Molecular ImmunoRheumatology UMRS_1109 (Institut national de la santé et de la recherche médicale)
General information
Personnel
- Raphael Carapito, Principal Investigator
Phone: 0033368853994
Email: carapito@unistra.fr
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 28
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AFF1 | 1 | Apr 12, 2023 |
| ARHGEF10L | 1 | Apr 12, 2023 |
| CHD2 | 1 | Apr 12, 2023 |
| CREB3L1 | 1 | Apr 12, 2023 |
| CREBBP | 2 | Apr 12, 2023 |
| DDX6 | 1 | Apr 12, 2023 |
| EPAS1 | 1 | Apr 12, 2023 |
| ERBB4 | 1 | Apr 12, 2023 |
| ETNK1 | 1 | Apr 12, 2023 |
| FLT4 | 1 | Apr 12, 2023 |
| IDH2 | 1 | Apr 12, 2023 |
| IKZF1 | 1 | Apr 12, 2023 |
| KDR | 1 | Apr 12, 2023 |
| KRAS | 1 | Apr 12, 2023 |
| LATS1 | 1 | Apr 12, 2023 |
| LOC126862230 | 1 | Apr 12, 2023 |
| PABPC1 | 1 | Apr 12, 2023 |
| POLQ | 1 | Apr 12, 2023 |
| RABEP1 | 1 | Apr 12, 2023 |
| SETD2 | 1 | Apr 12, 2023 |
| SLC45A3 | 1 | Apr 12, 2023 |
| SND1 | 1 | Apr 12, 2023 |
| SRP54 | 3 | Jul 19, 2017 |
| SSX1 | 1 | Apr 12, 2023 |
| SUZ12 | 1 | Apr 12, 2023 |
| TRRAP | 1 | Apr 12, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Shwachman-Diamond syndrome 1 | 3 | Jul 19, 2017 |
| Teratoma | 25 | Apr 12, 2023 |