | NM_005618.4(DLL1):c.974G>A (p.Cys325Tyr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002466858] | uncertain significance | 6 | 170285312 | 170285312 | Human | 1 | name |
| 155797315 | CV1860331 | single nucleotide variant | NM_005618.4(DLL1):c.905C>T (p.Ala302Val) | not provided [RCV002466973] | uncertain significance | 6 | 170285381 | 170285381 | Human | | name |
| 155797499 | CV1863356 | single nucleotide variant | NM_005618.4(DLL1):c.614G>C (p.Gly205Ala) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002470631]|not provided [RCV003775524] | uncertain significance | 6 | 170288295 | 170288295 | Human | 1 | name |
| 155800453 | CV1863602 | single nucleotide variant | NM_005618.4(DLL1):c.860A>G (p.Gln287Arg) | not provided [RCV002474025] | uncertain significance | 6 | 170285571 | 170285571 | Human | | name |
| 156319313 | CV1876299 | single nucleotide variant | NM_005618.4(DLL1):c.755G>A (p.Arg252Gln) | Inborn genetic diseases [RCV003062956]|not provided [RCV003062955] | uncertain significance | 6 | 170285676 | 170285676 | Human | 1 | name |
| 156237661 | CV1882222 | single nucleotide variant | NM_005618.4(DLL1):c.950G>A (p.Arg317Gln) | not provided [RCV003085625] | benign | 6 | 170285336 | 170285336 | Human | | name |
| 156026977 | CV1913864 | single nucleotide variant | NM_005618.4(DLL1):c.766G>C (p.Glu256Gln) | Inborn genetic diseases [RCV003274272]|not provided [RCV002619676] | likely benign|uncertain significance | 6 | 170285665 | 170285665 | Human | 1 | name |
| 156054518 | CV1935065 | single nucleotide variant | NM_005618.4(DLL1):c.515A>G (p.Lys172Arg) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005406477]|not provided [RCV003434495]|not specified [RCV002510352] | likely pathogenic|uncertain significance | 6 | 170288394 | 170288394 | Human | 1 | name |
| 156067973 | CV1975523 | single nucleotide variant | NM_005618.4(DLL1):c.900T>G (p.Asn300Lys) | Inborn genetic diseases [RCV003348868]|not provided [RCV002591187] | likely benign|uncertain significance | 6 | 170285386 | 170285386 | Human | 1 | name |
| 156237974 | CV1992425 | single nucleotide variant | NM_005618.4(DLL1):c.307G>A (p.Ala103Thr) | not provided [RCV002627035] | uncertain significance | 6 | 170289556 | 170289556 | Human | | name |
| 156117276 | CV2015746 | single nucleotide variant | NM_005618.4(DLL1):c.503G>A (p.Arg168His) | Inborn genetic diseases [RCV004973571]|not provided [RCV002695897] | uncertain significance | 6 | 170288406 | 170288406 | Human | 1 | name |
| 156245273 | CV2053297 | single nucleotide variant | NM_005618.4(DLL1):c.626A>G (p.Glu209Gly) | not provided [RCV002791499] | uncertain significance | 6 | 170288283 | 170288283 | Human | | name |
| 155940261 | CV2142874 | single nucleotide variant | NM_005618.4(DLL1):c.961A>T (p.Thr321Ser) | Inborn genetic diseases [RCV003170813]|not provided [RCV002994006] | likely benign|uncertain significance | 6 | 170285325 | 170285325 | Human | 1 | name |
| 156255654 | CV2194518 | single nucleotide variant | NM_005618.4(DLL1):c.452G>A (p.Arg151Lys) | Inborn genetic diseases [RCV002668649] | uncertain significance | 6 | 170288457 | 170288457 | Human | 1 | name |
| 156126424 | CV2234360 | single nucleotide variant | NM_005618.4(DLL1):c.671C>T (p.Pro224Leu) | Inborn genetic diseases [RCV002762642] | uncertain significance | 6 | 170286298 | 170286298 | Human | 1 | name |
| 156142758 | CV2257406 | single nucleotide variant | NM_005618.4(DLL1):c.772A>G (p.Ile258Val) | Inborn genetic diseases [RCV002826304] | uncertain significance | 6 | 170285659 | 170285659 | Human | 1 | name |
| 156063076 | CV2277335 | single nucleotide variant | NM_005618.4(DLL1):c.830A>G (p.Gln277Arg) | Inborn genetic diseases [RCV002868268]|not provided [RCV003225258] | uncertain significance | 6 | 170285601 | 170285601 | Human | 1 | name |
| 156285315 | CV2291974 | single nucleotide variant | NM_005618.4(DLL1):c.473A>C (p.Glu158Ala) | Inborn genetic diseases [RCV002896775] | uncertain significance | 6 | 170288436 | 170288436 | Human | 1 | name |
| 243062482 | CV2404927 | single nucleotide variant | NM_005618.4(DLL1):c.506C>T (p.Thr169Met) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003140477]|not provided [RCV005060949] | uncertain significance | 6 | 170288403 | 170288403 | Human | 1 | name |
| 243050803 | CV2415585 | single nucleotide variant | NM_005618.4(DLL1):c.788G>A (p.Cys263Tyr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003148185] | uncertain significance | 6 | 170285643 | 170285643 | Human | 1 | name |
| 243049707 | CV2417067 | deletion | NM_005618.4(DLL1):c.1013del (p.Lys338fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003151937] | likely pathogenic | 6 | 170285273 | 170285273 | Human | 1 | name |
| 329395058 | CV2473015 | single nucleotide variant | NM_005618.4(DLL1):c.556G>A (p.Glu186Lys) | not provided [RCV003218998] | uncertain significance | 6 | 170288353 | 170288353 | Human | | name |
| 329395124 | CV2473032 | single nucleotide variant | NM_005618.4(DLL1):c.479C>G (p.Ser160Cys) | not provided [RCV003219016] | uncertain significance | 6 | 170288430 | 170288430 | Human | | name |
| 329351099 | CV2477928 | single nucleotide variant | NM_005618.4(DLL1):c.526C>T (p.Arg176Cys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003989826]|not provided [RCV003224041] | uncertain significance | 6 | 170288383 | 170288383 | Human | 1 | name |
| 329953023 | CV2669732 | single nucleotide variant | NM_005618.4(DLL1):c.527G>T (p.Arg176Leu) | not provided [RCV003234356] | uncertain significance | 6 | 170288382 | 170288382 | Human | | name |
| 401724698 | CV2672302 | single nucleotide variant | NM_005618.4(DLL1):c.821G>C (p.Cys274Ser) | not provided [RCV003239203] | uncertain significance | 6 | 170285610 | 170285610 | Human | | name |
| 401720420 | CV2737240 | deletion | NM_005618.4(DLL1):c.1443del (p.Val482fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003314179] | likely pathogenic | 6 | 170283836 | 170283836 | Human | 1 | name |
| 401829815 | CV2744013 | deletion | NM_005618.4(DLL1):c.1775del (p.Asn592fs) | not provided [RCV003327178] | pathogenic | 6 | 170283504 | 170283504 | Human | | name |
| 401875462 | CV2749991 | single nucleotide variant | NM_005618.4(DLL1):c.541G>A (p.Glu181Lys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003333405] | uncertain significance | 6 | 170288368 | 170288368 | Human | 1 | name |
| 401860214 | CV2751938 | deletion | NM_005618.4(DLL1):c.1903del (p.Arg635fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003335821] | likely pathogenic | 6 | 170283376 | 170283376 | Human | 1 | name |
| 401887123 | CV2775629 | single nucleotide variant | NM_005618.4(DLL1):c.998A>T (p.Asp333Val) | Inborn genetic diseases [RCV003352212] | uncertain significance | 6 | 170285288 | 170285288 | Human | 1 | name |
| 401909150 | CV2803844 | single nucleotide variant | NM_005618.4(DLL1):c.782C>T (p.Pro261Leu) | DLL1-related disorder [RCV003397783] | uncertain significance | 6 | 170285649 | 170285649 | Human | | name , trait , alternate_id |
| 401921088 | CV2828153 | single nucleotide variant | NM_005618.4(DLL1):c.844G>T (p.Gly282Cys) | not provided [RCV003432183] | uncertain significance | 6 | 170285587 | 170285587 | Human | | name |
| 401914877 | CV2830872 | single nucleotide variant | NM_005618.4(DLL1):c.757T>C (p.Tyr253His) | not provided [RCV003442611] | uncertain significance | 6 | 170285674 | 170285674 | Human | | name |
| 405076613 | CV2869542 | single nucleotide variant | NM_005618.4(DLL1):c.403C>T (p.Leu135Phe) | not provided [RCV003548852] | uncertain significance | 6 | 170288738 | 170288738 | Human | | name |
| 402497362 | CV2871606 | single nucleotide variant | NM_005618.4(DLL1):c.932G>A (p.Ser311Asn) | not provided [RCV003545554] | uncertain significance | 6 | 170285354 | 170285354 | Human | | name |
| 405011836 | CV2923354 | single nucleotide variant | NM_005618.4(DLL1):c.776G>T (p.Arg259Leu) | not provided [RCV003576675] | uncertain significance | 6 | 170285655 | 170285655 | Human | | name |
