Beijing Key Laboratory for Genetic Research of Skeletal Deformity (Peking Union Medical College Hospital), DISCO-PUMCH
General information
Personnel
- Nan Wu, Administrator
Phone: 15810935917
Email: dr.wunan@pumch.cn - Sen Zhao, Staff
Phone: +8615810935917
Email: zhaosen830@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 155
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACAN | 3 | Jan 21, 2021 |
| AMMECR1 | 1 | Jan 21, 2021 |
| ANKRD11 | 2 | Jan 21, 2021 |
| AQP2 | 1 | Jan 21, 2021 |
| ARID1B | 1 | Jan 21, 2021 |
| ASPM | 1 | Jan 21, 2021 |
| ASXL1 | 2 | Jan 21, 2021 |
| AVPR2 | 1 | Jan 21, 2021 |
| BLM | 3 | Jan 21, 2021 |
| CDH2 | 1 | Feb 19, 2018 |
| COL10A1 | 1 | Jan 21, 2021 |
| COL11A1 | 2 | Jan 21, 2021 |
| COL2A1 | 2 | Jan 21, 2021 |
| COL6A3 | 1 | Jan 21, 2021 |
| COMP | 2 | Jan 21, 2021 |
| CTCF | 1 | Jan 21, 2021 |
| CUL7 | 3 | Jan 21, 2021 |
| DMD | 1 | Jan 21, 2021 |
| EGFR | 1 | Feb 19, 2018 |
| ENG | 1 | Feb 19, 2018 |
| ERCC6 | 1 | Jan 21, 2021 |
| EVC | 1 | Jan 21, 2021 |
| EXT1 | 1 | Jan 21, 2021 |
| FBN1 | 12 | Jan 21, 2021 |
| FGFR1 | 1 | Jan 21, 2021 |
| FGFR3 | 2 | Jan 21, 2021 |
| GALNS | 1 | Jan 21, 2021 |
| GH-LCR | 2 | Jan 21, 2021 |
| GH1 | 2 | Jan 21, 2021 |
| GHRHR | 2 | Jan 21, 2021 |
| GNPTAB | 1 | Jan 21, 2021 |
| IDS | 3 | Jan 21, 2021 |
| IGF1R | 1 | Jan 21, 2021 |
| IL17RD | 1 | Feb 19, 2018 |
| KMT2A | 1 | Jan 21, 2021 |
| LEMD3 | 1 | Feb 19, 2018 |
| LOC106050102 | 1 | Jan 21, 2021 |
| LOC123956210 | 1 | Jan 21, 2021 |
| LOC126807619 | 1 | Jan 21, 2021 |
| LOC126861318 | 1 | Jan 21, 2021 |
| LOC130060295 | 1 | Sep 13, 2021 |
| MAP2K1 | 1 | Jan 21, 2021 |
| MAP4K4 | 1 | Feb 19, 2018 |
| MMP13 | 1 | Jan 21, 2021 |
| MYH3 | 10 | Sep 13, 2021 |
| NF1 | 6 | Jan 21, 2021 |
| NPR2 | 2 | Jan 21, 2021 |
| NR0B1 | 2 | Jan 21, 2021 |
| NRIP3-DT | 1 | Feb 19, 2018 |
| NSD1 | 1 | Jan 21, 2021 |
| NT5DC1 | 1 | Jan 21, 2021 |
| OBSL1 | 1 | Jan 21, 2021 |
| OFD1 | 2 | Jan 21, 2021 |
| ORC1 | 1 | Jan 21, 2021 |
| PHEX | 3 | Jan 21, 2021 |
| PIEZO2 | 1 | Jan 21, 2021 |
| PITPNM3 | 1 | Feb 19, 2018 |
| PLA2G6 | 1 | Jan 21, 2021 |
| PORCN | 1 | Jan 21, 2021 |
| POU1F1 | 2 | Jan 21, 2021 |
| PREX2 | 1 | Feb 19, 2018 |
| PTPN11 | 7 | Jan 21, 2021 |
| RAF1 | 2 | Jan 21, 2021 |
| RECQL4 | 1 | Jan 21, 2021 |
| RIT1 | 1 | Jan 21, 2021 |
| ROR2 | 12 | Mar 3, 2021 |
| SARS1 | 1 | Feb 19, 2018 |
| SCUBE2 | 1 | Feb 19, 2018 |
| SETD5 | 1 | Jan 21, 2021 |
| SLC26A4 | 1 | Jan 21, 2021 |
| SLC7A7 | 1 | