| 150424198 | CV1184961 | single nucleotide variant | NM_019074.4(DLL4):c.-105C>G | not provided [RCV001556348] | likely benign | 15 | 40929564 | 40929564 | Human | | name |
| 150419334 | CV1198602 | single nucleotide variant | NM_019074.4(DLL4):c.*304C>T | not provided [RCV001577129] | likely benign | 15 | 40938338 | 40938338 | Human | | name |
| 127312548 | CV1157444 | single nucleotide variant | NM_019074.4(DLL4):c.67-20C>T | not provided [RCV001518987] | benign|likely benign | 15 | 40929827 | 40929827 | Human | | name |
| 150432696 | CV1200757 | single nucleotide variant | NM_019074.4(DLL4):c.66+55C>T | not provided [RCV001581481] | likely benign | 15 | 40929789 | 40929789 | Human | | name |
| 150539179 | CV1298983 | single nucleotide variant | NM_019074.4(DLL4):c.336+6C>T | not provided [RCV001765777] | uncertain significance | 15 | 40930122 | 40930122 | Human | | name |
| 151840601 | CV1423612 | single nucleotide variant | NM_019074.4(DLL4):c.67-10T>C | not provided [RCV001977641] | likely benign|uncertain significance | 15 | 40929837 | 40929837 | Human | | name |
| 152145980 | CV1543354 | single nucleotide variant | NM_019074.4(DLL4):c.395-6C>T | not provided [RCV002178728] | likely benign | 15 | 40931497 | 40931497 | Human | | name |
| 152099216 | CV1611853 | deletion | NM_019074.4(DLL4):c.337-6del | not provided [RCV002172877] | likely benign | 15 | 40930617 | 40930617 | Human | | name |
| 156024137 | CV2055713 | single nucleotide variant | NM_019074.4(DLL4):c.720-9G>C | not provided [RCV002820760] | likely benign | 15 | 40932308 | 40932308 | Human | | name |
| 405223129 | CV2908387 | single nucleotide variant | NM_019074.4(DLL4):c.395-5C>G | not provided [RCV003568627] | uncertain significance | 15 | 40931498 | 40931498 | Human | | name |
| 402478601 | CV3033018 | single nucleotide variant | NM_019074.4(DLL4):c.336+8C>A | not provided [RCV003712583] | likely benign | 15 | 40930124 | 40930124 | Human | | name |
| 405259176 | CV3194539 | single nucleotide variant | NM_019074.4(DLL4):c.658+3A>G | DLL4-related disorder [RCV003893934] | uncertain significance | 15 | 40931769 | 40931769 | Human | | name , trait , alternate_id |
| 597861673 | CV3798119 | single nucleotide variant | NM_019074.4(DLL4):c.720-4C>G | not provided [RCV005135899] | likely benign | 15 | 40932313 | 40932313 | Human | | name |
| 150504521 | CV1255255 | single nucleotide variant | NM_019074.4(DLL4):c.659-77C>T | not provided [RCV001677702] | benign | 15 | 40932094 | 40932094 | Human | | name |
| 150463040 | CV1273096 | single nucleotide variant | NM_019074.4(DLL4):c.659-89G>T | not provided [RCV001693853] | benign | 15 | 40932082 | 40932082 | Human | | name |
| 152081012 | CV1554584 | single nucleotide variant | NM_019074.4(DLL4):c.395-19C>T | not provided [RCV002193020] | likely benign | 15 | 40931484 | 40931484 | Human | | name |
| 152090395 | CV1563267 | single nucleotide variant | NM_019074.4(DLL4):c.336+17C>T | not provided [RCV002113998] | benign | 15 | 40930133 | 40930133 | Human | | name |
| 152106388 | CV1572697 | single nucleotide variant | NM_019074.4(DLL4):c.658+10C>G | not provided [RCV002152453] | likely benign | 15 | 40931776 | 40931776 | Human | | name |
| 152033044 | CV1614953 | single nucleotide variant | NM_019074.4(DLL4):c.395-18G>C | not provided [RCV002086699] | benign | 15 | 40931485 | 40931485 | Human | | name |
| 152115214 | CV1659768 | single nucleotide variant | NM_019074.4(DLL4):c.337-20C>T | not provided [RCV002080797] | benign | 15 | 40930605 | 40930605 | Human | | name |
| 156264868 | CV1977701 | single nucleotide variant | NM_019074.4(DLL4):c.1241-8C>A | not provided [RCV002597901] | likely benign | 15 | 40936220 | 40936220 | Human | | name |
| 156241860 | CV1981364 | single nucleotide variant | NM_019074.4(DLL4):c.720-16C>G | not provided [RCV002645601] | likely benign | 15 | 40932301 | 40932301 | Human | | name |
| 156242476 | CV2173451 | single nucleotide variant | NM_019074.4(DLL4):c.659-20G>C | not provided [RCV003043492] | likely benign | 15 | 40932151 | 40932151 | Human | | name |
| 402483128 | CV2937555 | single nucleotide variant | NM_019074.4(DLL4):c.851-10G>T | not provided [RCV003659826] | likely benign | 15 | 40934538 | 40934538 | Human | | name |
| 405118859 | CV2957436 | single nucleotide variant | NM_019074.4(DLL4):c.851-10G>A | not provided [RCV003667222] | likely benign | 15 | 40934538 | 40934538 | Human | | name |
| 405251399 | CV3049954 | single nucleotide variant | NM_019074.4(DLL4):c.1943+3G>A | not provided [RCV003721893] | uncertain significance | 15 | 40936933 | 40936933 | Human | | name |
| 407426687 | CV3411487 | single nucleotide variant | NM_019074.4(DLL4):c.1944-1G>C | not provided [RCV004590665] | likely pathogenic | 15 | 40937417 | 40937417 | Human | | name |
| 597903698 | CV3738207 | single nucleotide variant | NM_019074.4(DLL4):c.719+14A>G | not provided [RCV005072629] | likely benign | 15 | 40932245 | 40932245 | Human | | name |
| 597835916 | CV3739687 | single nucleotide variant | NM_019074.4(DLL4):c.336+11C>T | not provided [RCV005063907] | likely benign | 15 | 40930127 | 40930127 | Human | | name |
| 597872963 | CV3803274 | single nucleotide variant | NM_019074.4(DLL4):c.850+10G>C | not provided [RCV005147871] | likely benign | 15 | 40932457 | 40932457 | Human | | name |
| 13704940 | CV514253 | single nucleotide variant | NM_019074.4(DLL4):c.1240+5G>C | Adams-Oliver syndrome 6 [RCV000662260] | uncertain significance | 15 | 40935122 | 40935122 | Human | 1 | name |
| 15122973 | CV744870 | single nucleotide variant | NM_019074.4(DLL4):c.720-10T>C | not provided [RCV000896330] | benign | 15 | 40932307 | 40932307 | Human | | name |
| 15117649 | CV760334 | single nucleotide variant | NM_019074.4(DLL4):c.337-10C>T | not provided [RCV000917832] | likely benign | 15 | 40930615 | 40930615 | Human | | name |
| 150408057 | CV1177858 | single nucleotide variant | NM_019074.4(DLL4):c.1944-86C>A | not provided [RCV001545769] | likely benign | 15 | 40937332 | 40937332 | Human | | name |
| 150514240 | CV1210930 | duplication | NM_019074.4(DLL4):c.851-209dup | not provided [RCV001598973] | benign | 15 | 40934323 | 40934324 | Human | | name |
| 150474349 | CV1217787 | single nucleotide variant | NM_019074.4(DLL4):c.1021-46C>T | not provided [RCV001615798] | benign | 15 | 40934852 | 40934852 | Human | | name |
| 150455460 | CV1259870 | single nucleotide variant | NM_019074.4(DLL4):c.851-307G>A | not provided [RCV001681349] | benign | 15 | 40934241 | 40934241 | Human | | name |
| 150462071 | CV1276034 | single nucleotide variant | NM_019074.4(DLL4):c.658+160G>A | not provided [RCV001709973] | benign | 15 | 40931926 | 40931926 | Human | | name |
| 150484739 | CV1280550 | single nucleotide variant | NM_019074.4(DLL4):c.336+173G>C | not provided [RCV001715443] | benign | 15 | 40930289 | 40930289 | Human | 3 | name |
| 151236095 | CV1319526 | deletion | NM_019074.4(DLL4):c.851-209del | not provided [RCV001797471] | likely benign | 15 | 40934324 | 40934324 | Human | | name |
| 152162494 | CV1535060 | single nucleotide variant | NM_019074.4(DLL4):c.1943+18G>T | not provided [RCV002141159] | likely benign | 15 | 40936948 | 40936948 | Human | | name |
| 152118474 | CV1535061 | single nucleotide variant | NM_019074.4(DLL4):c.2052+18C>T | not provided [RCV002153950] | likely benign | 15 | 40937544 | 40937544 | Human | | name |
| 152031008 | CV1632399 | single nucleotide variant | NM_019074.4(DLL4):c.1020+14C>T | not provided [RCV002124458] | likely benign | 15 | 40934731 | 40934731 | Human | | name |
| 156294606 | CV1958683 | single nucleotide variant | NM_019074.4(DLL4):c.1944-17G>A | not provided [RCV002577963] | likely benign | 15 | 40937401 | 40937401 | Human | | name |
| 156332750 | CV1966635 | single nucleotide variant | NM_019074.4(DLL4):c.2053-13C>T | not provided [RCV002600884] | likely benign | 15 | 40938016 | 40938016 | Human | | name |
| 156215614 | CV1983718 | single nucleotide variant | NM_019074.4(DLL4):c.2052+15C>T | not provided [RCV002626250] | likely benign | 15 | 40937541 | 40937541 | Human | | name |
| 156087352 | CV2034162 | single nucleotide variant | NM_019074.4(DLL4):c.1020+15A>C | not provided [RCV002760821] | likely benign | 15 | 40934732 | 40934732 | Human | | name |
| 405139422 | CV3125542 | single nucleotide variant | NM_019074.4(DLL4):c.1944-12G>A | not provided [RCV003816649] | likely benign | 15 | 40937406 | 40937406 | Human | | name |
| 597929893 | CV3851238 | single nucleotide variant | NM_019074.4(DLL4):c.1020+14C>G | not provided [RCV005204206] | likely benign | 15 | 40934731 | 40934731 | Human | | name |
| 150415001 | CV1177859 | single nucleotide variant | NM_019074.4(DLL4):c.2053-170G>A | not provided [RCV001548383] | likely benign | 15 | 40937859 | 40937859 | Human | | name |
| 156198539 | CV2182685 | single nucleotide variant | NM_019074.4(DLL4):c.12G>A (p.Ala4=) | not provided [RCV003024371] | likely benign | 15 | 40929680 | 40929680 | Human | | name |
| 405136189 | CV3052212 | single nucleotide variant | NM_019074.4(DLL4):c.18G>A (p.Arg6=) | not provided [RCV003725257] | likely benign | 15 | 40929686 | 40929686 | Human | | name |
| 151798095 | CV1352697 | single nucleotide variant | NM_019074.4(DLL4):c.5C>T (p.Ala2Val) | not provided [RCV001877125] | uncertain significance | 15 | 40929673 | 40929673 | Human | | name |
| 152158525 | CV1630774 | single nucleotide variant | NM_019074.4(DLL4):c.39A>T (p.Leu13=) | DLL4-related disorder [RCV003958728]|not provided [RCV002122785] | benign|likely benign | 15 | 40929707 | 40929707 | Human | 1 | name , trait , alternate_id |
| 617153165 | CV4021140 | single nucleotide variant | NM_019074.4(DLL4):c.69C>A (p.Arg23=) | not provided [RCV005428893] | likely benign | 15 | 40929849 | 40929849 | Human | | name |
| 156255285 | CV2060630 | single nucleotide variant | NM_019074.4(DLL4):c.204C>A (p.Val68=) | not provided [RCV002791831] | likely benign | 15 | 40929984 | 40929984 | Human | | name |
| 155994439 | CV2156162 | single nucleotide variant | NM_019074.4(DLL4):c.297G>C (p.Gly99=) | not provided [RCV002996720] | likely benign | 15 | 40930077 | 40930077 | Human | | name |
| 15122192 | CV739592 | single nucleotide variant | NM_019074.4(DLL4):c.156C>T (p.Pro52=) | not provided [RCV000896199] | likely benign | 15 | 40929936 | 40929936 | Human | | name |
| 127238547 | CV1102892 | single nucleotide variant | NM_019074.4(DLL4):c.469T>C (p.Leu157=) | not provided [RCV001422930] | likely benign | 15 | 40931577 | 40931577 | Human | | name |
| 151802294 | CV1354331 | single nucleotide variant | NM_019074.4(DLL4):c.55C>T (p.Leu19Phe) | Inborn genetic diseases [RCV004611902]|not provided [RCV001867233] | likely benign|uncertain significance | 15 | 40929723 | 40929723 | Human | 1 | name |
| 151873933 | CV1511374 | single nucleotide variant | NM_019074.4(DLL4):c.59G>T (p.Trp20Leu) | not provided [RCV001960803] | uncertain significance | 15 | 40929727 | 40929727 | Human | | name |
| 152099894 | CV1578659 | single nucleotide variant | NM_019074.4(DLL4):c.969G>A (p.Leu323=) | not provided [RCV002151680] | likely benign | 15 | 40934666 | 40934666 | Human | | name |
| 152070084 | CV1601014 | single nucleotide variant | NM_019074.4(DLL4):c.68G>A (p.Arg23His) | Inborn genetic diseases [RCV004612134]|not provided [RCV002091466] | likely benign | 15 | 40929848 | 40929848 | Human | 1 | name |
| 152164046 | CV1619600 | single nucleotide variant | NM_019074.4(DLL4):c.522C>T (p.Ile174=) | not provided [RCV002181458] | likely benign | 15 | 40931630 | 40931630 | Human | | name |
| 152140195 | CV1625098 | single nucleotide variant | NM_019074.4(DLL4):c.708A>C (p.Pro236=) | not provided [RCV002219267] | likely benign | 15 | 40932220 | 40932220 | Human | | name |
| 152027118 | CV1636029 | single nucleotide variant | NM_019074.4(DLL4):c.891G>T (p.Gly297=) | not provided [RCV002085026] | likely benign | 15 | 40934588 | 40934588 | Human | | name |
| 156401865 | CV1908036 | single nucleotide variant | NM_019074.4(DLL4):c.585C>T (p.Phe195=) | not provided [RCV002584966] | likely benign | 15 | 40931693 | 40931693 | Human | | name |
| 156407449 | CV1918123 | single nucleotide variant | NM_019074.4(DLL4):c.315G>A (p.Leu105=) | not provided [RCV002606897] | likely benign | 15 | 40930095 | 40930095 | Human | | name |
| 156125388 | CV1930461 | single nucleotide variant | NM_019074.4(DLL4):c.978C>T (p.Ser326=) | not provided [RCV002640492] | uncertain significance | 15 | 40934675 | 40934675 | Human | | name |
| 156442228 | CV1938140 | single nucleotide variant | NM_019074.4(DLL4):c.441C>G (p.Gly147=) | not provided [RCV003112567] | likely benign | 15 | 40931549 | 40931549 | Human | | name |
| 156333894 | CV2000822 | single nucleotide variant | NM_019074.4(DLL4):c.375A>G (p.Pro125=) | not provided [RCV002649971] | likely benign | 15 | 40930663 | 40930663 | Human | | name |
| 156028308 | CV2004743 | single nucleotide variant | NM_019074.4(DLL4):c.576T>C (p.Asn192=) | not provided [RCV002658548] | likely benign | 15 | 40931684 | 40931684 | Human | | name |
| 156105282 | CV2096385 | single nucleotide variant | NM_019074.4(DLL4):c.753C>T (p.Asn251=) | not provided [RCV002913559] | likely benign | 15 | 40932350 | 40932350 | Human | | name |
| 156335020 | CV2191773 | single nucleotide variant | NM_019074.4(DLL4):c.35C>T (p.Ala12Val) | not provided [RCV003063914] | uncertain significance | 15 | 40929703 | 40929703 | Human | | name |
| 405240921 | CV3004617 | single nucleotide variant | NM_019074.4(DLL4):c.507C>T (p.Tyr169=) | not provided [RCV003719187] | uncertain significance | 15 | 40931615 | 40931615 | Human | | name |
| 597874405 | CV3747245 | single nucleotide variant | NM_019074.4(DLL4):c.393A>G (p.Pro131=) | not provided [RCV005068929] | uncertain significance | 15 | 40930681 | 40930681 | Human | | name |
| 15178506 | CV726036 | single nucleotide variant | NM_019074.4(DLL4):c.672G>A (p.Ser224=) | DLL4-related disorder [RCV003910462]|not provided [RCV000885077] | benign|likely benign | 15 | 40932184 | 40932184 | Human | 1 | name , trait , alternate_id |
| 15177273 | CV739593 | single nucleotide variant | NM_019074.4(DLL4):c.369C>T (p.His123=) | not provided [RCV000906613] | benign|likely benign | 15 | 40930657 | 40930657 | Human | | name |
| 15189193 | CV739594 | single nucleotide variant | NM_019074.4(DLL4):c.516G>C (p.Arg172=) | DLL4-related disorder [RCV003958298]|not provided [RCV000909580] | benign|likely benign | 15 | 40931624 | 40931624 | Human | 1 | name , trait , alternate_id |
| 15133567 | CV739595 | single nucleotide variant | NM_019074.4(DLL4):c.762C>T (p.Ile254=) | not provided [RCV000898153] | benign | 15 | 40932359 | 40932359 | Human | | name |
| 15142320 | CV739596 | single nucleotide variant | NM_019074.4(DLL4):c.897G>A (p.Thr299=) | DLL4-related disorder [RCV003910721]|not provided [RCV000899654] | benign|likely benign | 15 | 40934594 | 40934594 | Human | 1 | name , trait , alternate_id |
| 15202886 | CV754419 | single nucleotide variant | NM_019074.4(DLL4):c.499C>T (p.Leu167=) | not provided [RCV000913596] | likely benign | 15 | 40931607 | 40931607 | Human | | name |
| 15135727 | CV754420 | single nucleotide variant | NM_019074.4(DLL4):c.534C>T (p.Asn178=) | not provided [RCV000920898] | likely benign | 15 | 40931642 | 40931642 | Human | | name |
| 15125827 | CV754421 | single nucleotide variant | NM_019074.4(DLL4):c.582C>T (p.His194=) | not provided [RCV000919224] | likely benign | 15 | 40931690 | 40931690 | Human | | name |
| 127292311 | CV980832 | single nucleotide variant | NM_019074.4(DLL4):c.82G>C (p.Gly28Arg) | Adams-Oliver syndrome 6 [RCV001526864] | likely pathogenic | 15 | 40929862 | 40929862 | Human | 1 | name |
| 150406852 | CV1191665 | single nucleotide variant | NM_019074.4(DLL4):c.1239C>T (p.Asn413=) | not provided [RCV001564818] | benign|likely benign | 15 | 40935116 | 40935116 | Human | | name |
| 152048051 | CV1519852 | single nucleotide variant | NM_019074.4(DLL4):c.1413T>C (p.Ser471=) | not provided [RCV002145314] | likely benign | 15 | 40936400 | 40936400 | Human | | name |
| 152075585 | CV1551217 | single nucleotide variant | NM_019074.4(DLL4):c.1209G>A (p.Val403=) | not provided [RCV002192362] | likely benign | 15 | 40935086 | 40935086 | Human | | name |
| 152122961 | CV1587168 | single nucleotide variant | NM_019074.4(DLL4):c.1353C>T (p.His451=) | not provided [RCV002135947] | likely benign | 15 | 40936340 | 40936340 | Human | | name |
| 152062605 | CV1594532 | single nucleotide variant | NM_019074.4(DLL4):c.1326C>T (p.Ser442=) | not provided [RCV002110302] | likely benign | 15 | 40936313 | 40936313 | Human | | name |
| 152062647 | CV1611951 | single nucleotide variant | NM_019074.4(DLL4):c.1431G>A (p.Val477=) | not provided [RCV002128529] | benign | 15 | 40936418 | 40936418 | Human | | name |
| 152124579 | CV1646026 | single nucleotide variant | NM_019074.4(DLL4):c.1971G>A (p.Ala657=) | not provided [RCV002217225] | likely benign | 15 | 40937445 | 40937445 | Human | | name |
| 155642107 | CV1706156 | single nucleotide variant | NM_019074.4(DLL4):c.200C>T (p.Ala67Val) | not provided [RCV002287018] | uncertain significance | 15 | 40929980 | 40929980 | Human | | name |
| 156323572 | CV1882746 | single nucleotide variant | NM_019074.4(DLL4):c.1497C>T (p.Leu499=) | not provided [RCV003089333] | benign | 15 | 40936484 | 40936484 | Human | | name |
| 156376219 | CV1895980 | single nucleotide variant | NM_019074.4(DLL4):c.1806G>A (p.Lys602=) | not provided [RCV003092897] | likely benign | 15 | 40936793 | 40936793 | Human | | name |
| 156210371 | CV1909711 | single nucleotide variant | NM_019074.4(DLL4):c.1134G>C (p.Arg378=) | not provided [RCV002596039] | likely benign | 15 | 40935011 | 40935011 | Human | | name |
| 156210398 | CV1909712 | single nucleotide variant | NM_019074.4(DLL4):c.1320C>T (p.His440=) | DLL4-related disorder [RCV003963681]|not provided [RCV002596040] | likely benign | 15 | 40936307 | 40936307 | Human | 1 | name , trait , alternate_id |
| 156049949 | CV1914995 | single nucleotide variant | NM_019074.4(DLL4):c.1683C>T (p.Asp561=) | not provided [RCV002620569] | likely benign | 15 | 40936670 | 40936670 | Human | | name |
| 156409106 | CV1922185 | single nucleotide variant | NM_019074.4(DLL4):c.1317C>T (p.Leu439=) | not provided [RCV002607456] | likely benign | 15 | 40936304 | 40936304 | Human | | name |
| 155924147 | CV1940715 | single nucleotide variant | NM_019074.4(DLL4):c.205G>T (p.Val69Phe) | Inborn genetic diseases [RCV002969807]|not provided [RCV003108203] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 40929985 | 40929985 | Human | 1 | name |
| 156442637 | CV1948736 | single nucleotide variant | NM_019074.4(DLL4):c.1197C>T (p.Cys399=) | not provided [RCV003112984] | likely benign | 15 | 40935074 | 40935074 | Human | | name |
| 156326768 | CV1956227 | single nucleotide variant | NM_019074.4(DLL4):c.1416C>G (p.Gly472=) | not provided [RCV002579769] | likely benign | 15 | 40936403 | 40936403 | Human | | name |
| 156043629 | CV1977942 | single nucleotide variant | NM_019074.4(DLL4):c.2049G>A (p.Thr683=) | not provided [RCV002590420] | likely benign | 15 | 40937523 | 40937523 | Human | | name |
| 156164969 | CV1986176 | single nucleotide variant | NM_019074.4(DLL4):c.1458G>A (p.Ser486=) | not provided [RCV002642542] | likely benign | 15 | 40936445 | 40936445 | Human | | name |
| 155913436 | CV1990272 | single nucleotide variant | NM_019074.4(DLL4):c.1734C>T (p.Asn578=) | not provided [RCV002614152] | likely benign | 15 | 40936721 | 40936721 | Human | | name |
| 156288478 | CV1998006 | single nucleotide variant | NM_019074.4(DLL4):c.1984A>C (p.Arg662=) | not provided [RCV002647099] | likely benign | 15 | 40937458 | 40937458 | Human | | name |
| 156290439 | CV2009657 | single nucleotide variant | NM_019074.4(DLL4):c.1431G>T (p.Val477=) | not provided [RCV002715630] | likely benign | 15 | 40936418 | 40936418 | Human | | name |
| 156126391 | CV2031240 | single nucleotide variant | NM_019074.4(DLL4):c.1707C>T (p.Asn569=) | not provided [RCV002740398] | likely benign | 15 | 40936694 | 40936694 | Human | | name |
| 156119136 | CV2039272 | single nucleotide variant | NM_019074.4(DLL4):c.1572G>A (p.Pro524=) | not provided [RCV002800153] | benign | 15 | 40936559 | 40936559 | Human | | name |
| 156017531 | CV2061719 | single nucleotide variant | NM_019074.4(DLL4):c.1668G>T (p.Arg556=) | not provided [RCV002820452] | likely benign | 15 | 40936655 | 40936655 | Human | | name |
| 156112944 | CV2117394 | single nucleotide variant | NM_019074.4(DLL4):c.1836A>T (p.Thr612=) | not provided [RCV002953193] | likely benign | 15 | 40936823 | 40936823 | Human | | name |
| 155978099 | CV2147699 | deletion | NM_019074.4(DLL4):c.353del (p.Ile118fs) | not provided [RCV003033748] | pathogenic | 15 | 40930641 | 40930641 | Human | | name |
| 156150837 | CV2394681 | single nucleotide variant | NM_019074.4(DLL4):c.293G>C (p.Gly98Ala) | Inborn genetic diseases [RCV002764104] | uncertain significance | 15 | 40930073 | 40930073 | Human | 1 | name |
| 405188842 | CV2917971 | single nucleotide variant | NM_019074.4(DLL4):c.1281C>T (p.Arg427=) | not provided [RCV003564716] | likely benign | 15 | 40936268 | 40936268 | Human | | name |
| 405145858 | CV2949981 | single nucleotide variant | NM_019074.4(DLL4):c.233C>A (p.Thr78Asn) | not provided [RCV003669691] | uncertain significance | 15 | 40930013 | 40930013 | Human | | name |
| 405088027 | CV3044494 | single nucleotide variant | NM_019074.4(DLL4):c.1560C>T (p.Pro520=) | not provided [RCV003717614] | likely benign | 15 | 40936547 | 40936547 | Human | | name |
| 405168459 | CV3122324 | single nucleotide variant | NM_019074.4(DLL4):c.1950G>A (p.Lys650=) | not provided [RCV003818913] | likely benign | 15 | 40937424 | 40937424 | Human | | name |
| 405060099 | CV3148248 | single nucleotide variant | NM_019074.4(DLL4):c.1635G>A (p.Leu545=) | not provided [RCV003850204] | likely benign | 15 | 40936622 | 40936622 | Human | | name |
| 405063507 | CV3148500 | single nucleotide variant | NM_019074.4(DLL4):c.1932G>A (p.Leu644=) | not provided [RCV003850456] | likely benign | 15 | 40936919 | 40936919 | Human | | name |
| 405289441 | CV3218222 | single nucleotide variant | NM_019074.4(DLL4):c.1254G>A (p.Leu418=) | DLL4-related disorder [RCV003983624] | likely benign | 15 | 40936241 | 40936241 | Human | | name , trait , alternate_id |
| 405745158 | CV3226235 | single nucleotide variant | NM_019074.4(DLL4):c.187A>G (p.Lys63Glu) | Adams-Oliver syndrome 6 [RCV003991226] | likely pathogenic | 15 | 40929967 | 40929967 | Human | 1 | name |
| 408379242 | CV3516508 | single nucleotide variant | NM_019074.4(DLL4):c.1314A>G (p.Glu438=) | DLL4-related disorder [RCV004752607] | likely benign | 15 | 40936301 | 40936301 | Human | | name , trait , alternate_id |
| 596947804 | CV3547388 | single nucleotide variant | NM_019074.4(DLL4):c.1716G>A (p.Ser572=) | not provided [RCV004811692] | likely benign | 15 | 40936703 | 40936703 | Human | | name |
| 597862507 | CV3745089 | single nucleotide variant | NM_019074.4(DLL4):c.1506C>T (p.Asp502=) | not provided [RCV005067445] | likely benign | 15 | 40936493 | 40936493 | Human | | name |
| 597946942 | CV3755676 | single nucleotide variant | NM_019074.4(DLL4):c.1404C>T (p.Ala468=) | not provided [RCV005078686] | likely benign | 15 | 40936391 | 40936391 | Human | | name |
| 597847895 | CV3775972 | single nucleotide variant | NM_019074.4(DLL4):c.1077T>C (p.Cys359=) | not provided [RCV005123499] | likely benign | 15 | 40934954 | 40934954 | Human | | name |
| 597875191 | CV3799734 | single nucleotide variant | NM_019074.4(DLL4):c.1933C>A (p.Arg645=) | not provided [RCV005150401] | likely benign | 15 | 40936920 | 40936920 | Human | | name |
| 597886339 | CV3807298 | single nucleotide variant | NM_019074.4(DLL4):c.1122G>C (p.Gly374=) | not provided [RCV005159933] | likely benign | 15 | 40934999 | 40934999 | Human | | name |
| 597912070 | CV3852762 | single nucleotide variant | NM_019074.4(DLL4):c.1599G>A (p.Ser533=) | not provided [RCV005187162] | likely benign | 15 | 40936586 | 40936586 | Human | | name |
| 15167004 | CV714416 | single nucleotide variant | NM_019074.4(DLL4):c.1074T>C (p.His358=) | not provided [RCV000971304] | benign | 15 | 40934951 | 40934951 | Human | | name |
| 15199130 | CV726038 | single nucleotide variant | NM_019074.4(DLL4):c.1005T>C (p.Asn335=) | not provided [RCV000890548] | likely benign | 15 | 40934702 | 40934702 | Human | | name |
| 15132276 | CV739597 | single nucleotide variant | NM_019074.4(DLL4):c.1329C>T (p.Asp443=) | not provided [RCV000897928] | likely benign | 15 | 40936316 | 40936316 | Human | | name |
| 15115307 | CV754422 | single nucleotide variant | NM_019074.4(DLL4):c.1158T>C (p.Tyr386=) | not provided [RCV000917432] | likely benign | 15 | 40935035 | 40935035 | Human | | name |
| 15097542 | CV754423 | single nucleotide variant | NM_019074.4(DLL4):c.1347C>T (p.Cys449=) | not provided [RCV000914032] | likely benign | 15 | 40936334 | 40936334 | Human | | name |
| 15202430 | CV754424 | single nucleotide variant | NM_019074.4(DLL4):c.1386C>T (p.Leu462=) | DLL4-related disorder [RCV003970393]|not provided [RCV000913425] | likely benign | 15 | 40936373 | 40936373 | Human | 1 | name , trait , alternate_id |
| 15198523 | CV754425 | single nucleotide variant | NM_019074.4(DLL4):c.2034A>G (p.Glu678=) | not provided [RCV000912283] | likely benign | 15 | 40937508 | 40937508 | Human | | name |
| 15106266 | CV784911 | single nucleotide variant | NM_019074.4(DLL4):c.1728G>A (p.Lys576=) | not provided [RCV000976599] | likely benign | 15 | 40936715 | 40936715 | Human | | name |
| 126910080 | CV1038326 | single nucleotide variant | NM_019074.4(DLL4):c.875C>T (p.Ser292Phe) | not provided [RCV001354348] | uncertain significance | 15 | 40934572 | 40934572 | Human | | name |
| 150541189 | CV1298702 | single nucleotide variant | NM_019074.4(DLL4):c.647A>G (p.Tyr216Cys) | not provided [RCV001760850] | uncertain significance | 15 | 40931755 | 40931755 | Human | | name |
| 150554829 | CV1304571 | single nucleotide variant | NM_019074.4(DLL4):c.305C>A (p.Pro102His) | not provided [RCV001771541] | uncertain significance | 15 | 40930085 | 40930085 | Human | | name |
| 150557047 | CV1310374 | single nucleotide variant | NM_019074.4(DLL4):c.784G>A (p.Gly262Ser) | Adams-Oliver syndrome 6 [RCV001775302] | likely pathogenic | 15 | 40932381 | 40932381 | Human | 1 | name |
| 151839359 | CV1345643 | single nucleotide variant | NM_019074.4(DLL4):c.482C>G (p.Thr161Ser) | not provided [RCV001902648] | uncertain significance | 15 | 40931590 | 40931590 | Human | | name |
| 151828018 | CV1348180 | single nucleotide variant | NM_019074.4(DLL4):c.470T>C (p.Leu157Ser) | not provided [RCV001870253] | uncertain significance | 15 | 40931578 | 40931578 | Human | | name |
| 151815330 | CV1349328 | single nucleotide variant | NM_019074.4(DLL4):c.381C>A (p.Asp127Glu) | not provided [RCV001919024] | uncertain significance | 15 | 40930669 | 40930669 | Human | | name |
| 151732340 | CV1355591 | single nucleotide variant | NM_019074.4(DLL4):c.631G>A (p.Gly211Ser) | not provided [RCV001984341] | uncertain significance | 15 | 40931739 | 40931739 | Human | | name |
| 151854169 | CV1376471 | single nucleotide variant | NM_019074.4(DLL4):c.926C>T (p.Thr309Ile) | Inborn genetic diseases [RCV004612091]|not provided [RCV001996332] | uncertain significance | 15 | 40934623 | 40934623 | Human | 1 | name |
| 151831910 | CV1377968 | single nucleotide variant | NM_019074.4(DLL4):c.671C>T (p.Ser224Leu) | not provided [RCV002014389] | uncertain significance | 15 | 40932183 | 40932183 | Human | | name |
| 151776278 | CV1398974 | single nucleotide variant | NM_019074.4(DLL4):c.488C>G (p.Thr163Ser) | not provided [RCV001930004] | uncertain significance | 15 | 40931596 | 40931596 | Human | | name |
| 151807301 | CV1400269 | single nucleotide variant | NM_019074.4(DLL4):c.979G>A (p.Glu327Lys) | not provided [RCV002012104] | uncertain significance | 15 | 40934676 | 40934676 | Human | | name |
| 151845975 | CV1405619 | single nucleotide variant | NM_019074.4(DLL4):c.472G>A (p.Asp158Asn) | not provided [RCV001903438] | uncertain significance | 15 | 40931580 | 40931580 | Human | | name |
| 151774476 | CV1424154 | single nucleotide variant | NM_019074.4(DLL4):c.937C>T (p.Arg313Cys) | Inborn genetic diseases [RCV002642182]|not provided [RCV002025677] | uncertain significance | 15 | 40934634 | 40934634 | Human | 1 | name |
| 151883919 | CV1452513 | single nucleotide variant | NM_019074.4(DLL4):c.382G>A (p.Asp128Asn) | Adams-Oliver syndrome 6 [RCV002482398]|Inborn genetic diseases [RCV002543459]|not provided [RCV002037444] | likely benign|uncertain significance | 15 | 40930670 | 40930670 | Human | 2 | name |
| 151892314 | CV1480856 | single nucleotide variant | NM_019074.4(DLL4):c.430G>A (p.Ala144Thr) | not provided [RCV001943984] | uncertain significance | 15 | 40931538 | 40931538 | Human | | name |
| 151871187 | CV1488764 | single nucleotide variant | NM_019074.4(DLL4):c.742C>T (p.Arg248Trp) | not provided [RCV002035687] | uncertain significance | 15 | 40932339 | 40932339 | Human | | name |
| 151711502 | CV1497423 | single nucleotide variant | NM_019074.4(DLL4):c.895A>G (p.Thr299Ala) | not provided [RCV002002066] | uncertain significance | 15 | 40934592 | 40934592 | Human | | name |
| 151852981 | CV1514405 | single nucleotide variant | NM_019074.4(DLL4):c.557G>A (p.Arg186His) | not provided [RCV001979189] | uncertain significance | 15 | 40931665 | 40931665 | Human | | name |
| 152107751 | CV1550677 | single nucleotide variant | NM_019074.4(DLL4):c.398C>A (p.Ala133Asp) | not provided [RCV002152633] | likely benign | 15 | 40931506 | 40931506 | Human | | name |
| 152064301 | CV1606774 | single nucleotide variant | NM_019074.4(DLL4):c.938G>A (p.Arg313His) | DLL4-related disorder [RCV003941346]|Inborn genetic diseases [RCV002562281]|not provided [RCV002209103] | likely benign|uncertain significance | 15 | 40934635 | 40934635 | Human | 2 | name , trait , alternate_id |
| 156399797 | CV1892712 | single nucleotide variant | NM_019074.4(DLL4):c.704A>C (p.Lys235Thr) | Inborn genetic diseases [RCV004614338]|not provided [RCV003069020] | likely benign|uncertain significance | 15 | 40932216 | 40932216 | Human | 1 | name |
| 156407523 | CV1957518 | single nucleotide variant | NM_019074.4(DLL4):c.782A>G (p.His261Arg) | not provided [RCV002586255] | uncertain significance | 15 | 40932379 | 40932379 | Human | | name |
| 156157686 | CV1967715 | single nucleotide variant | NM_019074.4(DLL4):c.595G>A (p.Val199Met) | not provided [RCV002594355] | uncertain significance | 15 | 40931703 | 40931703 | Human | | name |
| 156101506 | CV2001104 | single nucleotide variant | NM_019074.4(DLL4):c.595G>C (p.Val199Leu) | not provided [RCV002639600] | likely benign | 15 | 40931703 | 40931703 | Human | | name |
| 156391213 | CV2006196 | single nucleotide variant | NM_019074.4(DLL4):c.754G>A (p.Glu252Lys) | Inborn genetic diseases [RCV004066822]|not provided [RCV002654399] | uncertain significance | 15 | 40932351 | 40932351 | Human | 1 | name |
| 10401282 | CV200762 | single nucleotide variant | NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) | Adams-Oliver syndrome 6 [RCV000195289]|Adams-Oliver syndrome [RCV000190441] | pathogenic | 15 | 40930649 | 40930649 | Human | 2 | name |
| 10401280 | CV200763 | single nucleotide variant | NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) | Adams-Oliver syndrome 6 [RCV000195285]|Adams-Oliver syndrome [RCV000190439]|DLL4-related disorder [RCV004730899] | pathogenic|likely pathogenic | 15 | 40931664 | 40931664 | Human | 2 | name , trait , alternate_id |
| 10401283 | CV200764 | single nucleotide variant | NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) | Adams-Oliver syndrome [RCV000190442] | pathogenic | 15 | 40931691 | 40931691 | Human | 1 | name |
| 10401281 | CV200765 | single nucleotide variant | NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) | Adams-Oliver syndrome 6 [RCV000662259]|Adams-Oliver syndrome [RCV000190440] | pathogenic|uncertain significance|no classifications from unflagged records | 15 | 40932396 | 40932396 | Human | 2 | name |
| 155997306 | CV2373169 | single nucleotide variant | NM_019074.4(DLL4):c.661A>G (p.Ile221Val) | Inborn genetic diseases [RCV002689742] | uncertain significance | 15 | 40932173 | 40932173 | Human | 1 | name |
| 329402243 | CV2454085 | single nucleotide variant | NM_019074.4(DLL4):c.926C>G (p.Thr309Ser) | Inborn genetic diseases [RCV003199150] | uncertain significance | 15 | 40934623 | 40934623 | Human | 1 | name |
| 401725430 | CV2721769 | single nucleotide variant | NM_019074.4(DLL4):c.384C>A (p.Asp128Glu) | Inborn genetic diseases [RCV003268972] | likely benign | 15 | 40930672 | 40930672 | Human | 1 | name |
| 401931457 | CV2796425 | single nucleotide variant | NM_019074.4(DLL4):c.572G>A (p.Arg191His) | DLL4-related disorder [RCV003391425] | likely pathogenic | 15 | 40931680 | 40931680 | Human | | name , trait , alternate_id |
| 401912690 | CV2800761 | single nucleotide variant | NM_019074.4(DLL4):c.899G>A (p.Cys300Tyr) | DLL4-related disorder [RCV003399937] | uncertain significance | 15 | 40934596 | 40934596 | Human | | name , trait , alternate_id |
| 401916140 | CV2817431 | single nucleotide variant | NM_019074.4(DLL4):c.490C>T (p.Leu164Phe) | not provided [RCV003400872] | uncertain significance | 15 | 40931598 | 40931598 | Human | | name |
| 405234515 | CV2975509 | single nucleotide variant | NM_019074.4(DLL4):c.628C>A (p.Pro210Thr) | not provided [RCV003682690] | uncertain significance | 15 | 40931736 | 40931736 | Human | | name |
| 402488235 | CV3034137 | single nucleotide variant | NM_019074.4(DLL4):c.714G>T (p.Glu238Asp) | not provided [RCV003713455] | uncertain significance | 15 | 40932226 | 40932226 | Human | | name |
| 405708302 | CV3240492 | single nucleotide variant | NM_019074.4(DLL4):c.471G>C (p.Leu157Phe) | DLL4-related disorder [RCV004753743]|Inborn genetic diseases [RCV004376248] | uncertain significance | 15 | 40931579 | 40931579 | Human | 2 | name , trait , alternate_id |
| 405708309 | CV3240493 | single nucleotide variant | NM_019074.4(DLL4):c.682G>C (p.Glu228Gln) | Inborn genetic diseases [RCV004376249] | likely benign | 15 | 40932194 | 40932194 | Human | 1 | name |
| 407429139 | CV3413526 | single nucleotide variant | NM_019074.4(DLL4):c.329C>T (p.Thr110Ile) | Adams-Oliver syndrome 6 [RCV004594934] | likely pathogenic | 15 | 40930109 | 40930109 | Human | 1 | name |
| 407475164 | CV3430688 | single nucleotide variant | NM_019074.4(DLL4):c.357C>G (p.Ile119Met) | Inborn genetic diseases [RCV004616619] | uncertain significance | 15 | 40930645 | 40930645 | Human | 1 | name |
| 597658584 | CV3658885 | single nucleotide variant | NM_019074.4(DLL4):c.890G>A (p.Gly297Glu) | Inborn genetic diseases [RCV004976952] | uncertain significance | 15 | 40934587 | 40934587 | Human | 1 | name |
| 597845059 | CV3772237 | single nucleotide variant | NM_019074.4(DLL4):c.392C>G (p.Pro131Arg) | not provided [RCV005120556] | uncertain significance | 15 | 40930680 | 40930680 | Human | | name |