| 405241160 | CV2970678 | single nucleotide variant | NM_005618.4(DLL1):c.619C>A (p.Arg207Ser) | Inborn genetic diseases [RCV004980907]|not provided [RCV003684073] | uncertain significance | 6 | 170288290 | 170288290 | Human | 1 | name |
| 405212188 | CV2974463 | single nucleotide variant | NM_005618.4(DLL1):c.497G>T (p.Ser166Ile) | not provided [RCV003679556] | uncertain significance | 6 | 170288412 | 170288412 | Human | | name |
| 405036128 | CV3016759 | single nucleotide variant | NM_005618.4(DLL1):c.336C>G (p.Phe112Leu) | not provided [RCV003695958] | uncertain significance | 6 | 170289527 | 170289527 | Human | | name |
| 405123596 | CV3021048 | single nucleotide variant | NM_005618.4(DLL1):c.718C>A (p.Pro240Thr) | not provided [RCV003701016] | uncertain significance | 6 | 170286251 | 170286251 | Human | | name |
| 405220134 | CV3032068 | single nucleotide variant | NM_005618.4(DLL1):c.734G>A (p.Cys245Tyr) | not provided [RCV003709846] | uncertain significance | 6 | 170285697 | 170285697 | Human | | name |
| 405073129 | CV3034550 | single nucleotide variant | NM_005618.4(DLL1):c.461C>T (p.Thr154Met) | not provided [RCV003698438] | uncertain significance | 6 | 170288448 | 170288448 | Human | | name |
| 405250671 | CV3053036 | single nucleotide variant | NM_005618.4(DLL1):c.343A>T (p.Thr115Ser) | not provided [RCV003721686] | uncertain significance | 6 | 170289520 | 170289520 | Human | | name |
| 405254207 | CV3055120 | single nucleotide variant | NM_005618.4(DLL1):c.587A>G (p.Asp196Gly) | not provided [RCV003722901] | uncertain significance | 6 | 170288322 | 170288322 | Human | | name |
| 405215302 | CV3066523 | single nucleotide variant | NM_005618.4(DLL1):c.949C>T (p.Arg317Trp) | not provided [RCV003732495] | uncertain significance | 6 | 170285337 | 170285337 | Human | | name |
| 405200612 | CV3066766 | single nucleotide variant | NM_005618.4(DLL1):c.607A>G (p.Thr203Ala) | not provided [RCV003730737] | uncertain significance | 6 | 170288302 | 170288302 | Human | | name |
| 405229214 | CV3075503 | single nucleotide variant | NM_005618.4(DLL1):c.766G>A (p.Glu256Lys) | not provided [RCV003734602] | uncertain significance | 6 | 170285665 | 170285665 | Human | | name |
| 404983682 | CV3121634 | single nucleotide variant | NM_005618.4(DLL1):c.674T>C (p.Ile225Thr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005419718]|not provided [RCV003826433] | uncertain significance | 6 | 170286295 | 170286295 | Human | 1 | name |
| 405035898 | CV3140440 | single nucleotide variant | NM_005618.4(DLL1):c.691G>A (p.Asp231Asn) | not provided [RCV003830922] | uncertain significance | 6 | 170286278 | 170286278 | Human | | name |
| 405173481 | CV3151811 | single nucleotide variant | NM_005618.4(DLL1):c.395C>T (p.Pro132Leu) | not provided [RCV003857962] | uncertain significance | 6 | 170288746 | 170288746 | Human | | name |
| 405267313 | CV3186808 | single nucleotide variant | NM_005618.4(DLL1):c.400G>A (p.Asp134Asn) | not provided [RCV003886889] | likely benign | 6 | 170288741 | 170288741 | Human | | name |
| 405262431 | CV3200281 | single nucleotide variant | NM_005618.4(DLL1):c.975C>A (p.Cys325Ter) | DLL1-related disorder [RCV003967302] | likely pathogenic | 6 | 170285311 | 170285311 | Human | | name , trait , alternate_id |
| 405708136 | CV3240467 | single nucleotide variant | NM_005618.4(DLL1):c.461C>G (p.Thr154Arg) | Inborn genetic diseases [RCV004376223] | uncertain significance | 6 | 170288448 | 170288448 | Human | 1 | name |
| 405708151 | CV3240469 | single nucleotide variant | NM_005618.4(DLL1):c.588C>G (p.Asp196Glu) | Inborn genetic diseases [RCV004376225] | uncertain significance | 6 | 170288321 | 170288321 | Human | 1 | name |
| 405708155 | CV3240470 | single nucleotide variant | NM_005618.4(DLL1):c.632T>C (p.Val211Ala) | Inborn genetic diseases [RCV004376226] | uncertain significance | 6 | 170288277 | 170288277 | Human | 1 | name |
| 405708165 | CV3240471 | single nucleotide variant | NM_005618.4(DLL1):c.807G>C (p.Gln269His) | Inborn genetic diseases [RCV004376227] | likely benign | 6 | 170285624 | 170285624 | Human | 1 | name |
| 405708170 | CV3240472 | single nucleotide variant | NM_005618.4(DLL1):c.985A>G (p.Ile329Val) | Inborn genetic diseases [RCV004376228] | likely benign | 6 | 170285301 | 170285301 | Human | 1 | name |
| 407427722 | CV3412021 | single nucleotide variant | NM_005618.4(DLL1):c.889C>T (p.Pro297Ser) | not provided [RCV004592192] | uncertain significance | 6 | 170285397 | 170285397 | Human | | name |
| 407428952 | CV3413339 | single nucleotide variant | NM_005618.4(DLL1):c.611G>A (p.Cys204Tyr) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004594745] | likely pathogenic | 6 | 170288298 | 170288298 | Human | 1 | name |
| 408370013 | CV3502976 | single nucleotide variant | NM_005618.4(DLL1):c.959A>G (p.Tyr320Cys) | not provided [RCV004724097] | uncertain significance | 6 | 170285327 | 170285327 | Human | | name |
| 408394421 | CV3518223 | single nucleotide variant | NM_005618.4(DLL1):c.552C>G (p.Tyr184Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004759546] | pathogenic | 6 | 170288357 | 170288357 | Human | 1 | name |
| 408388484 | CV3520758 | single nucleotide variant | NM_005618.4(DLL1):c.577C>T (p.Arg193Cys) | not provided [RCV004761591] | uncertain significance | 6 | 170288332 | 170288332 | Human | | name |
| 408393403 | CV3525511 | deletion | NM_005618.4(DLL1):c.1480del (p.Ala494fs) | not provided [RCV004771397] | pathogenic | 6 | 170283799 | 170283799 | Human | | name |
| 408385659 | CV3528617 | single nucleotide variant | NM_005618.4(DLL1):c.350C>A (p.Pro117Gln) | not provided [RCV004772450] | uncertain significance | 6 | 170289513 | 170289513 | Human | | name |
| 596926037 | CV3530674 | single nucleotide variant | NM_005618.4(DLL1):c.754C>G (p.Arg252Gly) | not provided [RCV004778259] | uncertain significance | 6 | 170285677 | 170285677 | Human | | name |
| 596930155 | CV3531393 | single nucleotide variant | NM_005618.4(DLL1):c.797G>A (p.Gly266Asp) | not provided [RCV004779967] | uncertain significance | 6 | 170285634 | 170285634 | Human | | name |
| 596927779 | CV3541226 | single nucleotide variant | NM_005618.4(DLL1):c.845G>T (p.Gly282Val) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004797097] | uncertain significance | 6 | 170285586 | 170285586 | Human | 1 | name |
| 596943643 | CV3542928 | single nucleotide variant | NM_005618.4(DLL1):c.648G>C (p.Trp216Cys) | not provided [RCV004798513] | uncertain significance | 6 | 170288261 | 170288261 | Human | | name |
| 597658083 | CV3731750 | single nucleotide variant | NM_005618.4(DLL1):c.482A>T (p.Gln161Leu) | not provided [RCV005001931] | uncertain significance | 6 | 170288427 | 170288427 | Human | | name |
| 597831422 | CV3735062 | single nucleotide variant | NM_005618.4(DLL1):c.821G>A (p.Cys274Tyr) | not provided [RCV005054795] | uncertain significance | 6 | 170285610 | 170285610 | Human | | name |
| 597940303 | CV3788587 | deletion | NM_005618.4(DLL1):c.2002del (p.Gln668fs) | not provided [RCV005133262] | uncertain significance | 6 | 170283277 | 170283277 | Human | | name |
| 597909212 | CV3806338 | single nucleotide variant | NM_005618.4(DLL1):c.308C>T (p.Ala103Val) | not provided [RCV005153905] | uncertain significance | 6 | 170289555 | 170289555 | Human | | name |
| 597936118 | CV3863713 | single nucleotide variant | NM_005618.4(DLL1):c.978G>T (p.Glu326Asp) | not provided [RCV005207526] | uncertain significance | 6 | 170285308 | 170285308 | Human | | name |
| 598231252 | CV3886439 | single nucleotide variant | NM_005618.4(DLL1):c.839G>A (p.Trp280Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005255883] | likely pathogenic | 6 | 170285592 | 170285592 | Human | 1 | name |
| 598184443 | CV3960270 | single nucleotide variant | NM_005618.4(DLL1):c.331C>T (p.Pro111Ser) | Inborn genetic diseases [RCV005333680] | uncertain significance | 6 | 170289532 | 170289532 | Human | 1 | name |
