Institute Of Reproduction And Development (Obstetrics and Gynecology Hospital, Fudan University)
General information
Personnel
- Jinglan Zhang, Principal Investigator
Phone: 18086614690
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COL1A1 | 1 | Mar 13, 2023 |
| COL1A2 | 2 | Mar 13, 2023 |
| COL2A1 | 4 | Mar 13, 2023 |
| EBP | 1 | Mar 13, 2023 |
| EPHB4 | 1 | Mar 13, 2023 |
| FGFR2 | 2 | Mar 13, 2023 |
| FGFR3 | 7 | Mar 13, 2023 |
| HRAS | 2 | Mar 13, 2023 |
| KMT2D | 2 | Mar 13, 2023 |
| KRAS | 1 | Mar 13, 2023 |
| LRRC56 | 2 | Mar 13, 2023 |
| NRAS | 1 | Mar 13, 2023 |
| NSD1 | 1 | Mar 13, 2023 |
| PTPN11 | 2 | Mar 13, 2023 |
| SMAD4 | 1 | Mar 13, 2023 |
| SOS1 | 1 | Mar 13, 2023 |
| TSC2 | 1 | Mar 13, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Achondroplasia | 1 | Mar 13, 2023 |
| Acrocephalosyndactyly type I | 1 | Mar 13, 2023 |
| Capillary malformation-arteriovenous malformation 2 | 1 | Mar 13, 2023 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Mar 13, 2023 |
| Costello syndrome | 2 | Mar 13, 2023 |
| Kabuki syndrome 1 | 2 | Mar 13, 2023 |
| Myhre syndrome | 1 | Mar 13, 2023 |
| Noonan syndrome 1 | 2 | Mar 13, 2023 |
| Noonan syndrome 3 | 1 | Mar 13, 2023 |
| Noonan syndrome 4 | 1 | Mar 13, 2023 |
| Noonan syndrome 6 | 1 | Mar 13, 2023 |
| Pfeiffer syndrome | 1 | Mar 13, 2023 |
| See cases | 13 | Mar 13, 2023 |
| Sotos syndrome | 1 | Mar 13, 2023 |
| Tuberous sclerosis 2 | 1 | Mar 13, 2023 |