| 597851148 | CV3781825 | deletion | NM_019074.4(DLL4):c.1528del (p.Tyr510fs) | not provided [RCV005126253] | pathogenic | 15 | 40936514 | 40936514 | Human | | name |
| 13704925 | CV514252 | single nucleotide variant | NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) | Adams-Oliver syndrome 6 [RCV000662242] | likely pathogenic | 15 | 40934646 | 40934646 | Human | 1 | name |
| 15153392 | CV726037 | single nucleotide variant | NM_019074.4(DLL4):c.743G>A (p.Arg248Gln) | Inborn genetic diseases [RCV002539290]|not provided [RCV000880000] | likely benign | 15 | 40932340 | 40932340 | Human | 1 | name |
| 150555129 | CV1295944 | single nucleotide variant | NM_019074.4(DLL4):c.1658G>A (p.Arg553Gln) | Inborn genetic diseases [RCV004040149]|not provided [RCV001772453] | likely benign|uncertain significance | 15 | 40936645 | 40936645 | Human | 1 | name |
| 150553445 | CV1303442 | single nucleotide variant | NM_019074.4(DLL4):c.1229C>T (p.Pro410Leu) | not provided [RCV001769132] | uncertain significance | 15 | 40935106 | 40935106 | Human | | name |
| 151843918 | CV1375807 | single nucleotide variant | NM_019074.4(DLL4):c.1895C>T (p.Pro632Leu) | not provided [RCV001995091] | uncertain significance | 15 | 40936882 | 40936882 | Human | | name |
| 151893043 | CV1411852 | single nucleotide variant | NM_019074.4(DLL4):c.1064A>G (p.Tyr355Cys) | not provided [RCV001944712] | uncertain significance | 15 | 40934941 | 40934941 | Human | | name |
| 151819562 | CV1416000 | single nucleotide variant | NM_019074.4(DLL4):c.1132C>T (p.Arg378Trp) | not provided [RCV001919431] | uncertain significance | 15 | 40935009 | 40935009 | Human | | name |
| 151774701 | CV1440110 | single nucleotide variant | NM_019074.4(DLL4):c.1291G>A (p.Gly431Arg) | not provided [RCV001874787] | uncertain significance | 15 | 40936278 | 40936278 | Human | | name |
| 151774223 | CV1440527 | single nucleotide variant | NM_019074.4(DLL4):c.1280G>A (p.Arg427His) | not provided [RCV001896639] | uncertain significance | 15 | 40936267 | 40936267 | Human | | name |
| 151890373 | CV1448141 | single nucleotide variant | NM_019074.4(DLL4):c.1270C>A (p.Arg424Ser) | Inborn genetic diseases [RCV004043339]|not provided [RCV001943021] | uncertain significance | 15 | 40936257 | 40936257 | Human | 1 | name |
| 151733533 | CV1456549 | single nucleotide variant | NM_019074.4(DLL4):c.1337G>A (p.Arg446His) | not provided [RCV002041446] | uncertain significance | 15 | 40936324 | 40936324 | Human | | name |
| 151840751 | CV1462619 | single nucleotide variant | NM_019074.4(DLL4):c.1933C>T (p.Arg645Trp) | not provided [RCV002015303] | uncertain significance | 15 | 40936920 | 40936920 | Human | | name |
| 151838276 | CV1470226 | single nucleotide variant | NM_019074.4(DLL4):c.1683C>G (p.Asp561Glu) | not provided [RCV001902536] | uncertain significance | 15 | 40936670 | 40936670 | Human | | name |
| 151867195 | CV1474104 | single nucleotide variant | NM_019074.4(DLL4):c.1421G>A (p.Arg474His) | not provided [RCV001906026] | uncertain significance | 15 | 40936408 | 40936408 | Human | | name |
| 151728532 | CV1486738 | single nucleotide variant | NM_019074.4(DLL4):c.1873G>A (p.Gly625Arg) | Inborn genetic diseases [RCV002552295]|not provided [RCV001892001] | likely benign|uncertain significance | 15 | 40936860 | 40936860 | Human | 1 | name |
| 151791267 | CV1489946 | single nucleotide variant | NM_019074.4(DLL4):c.1321G>A (p.Val441Ile) | Inborn genetic diseases [RCV002557785]|not provided [RCV001952072] | likely benign|uncertain significance | 15 | 40936308 | 40936308 | Human | 1 | name |
| 151829604 | CV1491540 | single nucleotide variant | NM_019074.4(DLL4):c.1670T>G (p.Leu557Arg) | Inborn genetic diseases [RCV004976081]|not provided [RCV002030668] | uncertain significance | 15 | 40936657 | 40936657 | Human | 1 | name |
| 151736167 | CV1507107 | single nucleotide variant | NM_019074.4(DLL4):c.1870C>T (p.Arg624Trp) | Inborn genetic diseases [RCV002561509]|not provided [RCV001984742] | likely benign|uncertain significance | 15 | 40936857 | 40936857 | Human | 1 | name |
| 151757334 | CV1514151 | single nucleotide variant | NM_019074.4(DLL4):c.1001G>A (p.Arg334His) | not provided [RCV001948750] | uncertain significance | 15 | 40934698 | 40934698 | Human | | name |
| 152981242 | CV1676710 | single nucleotide variant | NM_019074.4(DLL4):c.1143C>G (p.Asn381Lys) | not provided [RCV003093971]|not specified [RCV002247774] | uncertain significance | 15 | 40935020 | 40935020 | Human | | name |
| 155703977 | CV1774823 | single nucleotide variant | NM_019074.4(DLL4):c.2012T>C (p.Leu671Ser) | not provided [RCV002300098] | uncertain significance | 15 | 40937486 | 40937486 | Human | | name |
| 156412922 | CV1887027 | single nucleotide variant | NM_019074.4(DLL4):c.1418G>A (p.Arg473Gln) | not provided [RCV003073086] | likely benign | 15 | 40936405 | 40936405 | Human | | name |
| 156059908 | CV1892297 | single nucleotide variant | NM_019074.4(DLL4):c.1025A>G (p.Gln342Arg) | not provided [RCV003079187] | uncertain significance | 15 | 40934902 | 40934902 | Human | | name |
| 156342258 | CV1896923 | single nucleotide variant | NM_019074.4(DLL4):c.1327G>A (p.Asp443Asn) | not provided [RCV003090430] | uncertain significance | 15 | 40936314 | 40936314 | Human | | name |
| 156444326 | CV1938182 | single nucleotide variant | NM_019074.4(DLL4):c.1871G>A (p.Arg624Gln) | not provided [RCV003115250] | uncertain significance | 15 | 40936858 | 40936858 | Human | | name |
| 156419844 | CV1967431 | single nucleotide variant | NM_019074.4(DLL4):c.1960C>T (p.Arg654Trp) | not provided [RCV002613090] | uncertain significance | 15 | 40937434 | 40937434 | Human | | name |
| 10401279 | CV200766 | single nucleotide variant | NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) | Adams-Oliver syndrome 6 [RCV000195284]|Adams-Oliver syndrome [RCV000190438] | pathogenic | 15 | 40935045 | 40935045 | Human | 2 | name |
| 10401278 | CV200767 | single nucleotide variant | NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) | Adams-Oliver syndrome 6 [RCV000195288]|Adams-Oliver syndrome [RCV000190437] | pathogenic | 15 | 40935046 | 40935046 | Human | 2 | name |
| 10401277 | CV200768 | single nucleotide variant | NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) | Adams-Oliver syndrome [RCV000190436] | pathogenic | 15 | 40936352 | 40936352 | Human | 1 | name |
| 10401276 | CV200769 | single nucleotide variant | NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) | Adams-Oliver syndrome 6 [RCV000195286]|Adams-Oliver syndrome [RCV000190434] | pathogenic | 15 | 40936647 | 40936647 | Human | 2 | name |
| 10401275 | CV200770 | single nucleotide variant | NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) | Adams-Oliver syndrome 6 [RCV000195290]|Adams-Oliver syndrome [RCV000190435] | pathogenic | 15 | 40936659 | 40936659 | Human | 2 | name |
| 156265691 | CV2030435 | single nucleotide variant | NM_019074.4(DLL4):c.1873G>C (p.Gly625Arg) | not provided [RCV002746462] | uncertain significance | 15 | 40936860 | 40936860 | Human | | name |