| 598184459 | CV3960273 | single nucleotide variant | NM_005618.4(DLL1):c.343A>G (p.Thr115Ala) | Inborn genetic diseases [RCV005333683] | uncertain significance | 6 | 170289520 | 170289520 | Human | 1 | name |
| 598184464 | CV3960274 | single nucleotide variant | NM_005618.4(DLL1):c.775C>T (p.Arg259Cys) | Inborn genetic diseases [RCV005333684] | uncertain significance | 6 | 170285656 | 170285656 | Human | 1 | name |
| 40887052 | CV973528 | single nucleotide variant | NM_005618.4(DLL1):c.769T>G (p.Cys257Gly) | Inborn genetic diseases [RCV001266441] | uncertain significance | 6 | 170285662 | 170285662 | Human | 1 | name |
| 150479994 | CV1207930 | single nucleotide variant | NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys) | DLL1-related disorder [RCV003941039]|not provided [RCV001590206] | benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 170283298 | 170283298 | Human | 1 | name , trait , alternate_id |
| 150516802 | CV1288127 | single nucleotide variant | NM_005618.4(DLL1):c.1964G>A (p.Arg655Lys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001723523] | uncertain significance | 6 | 170283315 | 170283315 | Human | 1 | name |
| 150547466 | CV1303668 | single nucleotide variant | NM_005618.4(DLL1):c.1267C>G (p.Leu423Val) | not provided [RCV001763771] | uncertain significance | 6 | 170284012 | 170284012 | Human | | name |
| 150556605 | CV1305516 | single nucleotide variant | NM_005618.4(DLL1):c.1729C>T (p.Arg577Trp) | Inborn genetic diseases [RCV003163888]|not provided [RCV001774505] | likely benign|uncertain significance | 6 | 170283550 | 170283550 | Human | 1 | name |
| 150545649 | CV1315822 | single nucleotide variant | NM_005618.4(DLL1):c.1343C>T (p.Ala448Val) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001784153]|not provided [RCV003772167] | uncertain significance | 6 | 170283936 | 170283936 | Human | 1 | name |
| 151236143 | CV1319574 | single nucleotide variant | NM_005618.4(DLL1):c.1778T>G (p.Leu593Arg) | not provided [RCV001797519] | uncertain significance | 6 | 170283501 | 170283501 | Human | | name |
| 151353485 | CV1326626 | single nucleotide variant | NM_005618.4(DLL1):c.1558C>T (p.Leu520Phe) | not provided [RCV001816451] | uncertain significance | 6 | 170283721 | 170283721 | Human | | name |
| 151809179 | CV1337329 | single nucleotide variant | NM_005618.4(DLL1):c.1462G>A (p.Ala488Thr) | not provided [RCV002028802] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 170283817 | 170283817 | Human | | name |
| 151892240 | CV1337488 | single nucleotide variant | NM_005618.4(DLL1):c.1375C>T (p.Arg459Trp) | Inborn genetic diseases [RCV002558431]|not provided [RCV001943907] | uncertain significance | 6 | 170283904 | 170283904 | Human | 1 | name |
| 151815885 | CV1344344 | single nucleotide variant | NM_005618.4(DLL1):c.1648G>A (p.Ala550Thr) | Inborn genetic diseases [RCV003247149]|not provided [RCV001919075] | uncertain significance | 6 | 170283631 | 170283631 | Human | 1 | name |
| 151882106 | CV1364067 | single nucleotide variant | NM_005618.4(DLL1):c.1647C>A (p.Cys549Ter) | not provided [RCV001999761] | pathogenic | 6 | 170283632 | 170283632 | Human | | name |
| 151717583 | CV1380503 | single nucleotide variant | NM_005618.4(DLL1):c.1300G>A (p.Gly434Ser) | Inborn genetic diseases [RCV002579590]|not provided [RCV002003152]|not specified [RCV004526168] | uncertain significance | 6 | 170283979 | 170283979 | Human | 1 | name |
| 151775189 | CV1402514 | single nucleotide variant | NM_005618.4(DLL1):c.1873C>A (p.His625Asn) | not provided [RCV001929909] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 170283406 | 170283406 | Human | | name |
| 151709957 | CV1433466 | single nucleotide variant | NM_005618.4(DLL1):c.1597A>G (p.Thr533Ala) | not provided [RCV002001750] | uncertain significance | 6 | 170283682 | 170283682 | Human | | name |
| 151718399 | CV1469323 | single nucleotide variant | NM_005618.4(DLL1):c.1570C>T (p.Pro524Ser) | Inborn genetic diseases [RCV004038867]|not provided [RCV002039689] | likely benign|uncertain significance | 6 | 170283709 | 170283709 | Human | 1 | name |
| 151751802 | CV1473570 | single nucleotide variant | NM_005618.4(DLL1):c.1018G>A (p.Gly340Arg) | Inborn genetic diseases [RCV002547979]|not provided [RCV001872324] | uncertain significance | 6 | 170285268 | 170285268 | Human | 1 | name |
| 151816656 | CV1485743 | single nucleotide variant | NM_005618.4(DLL1):c.1289G>A (p.Arg430His) | Inborn genetic diseases [RCV002548804]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002486718]|not provided [RCV002029488] | uncertain significance | 6 | 170283990 | 170283990 | Human | 2 | name |
| 151723604 | CV1495328 | single nucleotide variant | NM_005618.4(DLL1):c.1174C>T (p.Arg392Cys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002266082]|not provided [RCV001983406] | uncertain significance | 6 | 170284994 | 170284994 | Human | 1 | name |
| 151880944 | CV1499661 | single nucleotide variant | NM_005618.4(DLL1):c.1723A>G (p.Lys575Glu) | not provided [RCV001886469] | uncertain significance | 6 | 170283556 | 170283556 | Human | | name |
| 151719916 | CV1500376 | single nucleotide variant | NM_005618.4(DLL1):c.1098T>G (p.Ser366Arg) | not provided [RCV001909566] | uncertain significance | 6 | 170285070 | 170285070 | Human | | name |
| 152143612 | CV1538430 | single nucleotide variant | NM_005618.4(DLL1):c.1829C>T (p.Thr610Met) | DLL1-related disorder [RCV004747032]|not provided [RCV002219702] | likely benign | 6 | 170283450 | 170283450 | Human | 1 | name , trait , alternate_id |
| 152067837 | CV1566962 | single nucleotide variant | NM_005618.4(DLL1):c.1516G>A (p.Glu506Lys) | DLL1-related disorder [RCV003913640]|not provided [RCV002091170] | benign|likely benign | 6 | 170283763 | 170283763 | Human | 1 | name , trait , alternate_id |
| 152113588 | CV1639390 | single nucleotide variant | NM_005618.4(DLL1):c.2081C>T (p.Ser694Leu) | not provided [RCV002197105] | likely benign | 6 | 170283073 | 170283073 | Human | | name |
| 152103359 | CV1667434 | single nucleotide variant | NM_005618.4(DLL1):c.1822G>A (p.Gly608Arg) | not provided [RCV002214421]|not specified [RCV003987986] | uncertain significance | 6 | 170283457 | 170283457 | Human | | name |
| 152978346 | CV1671537 | single nucleotide variant | NM_005618.4(DLL1):c.2075C>T (p.Pro692Leu) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002227642]|not provided [RCV003434455] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 170283079 | 170283079 | Human | 1 | name |
| 152978544 | CV1671710 | single nucleotide variant | NM_005618.4(DLL1):c.1551G>C (p.Gln517His) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002227815]|not provided [RCV003458134] | uncertain significance | 6 | 170283728 | 170283728 | Human | 1 | name |
| 152979441 | CV1675561 | single nucleotide variant | NM_005618.4(DLL1):c.1903C>T (p.Arg635Cys) | Inborn genetic diseases [RCV003093939]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002244151]|not provided [RCV003093938] | uncertain significance | 6 | 170283376 | 170283376 | Human | 2 | name |
| 153301108 | CV1688953 | single nucleotide variant | NM_005618.4(DLL1):c.1384G>A (p.Val462Met) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002266681]|not provided [RCV003718466] | uncertain significance | 6 | 170283895 | 170283895 | Human | 1 | name |
| 153347885 | CV1694934 | single nucleotide variant | NM_005618.4(DLL1):c.1300G>T (p.Gly434Cys) | not provided [RCV002278864] | uncertain significance | 6 | 170283979 | 170283979 | Human | | name |
| 155267007 | CV1699383 | single nucleotide variant | NM_005618.4(DLL1):c.2008T>C (p.Ser670Pro) | not provided [RCV002283178] | uncertain significance | 6 | 170283271 | 170283271 | Human | | name |
| 155644132 | CV1706921 | single nucleotide variant | NM_005618.4(DLL1):c.1366G>A (p.Gly456Ser) | not provided [RCV002290875] | uncertain significance | 6 | 170283913 | 170283913 | Human | | name |
