| - GRCh37:
- Chr15:41221382
- GRCh38:
- Chr15:40929184
| DLL4 | | not provided | Likely benign (Oct 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221762
- GRCh38:
- Chr15:40929564
| DLL4 | | not provided | Likely benign (Oct 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221871
- GRCh38:
- Chr15:40929673
| DLL4 | A2V | not provided | Uncertain significance (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221878
- GRCh38:
- Chr15:40929680
| DLL4 | | not provided | Likely benign (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221901
- GRCh38:
- Chr15:40929703
| DLL4 | A12V | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221905
- GRCh38:
- Chr15:40929707
| DLL4 | | not provided | Benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221921
- GRCh38:
- Chr15:40929723
| DLL4 | L19F | not provided | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221925
- GRCh38:
- Chr15:40929727
| DLL4 | W20L | not provided | Uncertain significance (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41221987
- GRCh38:
- Chr15:40929789
| DLL4 | | not provided | Likely benign (Oct 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222025
- GRCh38:
- Chr15:40929827
| DLL4 | | not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41222035
- GRCh38:
- Chr15:40929837
| DLL4 | | not provided | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222046
- GRCh38:
- Chr15:40929848
| DLL4 | R23H | not provided | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222060
- GRCh38:
- Chr15:40929862
| DLL4 | G28R | Adams-Oliver syndrome 6 | Likely pathogenic (Dec 18, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:41222134
- GRCh38:
- Chr15:40929936
| DLL4 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222178
- GRCh38:
- Chr15:40929980
| DLL4 | A67V | not provided | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222182
- GRCh38:
- Chr15:40929984
| DLL4 | | not provided | Likely benign (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222183
- GRCh38:
- Chr15:40929985
| DLL4 | V69F | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Sep 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:41222242-41222244
- GRCh38:
- Chr15:40930044-40930046
| DLL4 | F89del | Adams-Oliver syndrome 6 | Uncertain significance (Dec 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222271
- GRCh38:
- Chr15:40930073
| DLL4 | G98A | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222275
- GRCh38:
- Chr15:40930077
| DLL4 | | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222283
- GRCh38:
- Chr15:40930085
| DLL4 | P102H | not provided | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222293
- GRCh38:
- Chr15:40930095
| DLL4 | | not provided | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222320
- GRCh38:
- Chr15:40930122
| DLL4 | | not provided | Uncertain significance (Nov 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222331
- GRCh38:
- Chr15:40930133
| DLL4 | | not provided | Benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222487
- GRCh38:
- Chr15:40930289
| DLL4 | | not provided | Benign (Nov 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222803
- GRCh38:
- Chr15:40930605
| DLL4 | | not provided | Benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222813
- GRCh38:
- Chr15:40930615
| DLL4 | | not provided | Likely benign (Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222815
- GRCh38:
- Chr15:40930617
| DLL4 | | not provided | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222839
- GRCh38:
- Chr15:40930641
| DLL4 | I118fs | not provided | Pathogenic (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222847
- GRCh38:
- Chr15:40930649
| DLL4 | A121P | Adams-Oliver syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222855
- GRCh38:
- Chr15:40930657
| DLL4 | | not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41222861
- GRCh38:
- Chr15:40930663
| DLL4 | | not provided | Likely benign (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222867
- GRCh38:
- Chr15:40930669
| DLL4 | D127E | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41222868
- GRCh38:
- Chr15:40930670
| DLL4 | D128N | Inborn genetic diseases, Adams-Oliver syndrome 6, not provided
| Conflicting interpretations of pathogenicity (Aug 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:41223682
- GRCh38:
- Chr15:40931484
| DLL4 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223683
- GRCh38:
- Chr15:40931485
| DLL4 | | not provided | Benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223695
- GRCh38:
- Chr15:40931497
| DLL4 | | not provided | Likely benign (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223704
- GRCh38:
- Chr15:40931506
| DLL4 | A133D | not provided | Likely benign (Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223736
- GRCh38:
- Chr15:40931538
| DLL4 | A144T | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223747
- GRCh38:
- Chr15:40931549
| DLL4 | | not provided | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223775
- GRCh38:
- Chr15:40931577
| DLL4 | | not provided | Likely benign (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223776
- GRCh38:
- Chr15:40931578
| DLL4 | L157S | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223778
- GRCh38:
- Chr15:40931580
| DLL4 | D158N | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223788
- GRCh38:
- Chr15:40931590
| DLL4 | T161S | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223794
- GRCh38:
- Chr15:40931596
| DLL4 | T163S | not provided | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223805
- GRCh38:
- Chr15:40931607
| DLL4 | | not provided | Likely benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223822
- GRCh38:
- Chr15:40931624
| DLL4 | | not provided | Benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223828
- GRCh38:
- Chr15:40931630
| DLL4 | | not provided | Likely benign (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223840
- GRCh38:
- Chr15:40931642
| DLL4 | | not provided | Likely benign (Jun 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223862
- GRCh38:
- Chr15:40931664
| DLL4 | R186C | Adams-Oliver syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223863
- GRCh38:
- Chr15:40931665