| 156135989 | CV2044361 | single nucleotide variant | NM_019074.4(DLL4):c.1961G>A (p.Arg654Gln) | not provided [RCV002786350] | uncertain significance | 15 | 40937435 | 40937435 | Human | | name |
| 155938616 | CV2046087 | single nucleotide variant | NM_019074.4(DLL4):c.1336C>T (p.Arg446Cys) | not provided [RCV002751631] | uncertain significance | 15 | 40936323 | 40936323 | Human | | name |
| 156093781 | CV2114087 | single nucleotide variant | NM_019074.4(DLL4):c.1138C>T (p.Arg380Cys) | not provided [RCV002926780] | uncertain significance | 15 | 40935015 | 40935015 | Human | | name |
| 155908248 | CV2130948 | single nucleotide variant | NM_019074.4(DLL4):c.1154A>C (p.Asn385Thr) | not provided [RCV002967852] | uncertain significance | 15 | 40935031 | 40935031 | Human | | name |
| 156147260 | CV2130980 | single nucleotide variant | NM_019074.4(DLL4):c.1433G>A (p.Arg478Gln) | not provided [RCV002982527] | uncertain significance | 15 | 40936420 | 40936420 | Human | | name |
| 156394589 | CV2141305 | single nucleotide variant | NM_019074.4(DLL4):c.1312G>A (p.Glu438Lys) | not provided [RCV002944291] | uncertain significance | 15 | 40936299 | 40936299 | Human | | name |
| 155910581 | CV2141560 | single nucleotide variant | NM_019074.4(DLL4):c.1186G>A (p.Gly396Ser) | Inborn genetic diseases [RCV002968017]|not provided [RCV002979002] | likely benign|uncertain significance | 15 | 40935063 | 40935063 | Human | 1 | name |
| 156262220 | CV2143369 | single nucleotide variant | NM_019074.4(DLL4):c.1240G>A (p.Gly414Arg) | not provided [RCV003008963] | pathogenic | 15 | 40935117 | 40935117 | Human | | name |
| 156313622 | CV2143889 | single nucleotide variant | NM_019074.4(DLL4):c.1864C>G (p.Leu622Val) | not provided [RCV003011257] | benign | 15 | 40936851 | 40936851 | Human | | name |
| 155955934 | CV2162636 | single nucleotide variant | NM_019074.4(DLL4):c.1747G>T (p.Ala583Ser) | not provided [RCV003015099] | uncertain significance | 15 | 40936734 | 40936734 | Human | | name |
| 155965537 | CV2206488 | single nucleotide variant | NM_019074.4(DLL4):c.1102G>A (p.Asp368Asn) | Adams-Oliver syndrome 6 [RCV005356314]|DLL4-related disorder [RCV003395632]|Inborn genetic diseases [RCV002687026] | uncertain significance | 15 | 40934979 | 40934979 | Human | 2 | name , trait , alternate_id |
| 156153158 | CV2265967 | single nucleotide variant | NM_019074.4(DLL4):c.1072C>T (p.His358Tyr) | Inborn genetic diseases [RCV002826906] | uncertain significance | 15 | 40934949 | 40934949 | Human | 1 | name |
| 156262217 | CV2314831 | single nucleotide variant | NM_019074.4(DLL4):c.1769A>C (p.Gln590Pro) | Inborn genetic diseases [RCV002920574] | uncertain significance | 15 | 40936756 | 40936756 | Human | 1 | name |
| 156083566 | CV2369035 | single nucleotide variant | NM_019074.4(DLL4):c.1106C>A (p.Ser369Tyr) | Inborn genetic diseases [RCV003001435] | uncertain significance | 15 | 40934983 | 40934983 | Human | 1 | name |
| 329951803 | CV2671458 | single nucleotide variant | NM_019074.4(DLL4):c.1396T>C (p.Cys466Arg) | Adams-Oliver syndrome 6 [RCV003236682] | likely pathogenic | 15 | 40936383 | 40936383 | Human | 1 | name |
| 401741067 | CV2690368 | single nucleotide variant | NM_019074.4(DLL4):c.1899C>G (p.His633Gln) | Inborn genetic diseases [RCV003274517] | uncertain significance | 15 | 40936886 | 40936886 | Human | 1 | name |
| 401795971 | CV2740133 | single nucleotide variant | NM_019074.4(DLL4):c.1429G>T (p.Val477Leu) | Adams-Oliver syndrome 6 [RCV003320423] | uncertain significance | 15 | 40936416 | 40936416 | Human | 1 | name |
| 401862126 | CV2775160 | single nucleotide variant | NM_019074.4(DLL4):c.1142A>G (p.Asn381Ser) | Inborn genetic diseases [RCV003343082] | uncertain significance | 15 | 40935019 | 40935019 | Human | 1 | name |
| 405124784 | CV2889634 | single nucleotide variant | NM_019074.4(DLL4):c.1552G>A (p.Glu518Lys) | not provided [RCV003559462] | likely benign | 15 | 40936539 | 40936539 | Human | | name |
| 405191412 | CV2964697 | single nucleotide variant | NM_019074.4(DLL4):c.1387A>C (p.Met463Leu) | not provided [RCV003677128] | uncertain significance | 15 | 40936374 | 40936374 | Human | | name |
| 405077010 | CV3008065 | single nucleotide variant | NM_019074.4(DLL4):c.1357G>A (p.Gly453Ser) | not provided [RCV003716819] | uncertain significance | 15 | 40936344 | 40936344 | Human | | name |
| 405243344 | CV3043869 | single nucleotide variant | NM_019074.4(DLL4):c.1687G>A (p.Gly563Ser) | not provided [RCV003719626] | uncertain significance | 15 | 40936674 | 40936674 | Human | | name |
| 405026565 | CV3079335 | single nucleotide variant | NM_019074.4(DLL4):c.1198G>A (p.Glu400Lys) | not provided [RCV003738830] | uncertain significance | 15 | 40935075 | 40935075 | Human | | name |
| 405084706 | CV3121971 | single nucleotide variant | NM_019074.4(DLL4):c.1934G>A (p.Arg645Gln) | not provided [RCV003810726] | uncertain significance | 15 | 40936921 | 40936921 | Human | | name |
| 405040983 | CV3141108 | single nucleotide variant | NM_019074.4(DLL4):c.2001G>C (p.Gln667His) | not provided [RCV003831401] | uncertain significance | 15 | 40937475 | 40937475 | Human | | name |
| 405188169 | CV3149238 | single nucleotide variant | NM_019074.4(DLL4):c.1925C>T (p.Ala642Val) | DLL4-related disorder [RCV004753729]|not provided [RCV003843164] | uncertain significance | 15 | 40936912 | 40936912 | Human | 1 | name , trait , alternate_id |
| 405190327 | CV3156988 | single nucleotide variant | NM_019074.4(DLL4):c.1598C>T (p.Ser533Leu) | not provided [RCV003859676] | uncertain significance | 15 | 40936585 | 40936585 | Human | | name |
| 405084555 | CV3167264 | single nucleotide variant | NM_019074.4(DLL4):c.1675C>T (p.Arg559Trp) | not provided [RCV003851845] | uncertain significance | 15 | 40936662 | 40936662 | Human | | name |
| 405252933 | CV3178147 | single nucleotide variant | NM_019074.4(DLL4):c.1886G>A (p.Gly629Glu) | not provided [RCV003870927] | uncertain significance | 15 | 40936873 | 40936873 | Human | | name |
| 405708116 | CV3225466 | single nucleotide variant | NM_019074.4(DLL4):c.1109C>T (p.Pro370Leu) | Adams-Oliver syndrome 6 [RCV003990522] | uncertain significance | 15 | 40934986 | 40934986 | Human | 1 | name |
| 405708250 | CV3240484 | single nucleotide variant | NM_019074.4(DLL4):c.1154A>G (p.Asn385Ser) | Inborn genetic diseases [RCV004376240] | likely benign | 15 | 40935031 | 40935031 | Human | 1 | name |
| 405708257 | CV3240485 | single nucleotide variant | NM_019074.4(DLL4):c.1244G>C (p.Gly415Ala) | Inborn genetic diseases [RCV004376241] | uncertain significance | 15 | 40936231 | 40936231 | Human | 1 | name |
| 405708264 | CV3240486 | single nucleotide variant | NM_019074.4(DLL4):c.1298C>T (p.Thr433Met) | Inborn genetic diseases [RCV004376242] | uncertain significance | 15 | 40936285 | 40936285 | Human | 1 | name |
| 405708271 | CV3240487 | single nucleotide variant | NM_019074.4(DLL4):c.1444G>A (p.Asp482Asn) | Inborn genetic diseases [RCV004376243] | uncertain significance | 15 | 40936431 | 40936431 | Human | 1 | name |
| 405708282 | CV3240489 | single nucleotide variant | NM_019074.4(DLL4):c.1673G>A (p.Arg558Gln) | Inborn genetic diseases [RCV004376245] | uncertain significance | 15 | 40936660 | 40936660 | Human | 1 | name |
| 405708289 | CV3240490 | single nucleotide variant | NM_019074.4(DLL4):c.1684G>A (p.Asp562Asn) | Inborn genetic diseases [RCV004376246] | uncertain significance | 15 | 40936671 | 40936671 | Human | 1 | name |
| 405708297 | CV3240491 | single nucleotide variant | NM_019074.4(DLL4):c.1993A>C (p.Met665Leu) | Inborn genetic diseases [RCV004376247] | likely benign | 15 | 40937467 | 40937467 | Human | 1 | name |
| 407475151 | CV3430685 | single nucleotide variant | NM_019074.4(DLL4):c.1405G>A (p.Gly469Ser) | Inborn genetic diseases [RCV004616616] | uncertain significance | 15 | 40936392 | 40936392 | Human | 1 | name |
| 407475159 | CV3430687 | single nucleotide variant | NM_019074.4(DLL4):c.1956G>C (p.Glu652Asp) | Inborn genetic diseases [RCV004616618] | uncertain significance | 15 | 40937430 | 40937430 | Human | 1 | name |
| 407475167 | CV3430689 | single nucleotide variant | NM_019074.4(DLL4):c.1210G>A (p.Asp404Asn) | Inborn genetic diseases [RCV004616620] | uncertain significance | 15 | 40935087 | 40935087 | Human | 1 | name |
| 408383112 | CV3504578 | single nucleotide variant | NM_019074.4(DLL4):c.1998C>G (p.Tyr666Ter) | DLL4-related disorder [RCV004730358] | likely pathogenic | 15 | 40937472 | 40937472 | Human | | name , trait , alternate_id |
| 408383672 | CV3507068 | single nucleotide variant | NM_019074.4(DLL4):c.1862C>T (p.Pro621Leu) | DLL4-related disorder [RCV004730801] | uncertain significance | 15 | 40936849 | 40936849 | Human | | name , trait , alternate_id |
| 408386691 | CV3518494 | single nucleotide variant | NM_019074.4(DLL4):c.1640T>C (p.Met547Thr) | not provided [RCV004760812] | uncertain significance | 15 | 40936627 | 40936627 | Human | | name |
| 597658572 | CV3658882 | single nucleotide variant | NM_019074.4(DLL4):c.2017T>A (p.Ser673Thr) | Inborn genetic diseases [RCV004976949] | uncertain significance | 15 | 40937491 | 40937491 | Human | 1 | name |
| 597658576 | CV3658883 | single nucleotide variant | NM_019074.4(DLL4):c.1259G>A (p.Arg420Gln) | Inborn genetic diseases [RCV004976950] | uncertain significance | 15 | 40936246 | 40936246 | Human | 1 | name |
| 597658580 | CV3658884 | single nucleotide variant | NM_019074.4(DLL4):c.1012A>G (p.Ser338Gly) | Inborn genetic diseases [RCV004976951] | uncertain significance | 15 | 40934709 | 40934709 | Human | 1 | name |
| 597658587 | CV3658887 | single nucleotide variant | NM_019074.4(DLL4):c.1681G>A (p.Asp561Asn) | Inborn genetic diseases [RCV004976953] | uncertain significance | 15 | 40936668 | 40936668 | Human | 1 | name |
| 597714628 | CV3733126 | single nucleotide variant | NM_019074.4(DLL4):c.1424G>C (p.Cys475Ser) | Adams-Oliver syndrome 6 [RCV005052315] | likely pathogenic | 15 | 40936411 | 40936411 | Human | 1 | name |
| 597832954 | CV3734781 | single nucleotide variant | NM_019074.4(DLL4):c.1844A>G (p.Tyr615Cys) | Adams-Oliver syndrome 6 [RCV005054514] | uncertain significance | 15 | 40936831 | 40936831 | Human | 1 | name |
| 597834146 | CV3735192 | single nucleotide variant | NM_019074.4(DLL4):c.1088C>T (p.Thr363Ile) | not provided [RCV005054925] | uncertain significance | 15 | 40934965 | 40934965 | Human | | name |
| 597925927 | CV3748839 | single nucleotide variant | NM_019074.4(DLL4):c.1547G>A (p.Arg516His) | not provided [RCV005075295] | uncertain significance | 15 | 40936534 | 40936534 | Human | | name |
| 597856497 | CV3778160 | single nucleotide variant | NM_019074.4(DLL4):c.1750C>T (p.Gln584Ter) | not provided [RCV005130884] | pathogenic | 15 | 40936737 | 40936737 | Human | | name |
| 597884134 | CV3819244 | single nucleotide variant | NM_019074.4(DLL4):c.1349C>T (p.Ala450Val) | Inborn genetic diseases [RCV005326023]|not provided [RCV005159054] | uncertain significance | 15 | 40936336 | 40936336 | Human | 1 | name |
| 597925523 | CV3859537 | single nucleotide variant | NM_019074.4(DLL4):c.1594G>A (p.Val532Ile) | not provided [RCV005200193] | uncertain significance | 15 | 40936581 | 40936581 | Human | | name |
| 598184526 | CV3960285 | single nucleotide variant | NM_019074.4(DLL4):c.1139G>A (p.Arg380His) | Inborn genetic diseases [RCV005333695] | uncertain significance | 15 | 40935016 | 40935016 | Human | 1 | name |
| 616938523 | CV4015012 | single nucleotide variant | NM_019074.4(DLL4):c.1423T>G (p.Cys475Gly) | not provided [RCV005412028] | uncertain significance | 15 | 40936410 | 40936410 | Human | | name |
| 13704926 | CV514254 | single nucleotide variant | NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) | Adams-Oliver syndrome 6 [RCV000662243] | pathogenic | 15 | 40936297 | 40936297 | Human | 1 | name |
| 13704927 | CV514255 | single nucleotide variant | NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) | Adams-Oliver syndrome 6 [RCV000662244] | pathogenic | 15 | 40936384 | 40936384 | Human | 1 | name |
| 13704917 | CV514256 | single nucleotide variant | NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) | Adams-Oliver syndrome 6 [RCV000662234] | pathogenic | 15 | 40936812 | 40936812 | Human | 1 | name |
| 13831615 | CV582113 | single nucleotide variant | NM_019074.4(DLL4):c.1109C>G (p.Pro370Arg) | not provided [RCV000722295] | uncertain significance | 15 | 40934986 | 40934986 | Human | | name |
| 15179916 | CV726039 | single nucleotide variant | NM_019074.4(DLL4):c.1561G>A (p.Val521Met) | not provided [RCV000885402] | benign | 15 | 40936548 | 40936548 | Human | | name |
| 21068945 | CV788887 | single nucleotide variant | NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) | Adams-Oliver syndrome 6 [RCV000985148] | likely pathogenic | 15 | 40936379 | 40936379 | Human | 1 | name |
| 40816185 | CV969180 | single nucleotide variant | NM_019074.4(DLL4):c.1336C>A (p.Arg446Ser) | not specified [RCV001260296] | uncertain significance | 15 | 40936323 | 40936323 | Human | | name |
| 13704939 | CV514251 | deletion | NM_019074.4(DLL4):c.265_267del (p.Phe89del) | Adams-Oliver syndrome 6 [RCV000662258] | uncertain significance | 15 | 40930044 | 40930046 | Human | 1 | name |
| 13532336 | CV512138 | deletion | NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs) | Inborn genetic diseases [RCV000624101] | likely pathogenic | 15 | 40936659 | 40936669 | Human | 1 | name |
| 34888513 | CV917779 | deletion | NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs) | Adams-Oliver syndrome 6 [RCV001194629] | pathogenic | 15 | 40936838 | 40936845 | Human | 1 | name |
| 405152067 | CV2957004 | deletion | NM_019074.4(DLL4):c.1742_1750del (p.Pro581_Ala583del) | not provided [RCV003670026] | uncertain significance | 15 | 40936728 | 40936736 | Human | | name |
| 13832449 | CV582944 | deletion | NM_019074.4(DLL4):c.1508_1510del (p.Thr503_Phe504delinsIle) | not provided [RCV000723138] | uncertain significance | 15 | 40936495 | 40936497 | Human | | name |