| 9686954 | CV171413 | single nucleotide variant | NM_005618.4(DLL1):c.1711C>A (p.Leu571Met) | Prostate cancer [RCV000149173] | uncertain significance | 6 | 170283568 | 170283568 | Human | 2 | name |
| 155664667 | CV1773270 | single nucleotide variant | NM_005618.4(DLL1):c.1682G>C (p.Gly561Ala) | not provided [RCV002296982] | uncertain significance | 6 | 170283597 | 170283597 | Human | | name |
| 155749983 | CV1774779 | single nucleotide variant | NM_005618.4(DLL1):c.2074C>G (p.Pro692Ala) | not provided [RCV002305228] | uncertain significance | 6 | 170283080 | 170283080 | Human | | name |
| 155700131 | CV1776095 | single nucleotide variant | NM_005618.4(DLL1):c.2116T>C (p.Ser706Pro) | not provided [RCV002299916] | uncertain significance | 6 | 170283038 | 170283038 | Human | | name |
| 155741288 | CV1779920 | single nucleotide variant | NM_005618.4(DLL1):c.1085T>G (p.Ile362Ser) | not specified [RCV002302524] | uncertain significance | 6 | 170285083 | 170285083 | Human | | name |
| 155800552 | CV1863679 | single nucleotide variant | NM_005618.4(DLL1):c.1968C>G (p.Asp656Glu) | not provided [RCV002474102] | uncertain significance | 6 | 170283311 | 170283311 | Human | | name |
| 156392843 | CV1869734 | single nucleotide variant | NM_005618.4(DLL1):c.1760C>T (p.Thr587Met) | DLL1-related disorder [RCV003404042]|Inborn genetic diseases [RCV003051515]|not provided [RCV003051516] | likely benign|uncertain significance | 6 | 170283519 | 170283519 | Human | 2 | name , trait , alternate_id |
| 155984608 | CV1883879 | single nucleotide variant | NM_005618.4(DLL1):c.1957G>A (p.Ala653Thr) | Inborn genetic diseases [RCV003075825]|not provided [RCV003086139] | likely benign|uncertain significance | 6 | 170283322 | 170283322 | Human | 1 | name |
| 156149428 | CV1895862 | single nucleotide variant | NM_005618.4(DLL1):c.1093T>A (p.Leu365Met) | not provided [RCV003082498] | likely benign | 6 | 170285075 | 170285075 | Human | | name |
| 156276354 | CV1900258 | single nucleotide variant | NM_005618.4(DLL1):c.1526G>A (p.Arg509Gln) | not provided [RCV003086964] | uncertain significance | 6 | 170283753 | 170283753 | Human | | name |
| 155954619 | CV1906994 | single nucleotide variant | NM_005618.4(DLL1):c.1879G>A (p.Ala627Thr) | not provided [RCV003095514] | uncertain significance | 6 | 170283400 | 170283400 | Human | | name |
| 156323365 | CV1908315 | single nucleotide variant | NM_005618.4(DLL1):c.1409C>T (p.Pro470Leu) | not provided [RCV002579394] | likely benign | 6 | 170283870 | 170283870 | Human | | name |
| 156356768 | CV1917683 | single nucleotide variant | NM_005618.4(DLL1):c.1867G>A (p.Gly623Arg) | Inborn genetic diseases [RCV005333526]|not provided [RCV002632393] | uncertain significance | 6 | 170283412 | 170283412 | Human | 1 | name |
| 155948950 | CV1921807 | single nucleotide variant | NM_005618.4(DLL1):c.1912G>A (p.Ala638Thr) | not provided [RCV002616110] | likely benign | 6 | 170283367 | 170283367 | Human | | name |
| 156295907 | CV1923158 | single nucleotide variant | NM_005618.4(DLL1):c.1762G>A (p.Glu588Lys) | Inborn genetic diseases [RCV004978710]|not provided [RCV002647402] | likely benign|uncertain significance | 6 | 170283517 | 170283517 | Human | 1 | name |
| 156444311 | CV1938165 | single nucleotide variant | NM_005618.4(DLL1):c.1454G>A (p.Cys485Tyr) | not provided [RCV003115234] | uncertain significance | 6 | 170283825 | 170283825 | Human | | name |
| 156447033 | CV1944666 | single nucleotide variant | NM_005618.4(DLL1):c.1730G>A (p.Arg577Gln) | not provided [RCV003118559] | uncertain significance | 6 | 170283549 | 170283549 | Human | | name |
| 156446961 | CV1948654 | single nucleotide variant | NM_005618.4(DLL1):c.2125G>A (p.Val709Ile) | DLL1-related disorder [RCV003973762]|not provided [RCV003118484] | likely benign | 6 | 170283029 | 170283029 | Human | 1 | name , trait , alternate_id |
| 156352600 | CV1965569 | single nucleotide variant | NM_005618.4(DLL1):c.1112C>T (p.Ala371Val) | See cases [RCV003128458]|not provided [RCV002581168] | uncertain significance | 6 | 170285056 | 170285056 | Human | | name |
| 155907862 | CV1979882 | single nucleotide variant | NM_005618.4(DLL1):c.1642G>A (p.Val548Met) | Inborn genetic diseases [RCV004973512]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146592]|not provided [RCV002613778] | uncertain significance | 6 | 170283637 | 170283637 | Human | 2 | name |
| 155908506 | CV1979939 | single nucleotide variant | NM_005618.4(DLL1):c.1588G>A (p.Val530Met) | not provided [RCV002613818] | uncertain significance | 6 | 170283691 | 170283691 | Human | | name |
| 156000326 | CV1987131 | single nucleotide variant | NM_005618.4(DLL1):c.1099G>A (p.Ala367Thr) | Inborn genetic diseases [RCV002618415]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146595]|not provided [RCV002618414] | uncertain significance | 6 | 170285069 | 170285069 | Human | 2 | name |
| 155992605 | CV1990578 | single nucleotide variant | NM_005618.4(DLL1):c.2022G>C (p.Glu674Asp) | not provided [RCV002618086] | uncertain significance | 6 | 170283257 | 170283257 | Human | | name |
| 156372486 | CV1993660 | single nucleotide variant | NM_005618.4(DLL1):c.1741G>A (p.Asp581Asn) | not provided [RCV002653018] | uncertain significance | 6 | 170283538 | 170283538 | Human | | name |
| 156173935 | CV2000187 | single nucleotide variant | NM_005618.4(DLL1):c.1726C>T (p.His576Tyr) | not provided [RCV002642807] | uncertain significance | 6 | 170283553 | 170283553 | Human | | name |
| 156143498 | CV2002869 | single nucleotide variant | NM_005618.4(DLL1):c.1052C>T (p.Ser351Phe) | not provided [RCV002663654] | uncertain significance | 6 | 170285116 | 170285116 | Human | | name |
| 156223198 | CV2009281 | single nucleotide variant | NM_005618.4(DLL1):c.1424G>A (p.Gly475Asp) | DLL1-related disorder [RCV003409910]|Inborn genetic diseases [RCV005333316]|not provided [RCV002701084] | uncertain significance | 6 | 170283855 | 170283855 | Human | 2 | name , trait , alternate_id |
| 156366123 | CV2020909 | single nucleotide variant | NM_005618.4(DLL1):c.1943A>T (p.Lys648Met) | not provided [RCV002721195] | uncertain significance | 6 | 170283336 | 170283336 | Human | | name |
| 156028615 | CV2022532 | single nucleotide variant | NM_005618.4(DLL1):c.1631C>T (p.Pro544Leu) | not provided [RCV002735707] | uncertain significance | 6 | 170283648 | 170283648 | Human | | name |
| 156104704 | CV2038451 | single nucleotide variant | NM_005618.4(DLL1):c.1556T>C (p.Leu519Pro) | not provided [RCV002761449] | uncertain significance | 6 | 170283723 | 170283723 | Human | | name |
| 155944357 | CV2039487 | single nucleotide variant | NM_005618.4(DLL1):c.1753G>C (p.Gly585Arg) | not provided [RCV002775393] | uncertain significance | 6 | 170283526 | 170283526 | Human | | name |
| 155937426 | CV2045073 | single nucleotide variant | NM_005618.4(DLL1):c.2045G>C (p.Arg682Thr) | not provided [RCV002774972] | uncertain significance | 6 | 170283234 | 170283234 | Human | | name |
| 156233058 | CV2048833 | single nucleotide variant | NM_005618.4(DLL1):c.2152G>A (p.Val718Ile) | not provided [RCV002791071] | uncertain significance | 6 | 170283002 | 170283002 | Human | | name |
| 156171174 | CV2053377 | single nucleotide variant | NM_005618.4(DLL1):c.2024A>G (p.Lys675Arg) | not provided [RCV002801956] | uncertain significance | 6 | 170283255 | 170283255 | Human | | name |
| 155996047 | CV2064036 | single nucleotide variant | NM_005618.4(DLL1):c.1297G>C (p.Ala433Pro) | not provided [RCV002843186] | uncertain significance | 6 | 170283982 | 170283982 | Human | | name |
| 156099608 | CV2117082 | single nucleotide variant | NM_005618.4(DLL1):c.1793G>A (p.Arg598His) | not provided [RCV002952688] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 170283486 | 170283486 | Human | | name |
| 156145607 | CV2118085 | single nucleotide variant | NM_005618.4(DLL1):c.1960G>A (p.Val654Ile) | Inborn genetic diseases [RCV004068007]|not provided [RCV002928722] | uncertain significance | 6 | 170283319 | 170283319 | Human | 1 | name |
| 156351960 | CV2118665 | single nucleotide variant | NM_005618.4(DLL1):c.1856C>T (p.Ala619Val) | Inborn genetic diseases [RCV004614280]|not provided [RCV002966365] | likely benign | 6 | 170283423 | 170283423 | Human | 1 | name |
| 156313141 | CV2120147 | single nucleotide variant | NM_005618.4(DLL1):c.1421C>T (p.Thr474Met) | Inborn genetic diseases [RCV003269361]|not provided [RCV002962736] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 170283858 | 170283858 | Human | 1 | name |
| 156313859 | CV2120202 | single nucleotide variant | NM_005618.4(DLL1):c.1750C>T (p.Arg584Trp) | Inborn genetic diseases [RCV002962777]|not provided [RCV002962776] | likely benign|uncertain significance | 6 | 170283529 | 170283529 | Human | 1 | name |
| 156385846 | CV2125504 | single nucleotide variant | NM_005618.4(DLL1):c.1930G>A (p.Val644Met) | not provided [RCV002943477] | uncertain significance | 6 | 170283349 | 170283349 | Human | | name |
| 156245888 | CV2126459 | single nucleotide variant | NM_005618.4(DLL1):c.1951G>A (p.Asp651Asn) | Inborn genetic diseases [RCV003269354]|not provided [RCV002959035] | uncertain significance | 6 | 170283328 | 170283328 | Human | 1 | name |
| 156119754 | CV2128469 | single nucleotide variant | NM_005618.4(DLL1):c.1621G>A (p.Gly541Arg) | not provided [RCV002953451] | uncertain significance | 6 | 170283658 | 170283658 | Human | | name |
| 156112278 | CV2136244 | single nucleotide variant | NM_005618.4(DLL1):c.2033C>T (p.Pro678Leu) | not provided [RCV003002645] | uncertain significance | 6 | 170283246 | 170283246 | Human | | name |
| 156316863 | CV2140360 | single nucleotide variant | NM_005618.4(DLL1):c.1850A>C (p.Lys617Thr) | not provided [RCV003011440] | uncertain significance | 6 | 170283429 | 170283429 | Human | | name |
| 156313727 | CV2143896 | single nucleotide variant | NM_005618.4(DLL1):c.1577G>C (p.Gly526Ala) | Inborn genetic diseases [RCV004978458]|not provided [RCV003011263] | likely benign|uncertain significance | 6 | 170283702 | 170283702 | Human | 1 | name |
| 156366271 | CV2192333 | single nucleotide variant | NM_005618.4(DLL1):c.1192T>C (p.Ser398Pro) | not provided [RCV003065970] | uncertain significance | 6 | 170284976 | 170284976 | Human | | name |
| 156039867 | CV2219419 | single nucleotide variant | NM_005618.4(DLL1):c.1709G>A (p.Arg570Gln) | Inborn genetic diseases [RCV002692184]|not provided [RCV003561084] | uncertain significance | 6 | 170283570 | 170283570 | Human | 1 | name |
| 156343429 | CV2232730 | single nucleotide variant | NM_005618.4(DLL1):c.1106C>T (p.Thr369Ile) | Inborn genetic diseases [RCV002719408]|not provided [RCV003561090] | uncertain significance | 6 | 170285062 | 170285062 | Human | 1 | name |
| 156315487 | CV2250774 | single nucleotide variant | NM_005618.4(DLL1):c.1390G>A (p.Asp464Asn) | Inborn genetic diseases [RCV002809467] | uncertain significance | 6 | 170283889 | 170283889 | Human | 1 | name |
| 156092113 | CV2256642 | single nucleotide variant | NM_005618.4(DLL1):c.1735C>A (p.Pro579Thr) | Inborn genetic diseases [RCV002798573] | uncertain significance | 6 | 170283544 | 170283544 | Human | 1 | name |
| 155958151 | CV2282160 | single nucleotide variant | NM_005618.4(DLL1):c.1363G>A (p.Gly455Arg) | Inborn genetic diseases [RCV002841052]|not provided [RCV005059306] | uncertain significance | 6 | 170283916 | 170283916 | Human | 1 | name |
| 156286450 | CV2288300 | single nucleotide variant | NM_005618.4(DLL1):c.1337A>G (p.Asp446Gly) | Inborn genetic diseases [RCV002878535] | uncertain significance | 6 | 170283942 | 170283942 | Human | 1 | name |
| 156152218 | CV2318878 | single nucleotide variant | NM_005618.4(DLL1):c.1690G>A (p.Ala564Thr) | DLL1-related disorder [RCV004747250]|Inborn genetic diseases [RCV002954721]|not provided [RCV005099877] | likely benign|uncertain significance | 6 | 170283589 | 170283589 | Human | 2 | name , trait , alternate_id |
| 156256013 | CV2359135 | single nucleotide variant | NM_005618.4(DLL1):c.1504C>T (p.Arg502Cys) | Inborn genetic diseases [RCV003008648]|not provided [RCV003778538] | uncertain significance | 6 | 170283775 | 170283775 | Human | 1 | name |
| 11345022 | CV236846 | single nucleotide variant | NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu) | Alobar holoprosencephaly [RCV000223770]|not provided [RCV003556283] | uncertain significance | 6 | 170283037 | 170283037 | Human | 2 | name |
| 156434516 | CV2402977 | single nucleotide variant | NM_005618.4(DLL1):c.1491C>A (p.His497Gln) | not provided [RCV003126405] | uncertain significance | 6 | 170283788 | 170283788 | Human | | name |
| 243057496 | CV2412097 | single nucleotide variant | NM_005618.4(DLL1):c.1444G>A (p.Val482Ile) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146111]|not provided [RCV003720772] | uncertain significance | 6 | 170283835 | 170283835 | Human | 1 | name |
| 243057497 | CV2412098 | single nucleotide variant | NM_005618.4(DLL1):c.1508A>G (p.Tyr503Cys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146112] | uncertain significance | 6 | 170283771 | 170283771 | Human | 1 | name |
| 329361815 | CV2448047 | single nucleotide variant | NM_005618.4(DLL1):c.1708C>T (p.Arg570Trp) | Inborn genetic diseases [RCV003180619]|not provided [RCV005101265] | uncertain significance | 6 | 170283571 | 170283571 | Human | 1 | name |
| 329357611 | CV2453677 | single nucleotide variant | NM_005618.4(DLL1):c.1743C>G (p.Asp581Glu) | Inborn genetic diseases [RCV003203758] | uncertain significance | 6 | 170283536 | 170283536 | Human | 1 | name |
| 329388855 | CV2469529 | single nucleotide variant | NM_005618.4(DLL1):c.1007C>T (p.Pro336Leu) | Inborn genetic diseases [RCV003215938] | uncertain significance | 6 | 170285279 | 170285279 | Human | 1 | name |
| 329353437 | CV2477007 | single nucleotide variant | NM_005618.4(DLL1):c.1139G>A (p.Arg380Gln) | not provided [RCV003223239] | likely benign | 6 | 170285029 | 170285029 | Human | | name |
| 329350130 | CV2477281 | single nucleotide variant | NM_005618.4(DLL1):c.1397C>T (p.Ser466Phe) | not provided [RCV003221606] | uncertain significance | 6 | 170283882 | 170283882 | Human | | name |
| 329351504 | CV2508072 | single nucleotide variant | NM_005618.4(DLL1):c.2134G>T (p.Glu712Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003224775] | uncertain significance | 6 | 170283020 | 170283020 | Human | 1 | name |
| 329847643 | CV2524390 | single nucleotide variant | NM_005618.4(DLL1):c.1163G>A (p.Gly388Glu) | not provided [RCV003227282]|not specified [RCV005419604] | uncertain significance | 6 | 170285005 | 170285005 | Human | | name |
| 401733637 | CV2691361 | single nucleotide variant | NM_005618.4(DLL1):c.1888A>C (p.Asn630His) | Inborn genetic diseases [RCV003290535] | uncertain significance | 6 | 170283391 | 170283391 | Human | 1 | name |
| 401750398 | CV2696044 | single nucleotide variant | NM_005618.4(DLL1):c.1973A>G (p.His658Arg) | Inborn genetic diseases [RCV003253642] | uncertain significance | 6 | 170283306 | 170283306 | Human | 1 | name |
| 401760904 | CV2706141 | single nucleotide variant | NM_005618.4(DLL1):c.2000C>A (p.Pro667His) | Inborn genetic diseases [RCV003257379] | uncertain significance | 6 | 170283279 | 170283279 | Human | 1 | name |
| 401733957 | CV2713279 | single nucleotide variant | NM_005618.4(DLL1):c.1367G>A (p.Gly456Asp) | Inborn genetic diseases [RCV003272479] | uncertain significance | 6 | 170283912 | 170283912 | Human | 1 | name |
| 401724181 | CV2714742 | single nucleotide variant | NM_005618.4(DLL1):c.1577G>A (p.Gly526Asp) | Inborn genetic diseases [RCV003268550]|not provided [RCV003777076] | uncertain significance | 6 | 170283702 | 170283702 | Human | 1 | name |
| 401749730 | CV2719381 | single nucleotide variant | NM_005618.4(DLL1):c.1882G>A (p.Asp628Asn) | Inborn genetic diseases [RCV003294968] | uncertain significance | 6 | 170283397 | 170283397 | Human | 1 | name |
| 401829704 | CV2747526 | single nucleotide variant | NM_005618.4(DLL1):c.1475A>G (p.Asn492Ser) | not provided [RCV003328992] | uncertain significance | 6 | 170283804 | 170283804 | Human | | name |
| 401858503 | CV2750612 | single nucleotide variant | NM_005618.4(DLL1):c.1277C>T (p.Ala426Val) | not provided [RCV003334285] | uncertain significance | 6 | 170284002 | 170284002 | Human | | name |
| 401862841 | CV2779038 | single nucleotide variant | NM_005618.4(DLL1):c.2026G>C (p.Gly676Arg) | Inborn genetic diseases [RCV003343402] | uncertain significance | 6 | 170283253 | 170283253 | Human | 1 | name |
| 401906189 | CV2802691 | single nucleotide variant | NM_005618.4(DLL1):c.2125G>T (p.Val709Phe) | DLL1-related disorder [RCV003421132] | uncertain significance | 6 | 170283029 | 170283029 | Human | | name , trait , alternate_id |
| 401908605 | CV2828148 | single nucleotide variant | NM_005618.4(DLL1):c.1970C>T (p.Ala657Val) | not provided [RCV003423483] | likely benign|conflicting interpretations of pathogenicity | 6 | 170283309 | 170283309 | Human | | name |
| 401908607 | CV2828150 | single nucleotide variant | NM_005618.4(DLL1):c.1859A>G (p.Asp620Gly) | not provided [RCV003423484] | uncertain significance | 6 | 170283420 | 170283420 | Human | | name |
| 401921483 | CV2828152 | single nucleotide variant | NM_005618.4(DLL1):c.1177T>C (p.Cys393Arg) | not provided [RCV003432182] | uncertain significance | 6 | 170284991 | 170284991 | Human | | name |
| 404998088 | CV2849979 | single nucleotide variant | NM_005618.4(DLL1):c.2131T>C (p.Ser711Pro) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492988] | uncertain significance | 6 | 170283023 | 170283023 | Human | 1 | name |
| 404998093 | CV2849980 | single nucleotide variant | NM_005618.4(DLL1):c.1988C>T (p.Thr663Ile) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492989] | uncertain significance | 6 | 170283291 | 170283291 | Human | 1 | name |
| 402478887 | CV2849982 | single nucleotide variant | NM_005618.4(DLL1):c.1195G>A (p.Gly399Ser) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492991]|not provided [RCV003779240] | uncertain significance | 6 | 170284973 | 170284973 | Human | 1 | name |
| 402514443 | CV2855563 | single nucleotide variant | NM_005618.4(DLL1):c.1985A>G (p.Asp662Gly) | not provided [RCV003547286] | uncertain significance | 6 | 170283294 | 170283294 | Human | | name |
| 402517538 | CV2856922 | single nucleotide variant | NM_005618.4(DLL1):c.1307C>T (p.Ser436Leu) | not provided [RCV003575606] | uncertain significance | 6 | 170283972 | 170283972 | Human | | name |
| 402505369 | CV2884423 | single nucleotide variant | NM_005618.4(DLL1):c.1403C>T (p.Thr468Ile) | Inborn genetic diseases [RCV004614460]|not provided [RCV003546309] | benign|uncertain significance | 6 | 170283876 | 170283876 | Human | 1 | name |
| 405236622 | CV2884697 | single nucleotide variant | NM_005618.4(DLL1):c.1505G>A (p.Arg502His) | not provided [RCV003556530] | uncertain significance | 6 | 170283774 | 170283774 | Human | | name |
| 405173761 | CV2907828 | single nucleotide variant | NM_005618.4(DLL1):c.2143G>A (p.Asp715Asn) | not provided [RCV003563356] | uncertain significance | 6 | 170283011 | 170283011 | Human | | name |
| 402472820 | CV2908708 | single nucleotide variant | NM_005618.4(DLL1):c.1183G>A (p.Val395Met) | Inborn genetic diseases [RCV004980885]|not provided [RCV003570868] | likely benign|uncertain significance | 6 | 170284985 | 170284985 | Human | 1 | name |
| 405212034 | CV2917397 | single nucleotide variant | NM_005618.4(DLL1):c.1832A>G (p.Gln611Arg) | not provided [RCV003567282] | uncertain significance | 6 | 170283447 | 170283447 | Human | | name |
| 405202828 | CV2918563 | single nucleotide variant | NM_005618.4(DLL1):c.1615C>T (p.Gln539Ter) | not provided [RCV003565938] | pathogenic | 6 | 170283664 | 170283664 | Human | | name |
| 402486740 | CV2928417 | single nucleotide variant | NM_005618.4(DLL1):c.1795G>C (p.Glu599Gln) | not provided [RCV003572599] | uncertain significance | 6 | 170283484 | 170283484 | Human | | name |
| 405014343 | CV2930368 | single nucleotide variant | NM_005618.4(DLL1):c.1388A>G (p.Asn463Ser) | not provided [RCV003577009] | uncertain significance | 6 | 170283891 | 170283891 | Human | | name |
| 402497076 | CV2942834 | single nucleotide variant | NM_005618.4(DLL1):c.1721A>G (p.Gln574Arg) | not provided [RCV003661172] | uncertain significance | 6 | 170283558 | 170283558 | Human | | name |
| 405153210 | CV2950600 | single nucleotide variant | NM_005618.4(DLL1):c.1981C>A (p.Arg661Ser) | not provided [RCV003670198] | uncertain significance | 6 | 170283298 | 170283298 | Human | | name |
| 405121043 | CV2953931 | single nucleotide variant | NM_005618.4(DLL1):c.1900G>A (p.Ala634Thr) | not provided [RCV003667451] | likely benign | 6 | 170283379 | 170283379 | Human | | name |
| 405134754 | CV2957954 | single nucleotide variant | NM_005618.4(DLL1):c.1175G>T (p.Arg392Leu) | not provided [RCV003672716] | uncertain significance | 6 | 170284993 | 170284993 | Human | | name |
| 402518646 | CV3003478 | single nucleotide variant | NM_005618.4(DLL1):c.1998G>T (p.Gln666His) | not provided [RCV003716263] | uncertain significance | 6 | 170283281 | 170283281 | Human | | name |
| 405001790 | CV3005516 | single nucleotide variant | NM_005618.4(DLL1):c.1904G>A (p.Arg635His) | not provided [RCV003693182] | uncertain significance | 6 | 170283375 | 170283375 | Human | | name |
| 405172614 | CV3030264 | single nucleotide variant | NM_005618.4(DLL1):c.1316A>G (p.His439Arg) | not provided [RCV003704752] | uncertain significance | 6 | 170283963 | 170283963 | Human | | name |
| 405078788 | CV3031755 | single nucleotide variant | NM_005618.4(DLL1):c.2039C>A (p.Thr680Lys) | not provided [RCV003698682] | uncertain significance | 6 | 170283240 | 170283240 | Human | | name |
| 405253383 | CV3044444 | single nucleotide variant | NM_005618.4(DLL1):c.1969G>A (p.Ala657Thr) | Inborn genetic diseases [RCV004374005]|not provided [RCV003722505] | likely benign|uncertain significance | 6 | 170283310 | 170283310 | Human | 1 | name |
| 405080958 | CV3046651 | single nucleotide variant | NM_005618.4(DLL1):c.2148G>C (p.Glu716Asp) | Inborn genetic diseases [RCV004373978]|not provided [RCV003717132] | uncertain significance | 6 | 170283006 | 170283006 | Human | 1 | name |
| 405144298 | CV3056072 | single nucleotide variant | NM_005618.4(DLL1):c.1705G>A (p.Val569Ile) | not provided [RCV003725809] | uncertain significance | 6 | 170283574 | 170283574 | Human | | name |
| 405136145 | CV3130521 | single nucleotide variant | NM_005618.4(DLL1):c.1913C>T (p.Ala638Val) | not provided [RCV003838754] | uncertain significance | 6 | 170283366 | 170283366 | Human | | name |
| 404992628 | CV3132394 | single nucleotide variant | NM_005618.4(DLL1):c.1834A>G (p.Ile612Val) | not provided [RCV003827333] | uncertain significance | 6 | 170283445 | 170283445 | Human | | name |
| 405225113 | CV3142302 | single nucleotide variant | NM_005618.4(DLL1):c.1132G>A (p.Gly378Arg) | not provided [RCV003847841] | uncertain significance | 6 | 170285036 | 170285036 | Human | | name |
| 405170015 | CV3151592 | single nucleotide variant | NM_005618.4(DLL1):c.2051G>C (p.Gly684Ala) | not provided [RCV003857743] | uncertain significance | 6 | 170283103 | 170283103 | Human | | name |
| 405139635 | CV3155085 | single nucleotide variant | NM_005618.4(DLL1):c.1162G>A (p.Gly388Arg) | not provided [RCV003855323] | uncertain significance | 6 | 170285006 | 170285006 | Human | | name |
| 405215633 | CV3160664 | single nucleotide variant | NM_005618.4(DLL1):c.2044A>G (p.Arg682Gly) | not provided [RCV003862726] | uncertain significance | 6 | 170283235 | 170283235 | Human | | name |
| 405255570 | CV3172551 | single nucleotide variant | NM_005618.4(DLL1):c.1324G>A (p.Asp442Asn) | not provided [RCV003872489] | uncertain significance | 6 | 170283955 | 170283955 | Human | | name |