| DLL4 | R186H | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223882
- GRCh38:
- Chr15:40931684
| DLL4 | | not provided | Likely benign (Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223888
- GRCh38:
- Chr15:40931690
| DLL4 | | not provided | Likely benign (Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223889
- GRCh38:
- Chr15:40931691
| DLL4 | F195L | Adams-Oliver syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223891
- GRCh38:
- Chr15:40931693
| DLL4 | | not provided | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223901
- GRCh38:
- Chr15:40931703
| DLL4 | V199L | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223901
- GRCh38:
- Chr15:40931703
| DLL4 | V199M | not provided | Uncertain significance (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223937
- GRCh38:
- Chr15:40931739
| DLL4 | G211S | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223953
- GRCh38:
- Chr15:40931755
| DLL4 | Y216C | not provided | Uncertain significance (Jul 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41223974
- GRCh38:
- Chr15:40931776
| DLL4 | | not provided | Likely benign (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224124
- GRCh38:
- Chr15:40931926
| DLL4 | | not provided | Benign (Oct 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224280
- GRCh38:
- Chr15:40932082
| DLL4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224292
- GRCh38:
- Chr15:40932094
| DLL4 | | not provided | Benign (Nov 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224349
- GRCh38:
- Chr15:40932151
| DLL4 | | not provided | Likely benign (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224371
- GRCh38:
- Chr15:40932173
| DLL4 | I221V | Inborn genetic diseases | Uncertain significance (May 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224381
- GRCh38:
- Chr15:40932183
| DLL4 | S224L | not provided | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224382
- GRCh38:
- Chr15:40932184
| DLL4 | | not provided | Benign (Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41224414
- GRCh38:
- Chr15:40932216
| DLL4 | K235T | not provided | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224418
- GRCh38:
- Chr15:40932220
| DLL4 | | not provided | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224499
- GRCh38:
- Chr15:40932301
| DLL4 | | not provided | Likely benign (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224505
- GRCh38:
- Chr15:40932307
| DLL4 | | not provided | Benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224506
- GRCh38:
- Chr15:40932308
| DLL4 | | not provided | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224537
- GRCh38:
- Chr15:40932339
| DLL4 | R248W | not provided | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224538
- GRCh38:
- Chr15:40932340
| DLL4 | R248Q | Inborn genetic diseases, not provided | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41224548
- GRCh38:
- Chr15:40932350
| DLL4 | | not provided | Likely benign (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224549
- GRCh38:
- Chr15:40932351
| DLL4 | E252K | not provided | Uncertain significance (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224557
- GRCh38:
- Chr15:40932359
| DLL4 | | not provided | Benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224577
- GRCh38:
- Chr15:40932379
| DLL4 | H261R | not provided | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224579
- GRCh38:
- Chr15:40932381
| DLL4 | G262S | Adams-Oliver syndrome 6 | Likely pathogenic (Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41224594
- GRCh38:
- Chr15:40932396
| DLL4 | P267T | Adams-Oliver syndrome 6, Adams-Oliver syndrome | Conflicting interpretations of pathogenicity (Dec 1, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:41226439
- GRCh38:
- Chr15:40934241
| DLL4 | | not provided | Benign (Nov 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226521-41226522
- GRCh38:
- Chr15:40934323-40934324
| DLL4 | | not provided | Benign (Aug 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226522
- GRCh38:
- Chr15:40934324
| DLL4 | | not provided | Likely benign (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226770
- GRCh38:
- Chr15:40934572
| DLL4 | S292F | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr15:41226786
- GRCh38:
- Chr15:40934588
| DLL4 | | not provided | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226790
- GRCh38:
- Chr15:40934592
| DLL4 | T299A | not provided | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226792
- GRCh38:
- Chr15:40934594
| DLL4 | | not provided | Benign/Likely benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41226821
- GRCh38:
- Chr15:40934623
| DLL4 | T309I | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226832
- GRCh38:
- Chr15:40934634
| DLL4 | R313C | Inborn genetic diseases, not provided | Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41226833
- GRCh38:
- Chr15:40934635
| DLL4 | R313H | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Aug 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:41226844
- GRCh38:
- Chr15:40934646
| DLL4 | T317P | Adams-Oliver syndrome 6 | Likely pathogenic (Dec 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226864
- GRCh38:
- Chr15:40934666
| DLL4 | | not provided | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226873
- GRCh38:
- Chr15:40934675
| DLL4 | | not provided | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226874
- GRCh38:
- Chr15:40934676
| DLL4 | E327K | not provided | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226896
- GRCh38:
- Chr15:40934698
| DLL4 | R334H | not provided | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226900
- GRCh38:
- Chr15:40934702
| DLL4 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226929
- GRCh38:
- Chr15:40934731
| DLL4 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41226930
- GRCh38:
- Chr15:40934732
| DLL4 | | not provided | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41227050
- GRCh38:
- Chr15:40934852
| DLL4 | | not provided | Benign (Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41227100
- GRCh38:
- Chr15:40934902
| DLL4 | Q342R | not provided | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |