| - GRCh37:
- Chr11:65116392-65116393
- GRCh38:
- Chr11:65348921-65348922
| DPF2 | | Coffin-Siris syndrome 7 | Likely pathogenic
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65108446
- GRCh38:
- Chr11:65340975
| DPF2 | S68Y | Coffin-Siris syndrome 7 | Uncertain significance
(Apr 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65108965
- GRCh38:
- Chr11:65341494
| DPF2 | A133P | Coffin-Siris syndrome 7 | Uncertain significance
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65116370
- GRCh38:
- Chr11:65348899
| DPF2 | C356S, C370S | Coffin-Siris syndrome 7 | Likely pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65111258
- GRCh38:
- Chr11:65343787
| DPF2 | E170Q | Coffin-Siris syndrome 7 | Uncertain significance
(Mar 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65119223
- GRCh38:
- Chr11:65351752
| DPF2 | S390Y, S404Y | Coffin-Siris syndrome 7, not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| | DPF2 | | Coffin-Siris syndrome 7 | Likely pathogenic
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65108859
- GRCh38:
- Chr11:65341388
| DPF2 | | Coffin-Siris syndrome 7, not provided | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65113469
- GRCh38:
- Chr11:65345998
| DPF2 | I282F, I296F | Coffin-Siris syndrome 7 | Uncertain significance
(Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65116348
- GRCh38:
- Chr11:65348877
| DPF2 | D349H, D363H | Coffin-Siris syndrome 7 | Uncertain significance
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65113525
- GRCh38:
- Chr11:65346054
| DPF2 | | Coffin-Siris syndrome 7 | Uncertain significance
(Nov 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65116369
- GRCh38:
- Chr11:65348898
| DPF2 | C356G, C370G | Coffin-Siris syndrome 7 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr11:65113549
- GRCh38:
- Chr11:65346078
| DPF2 | | Coffin-Siris syndrome 7 | Uncertain significance
(May 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65108932
- GRCh38:
- Chr11:65341461
| DPF2 | L122V | Coffin-Siris syndrome 7 | Uncertain significance
(Mar 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65116403
- GRCh38:
- Chr11:65348932
| DPF2 | | Coffin-Siris syndrome 7 | Pathogenic
(Jun 28, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:65116340
- GRCh38:
- Chr11:65348869
| DPF2 | D346G, D360G | Coffin-Siris syndrome 7 | Pathogenic
(Jun 28, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:65116352
- GRCh38:
- Chr11:65348881
| DPF2 | R350H, R364H | Inborn genetic diseases | Likely pathogenic
(Feb 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65113803
- GRCh38:
- Chr11:65346332
| DPF2 | C330W, C344W | Coffin-Siris syndrome 7 | Pathogenic
(Jun 28, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:65113452
- GRCh38:
- Chr11:65345981
| DPF2 | C276F, C290F | Coffin-Siris syndrome 1 | Pathogenic
(Sep 14, 2017) | criteria provided, single submitter |