| 402525316 | CV3175969 | single nucleotide variant | NM_005618.4(DLL1):c.1156G>A (p.Asp386Asn) | not provided [RCV003880069] | uncertain significance | 6 | 170285012 | 170285012 | Human | | name |
| 402465167 | CV3177209 | single nucleotide variant | NM_005618.4(DLL1):c.1751G>C (p.Arg584Pro) | not provided [RCV003872840] | uncertain significance | 6 | 170283528 | 170283528 | Human | | name |
| 402509870 | CV3182209 | single nucleotide variant | NM_005618.4(DLL1):c.1270G>A (p.Gly424Ser) | not provided [RCV003878863] | uncertain significance | 6 | 170284009 | 170284009 | Human | | name |
| 404979245 | CV3183170 | single nucleotide variant | NM_005618.4(DLL1):c.1235C>T (p.Ser412Leu) | not provided [RCV003880193] | uncertain significance | 6 | 170284933 | 170284933 | Human | | name |
| 405258517 | CV3194020 | single nucleotide variant | NM_005618.4(DLL1):c.2006G>C (p.Gly669Ala) | DLL1-related disorder [RCV003893602] | uncertain significance | 6 | 170283273 | 170283273 | Human | | name , trait , alternate_id |
| 405701052 | CV3225928 | single nucleotide variant | NM_005618.4(DLL1):c.1492G>A (p.Glu498Lys) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003989367] | uncertain significance | 6 | 170283787 | 170283787 | Human | 1 | name |
| 405708099 | CV3240462 | single nucleotide variant | NM_005618.4(DLL1):c.1117G>A (p.Gly373Ser) | Inborn genetic diseases [RCV004376218] | likely benign | 6 | 170285051 | 170285051 | Human | 1 | name |
| 405708107 | CV3240463 | single nucleotide variant | NM_005618.4(DLL1):c.1624C>A (p.Pro542Thr) | Inborn genetic diseases [RCV004376219] | uncertain significance | 6 | 170283655 | 170283655 | Human | 1 | name |
| 405708114 | CV3240464 | single nucleotide variant | NM_005618.4(DLL1):c.1633T>A (p.Trp545Arg) | Inborn genetic diseases [RCV004376220]|not provided [RCV004723572] | uncertain significance | 6 | 170283646 | 170283646 | Human | 1 | name |
| 405708120 | CV3240465 | single nucleotide variant | NM_005618.4(DLL1):c.2150G>A (p.Cys717Tyr) | Inborn genetic diseases [RCV004376221] | uncertain significance | 6 | 170283004 | 170283004 | Human | 1 | name |
| 407425296 | CV3409435 | single nucleotide variant | NM_005618.4(DLL1):c.1762G>T (p.Glu588Ter) | not provided [RCV004585367] | pathogenic | 6 | 170283517 | 170283517 | Human | | name |
| 407429462 | CV3413754 | single nucleotide variant | NM_005618.4(DLL1):c.1077C>G (p.Tyr359Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004595163] | pathogenic | 6 | 170285091 | 170285091 | Human | 1 | name |
| 407475121 | CV3430678 | single nucleotide variant | NM_005618.4(DLL1):c.1877G>A (p.Ser626Asn) | Inborn genetic diseases [RCV004616609] | uncertain significance | 6 | 170283402 | 170283402 | Human | 1 | name |
| 407475124 | CV3430679 | single nucleotide variant | NM_005618.4(DLL1):c.1922A>G (p.Tyr641Cys) | Inborn genetic diseases [RCV004616610] | uncertain significance | 6 | 170283357 | 170283357 | Human | 1 | name |
| 408375170 | CV3510163 | single nucleotide variant | NM_005618.4(DLL1):c.1031C>T (p.Thr344Met) | DLL1-related disorder [RCV004747820] | uncertain significance | 6 | 170285255 | 170285255 | Human | | name , trait , alternate_id |
| 408391736 | CV3523362 | single nucleotide variant | NM_005618.4(DLL1):c.1189T>A (p.Tyr397Asn) | not provided [RCV004770735] | uncertain significance | 6 | 170284979 | 170284979 | Human | | name |
| 408380748 | CV3523646 | single nucleotide variant | NM_005618.4(DLL1):c.1228A>T (p.Ser410Cys) | not provided [RCV004766044] | uncertain significance | 6 | 170284940 | 170284940 | Human | | name |
| 408380874 | CV3523686 | single nucleotide variant | NM_005618.4(DLL1):c.1952A>T (p.Asp651Val) | not provided [RCV004766084] | uncertain significance | 6 | 170283327 | 170283327 | Human | | name |
| 408381648 | CV3523933 | single nucleotide variant | NM_005618.4(DLL1):c.1855G>T (p.Ala619Ser) | not provided [RCV004766331] | uncertain significance | 6 | 170283424 | 170283424 | Human | | name |
| 596944960 | CV3543614 | single nucleotide variant | NM_005618.4(DLL1):c.1793G>C (p.Arg598Pro) | not provided [RCV004801736] | uncertain significance | 6 | 170283486 | 170283486 | Human | | name |
| 596938330 | CV3550173 | single nucleotide variant | NM_005618.4(DLL1):c.1336G>A (p.Asp446Asn) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004813475] | uncertain significance | 6 | 170283943 | 170283943 | Human | 1 | name |
| 596945994 | CV3550319 | single nucleotide variant | NM_005618.4(DLL1):c.1534G>A (p.Gly512Arg) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004818858]|not provided [RCV005105241] | uncertain significance | 6 | 170283745 | 170283745 | Human | 1 | name |
| 597651144 | CV3551981 | single nucleotide variant | NM_005618.4(DLL1):c.2113C>A (p.Gln705Lys) | not provided [RCV004820694] | uncertain significance | 6 | 170283041 | 170283041 | Human | | name |
| 597658489 | CV3658859 | single nucleotide variant | NM_005618.4(DLL1):c.1770G>C (p.Met590Ile) | Inborn genetic diseases [RCV004976929] | uncertain significance | 6 | 170283509 | 170283509 | Human | 1 | name |
| 597658493 | CV3658861 | single nucleotide variant | NM_005618.4(DLL1):c.1288C>T (p.Arg430Cys) | Inborn genetic diseases [RCV004976930]|not provided [RCV005061706] | uncertain significance | 6 | 170283991 | 170283991 | Human | 1 | name |
| 597658496 | CV3658862 | single nucleotide variant | NM_005618.4(DLL1):c.1108T>C (p.Cys370Arg) | Inborn genetic diseases [RCV004976931] | uncertain significance | 6 | 170285060 | 170285060 | Human | 1 | name |
| 597846064 | CV3736412 | single nucleotide variant | NM_005618.4(DLL1):c.1574C>T (p.Pro525Leu) | not provided [RCV005059990] | uncertain significance | 6 | 170283705 | 170283705 | Human | | name |
| 597868029 | CV3742850 | single nucleotide variant | NM_005618.4(DLL1):c.2134G>A (p.Glu712Lys) | not provided [RCV005068273] | uncertain significance | 6 | 170283020 | 170283020 | Human | | name |
| 597850906 | CV3746955 | single nucleotide variant | NM_005618.4(DLL1):c.1570C>A (p.Pro524Thr) | not provided [RCV005060583] | uncertain significance | 6 | 170283709 | 170283709 | Human | | name |
| 597934747 | CV3750450 | single nucleotide variant | NM_005618.4(DLL1):c.1780G>A (p.Ala594Thr) | not provided [RCV005076375] | uncertain significance | 6 | 170283499 | 170283499 | Human | | name |
| 597858866 | CV3769683 | single nucleotide variant | NM_005618.4(DLL1):c.1567C>G (p.Leu523Val) | not provided [RCV005105726] | uncertain significance | 6 | 170283712 | 170283712 | Human | | name |
| 597847523 | CV3792811 | single nucleotide variant | NM_005618.4(DLL1):c.1152C>A (p.Ser384Arg) | not provided [RCV005144947] | uncertain significance | 6 | 170285016 | 170285016 | Human | | name |
| 597890846 | CV3805026 | single nucleotide variant | NM_005618.4(DLL1):c.1703G>A (p.Cys568Tyr) | not provided [RCV005151288] | uncertain significance | 6 | 170283576 | 170283576 | Human | | name |
| 597974091 | CV3821081 | single nucleotide variant | NM_005618.4(DLL1):c.2077G>T (p.Asp693Tyr) | not provided [RCV005168402] | uncertain significance | 6 | 170283077 | 170283077 | Human | | name |
| 597855765 | CV3821832 | single nucleotide variant | NM_005618.4(DLL1):c.2032C>G (p.Pro678Ala) | not provided [RCV005174310] | uncertain significance | 6 | 170283247 | 170283247 | Human | | name |
| 597862333 | CV3822646 | single nucleotide variant | NM_005618.4(DLL1):c.1693G>A (p.Val565Met) | not provided [RCV005175177] | uncertain significance | 6 | 170283586 | 170283586 | Human | | name |
| 597909594 | CV3830044 | single nucleotide variant | NM_005618.4(DLL1):c.2047G>A (p.Gly683Ser) | not provided [RCV005182613] | uncertain significance | 6 | 170283232 | 170283232 | Human | | name |
| 597896779 | CV3834645 | single nucleotide variant | NM_005618.4(DLL1):c.1342G>T (p.Ala448Ser) | not provided [RCV005180556] | uncertain significance | 6 | 170283937 | 170283937 | Human | | name |
| 597901746 | CV3845487 | single nucleotide variant | NM_005618.4(DLL1):c.1979A>G (p.Lys660Arg) | not provided [RCV005181297] | uncertain significance | 6 | 170283300 | 170283300 | Human | | name |
| 597964414 | CV3848049 | single nucleotide variant | NM_005618.4(DLL1):c.2074C>T (p.Pro692Ser) | not provided [RCV005193928] | uncertain significance | 6 | 170283080 | 170283080 | Human | | name |
| 597958118 | CV3849069 | single nucleotide variant | NM_005618.4(DLL1):c.1329C>G (p.Asn443Lys) | not provided [RCV005192070] | uncertain significance | 6 | 170283950 | 170283950 | Human | | name |
| 597872555 | CV3849518 | single nucleotide variant | NM_005618.4(DLL1):c.1370C>G (p.Thr457Ser) | not provided [RCV005197699] | uncertain significance | 6 | 170283909 | 170283909 | Human | | name |
| 597861268 | CV3850758 | single nucleotide variant | NM_005618.4(DLL1):c.1685G>C (p.Cys562Ser) | not provided [RCV005195891] | uncertain significance | 6 | 170283594 | 170283594 | Human | | name |
| 597928780 | CV3851837 | single nucleotide variant | NM_005618.4(DLL1):c.1756G>A (p.Glu586Lys) | not provided [RCV005206305] | uncertain significance | 6 | 170283523 | 170283523 | Human | | name |
| 597894761 | CV3857237 | single nucleotide variant | NM_005618.4(DLL1):c.1097G>A (p.Ser366Asn) | not provided [RCV005201101] | uncertain significance | 6 | 170285071 | 170285071 | Human | | name |
| 597921735 | CV3861811 | single nucleotide variant | NM_005618.4(DLL1):c.1781C>T (p.Ala594Val) | not provided [RCV005205187] | uncertain significance | 6 | 170283498 | 170283498 | Human | | name |
| 597935507 | CV3863701 | single nucleotide variant | NM_005618.4(DLL1):c.1279T>A (p.Tyr427Asn) | not provided [RCV005207514] | uncertain significance | 6 | 170284000 | 170284000 | Human | | name |
| 598126435 | CV3886270 | single nucleotide variant | NM_005618.4(DLL1):c.2092A>G (p.Thr698Ala) | not provided [RCV005242073] | uncertain significance | 6 | 170283062 | 170283062 | Human | | name |
| 598184449 | CV3960271 | single nucleotide variant | NM_005618.4(DLL1):c.1296G>C (p.Gln432His) | Inborn genetic diseases [RCV005333681] | uncertain significance | 6 | 170283983 | 170283983 | Human | 1 | name |
| 598184454 | CV3960272 | single nucleotide variant | NM_005618.4(DLL1):c.1418A>C (p.Tyr473Ser) | Inborn genetic diseases [RCV005333682] | uncertain significance | 6 | 170283861 | 170283861 | Human | 1 | name |
| 617153536 | CV4016627 | single nucleotide variant | NM_005618.4(DLL1):c.1720C>T (p.Gln574Ter) | not provided [RCV005415724] | pathogenic | 6 | 170283559 | 170283559 | Human | | name |
| 617151355 | CV4017828 | single nucleotide variant | NM_005618.4(DLL1):c.1651G>T (p.Gly551Trp) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005417616] | uncertain significance | 6 | 170283628 | 170283628 | Human | 1 | name |
| 15104330 | CV699459 | single nucleotide variant | NM_005618.4(DLL1):c.1564G>A (p.Glu522Lys) | not provided [RCV000959663] | benign | 6 | 170283715 | 170283715 | Human | | name |
| 15104335 | CV699461 | single nucleotide variant | NM_005618.4(DLL1):c.1330G>A (p.Val444Met) | not provided [RCV000959664] | benign | 6 | 170283949 | 170283949 | Human | | name |
| 15161816 | CV710344 | single nucleotide variant | NM_005618.4(DLL1):c.1342G>A (p.Ala448Thr) | DLL1-related disorder [RCV003943195]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005367645]|not provided [RCV000970156] | likely benign | 6 | 170283937 | 170283937 | Human | 1 | name , trait , alternate_id |
| 15199100 | CV765594 | single nucleotide variant | NM_005618.4(DLL1):c.1352C>T (p.Pro451Leu) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005359674]|not provided [RCV000935005] | benign | 6 | 170283927 | 170283927 | Human | 1 | name |
| 15173959 | CV789161 | single nucleotide variant | NM_005618.4(DLL1):c.1492G>T (p.Glu498Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984540] | pathogenic | 6 | 170283787 | 170283787 | Human | 1 | name |
| 15173961 | CV789163 | single nucleotide variant | NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter) | Inborn genetic diseases [RCV001267129]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984542]|not provided [RCV002067563] | pathogenic | 6 | 170283754 | 170283754 | Human | 2 | name |
| 405248162 | CV2982336 | duplication | NM_005618.4(DLL1):c.137_152dup (p.Pro52fs) | not provided [RCV003685908] | pathogenic | 6 | 170289710 | 170289711 | Human | | name |
| 150548234 | CV1310114 | deletion | NM_005618.4(DLL1):c.461_462del (p.Thr154fs) | not provided [RCV003238112] | pathogenic | 6 | 170288447 | 170288448 | Human | | name |
| 153348445 | CV1692482 | microsatellite | NM_005618.4(DLL1):c.386_387del (p.Thr129fs) | Neurodevelopmental delay [RCV002274335] | pathogenic | 6 | 170288754 | 170288755 | Human | | name |
| 13611639 | CV514533 | duplication | NM_005618.4(DLL1):c.543_570dup (p.Phe191fs) | not provided [RCV000627604] | pathogenic|uncertain significance | 6 | 170288338 | 170288339 | Human | | name |
| 155643845 | CV1708154 | deletion | NM_005618.4(DLL1):c.1253_1259del (p.Ala418fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002290142] | pathogenic | 6 | 170284020 | 170284026 | Human | 1 | name |
| 329954266 | CV2668663 | microsatellite | NM_005618.4(DLL1):c.1811_1814del (p.Val604fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003230254]|not provided [RCV004779517] | likely pathogenic | 6 | 170283465 | 170283468 | Human | | name |
| 329954260 | CV2669494 | microsatellite | NM_005618.4(DLL1):c.2066_2069del (p.Arg689fs) | not provided [RCV003232002] | uncertain significance | 6 | 170283085 | 170283088 | Human | | name |
| 15173962 | CV789164 | deletion | NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984543]|not provided [RCV001312098] | pathogenic|likely pathogenic | 6 | 170283265 | 170283266 | Human | 1 | name |
| 40886614 | CV973527 | deletion | NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) | Inborn genetic diseases [RCV001265783]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003759038]|not provided [RCV001384773] | pathogenic|likely pathogenic | 6 | 170283234 | 170283235 | Human | 2 | name |
| 156007689 | CV2175651 | indel | NM_005618.4(DLL1):c.28_29delinsTT (p.Ala10Leu) | not provided [RCV003035072] | uncertain significance | 6 | 170290111 | 170290112 | Human | | name |
| 596944612 | CV3543263 | indel | NM_005618.4(DLL1):c.635_636delinsAA (p.Cys212Ter) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004799135] | pathogenic | 6 | 170288273 | 170288274 | Human | | name |
| 151882188 | CV1402512 | deletion | NM_005618.4(DLL1):c.1877_1885del (p.Ser626_Asp628del) | not provided [RCV003327177] | likely benign|uncertain significance | 6 | 170283394 | 170283402 | Human | | name |
| 401914525 | CV2830732 | indel | NM_005618.4(DLL1):c.1791_1793delinsACTGA (p.Arg598fs) | not provided [RCV003442470] | likely pathogenic | 6 | 170283486 | 170283488 | Human | | name |
| 155643899 | CV1708211 | insertion | NM_005618.4(DLL1):c.1610_1611insCTA (p.Glu537delinsAspTer) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002290200] | uncertain significance | 6 | 170283668 | 170283669 | Human | 1 | name |
| 11345025 | CV236847 | deletion | NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal) | DLL1-related disorder [RCV003919898]|Holoprosencephaly sequence [RCV000223908]|not provided [RCV000970783] | benign|likely benign|uncertain significance | 6 | 170283475 | 170283477 | Human | 4 | name , trait , alternate_id |
| 405213120 | CV3169853 | indel | NM_005618.4(DLL1):c.1873_1882delinsA (p.His625_Asp628delinsAsn) | not provided [RCV003862455] | uncertain significance | 6 | 170283397 | 170283406 | Human | | name |
| 405122287 | CV3004256 | duplication | NM_005618.4(DLL1):c.800_823dup (p.Cys274_Asn275insThrCysGlnGlnProTrpGlnCys) | not provided [RCV003724020] | uncertain significance | 6 | 170285607 | 170285608 | Human | | name |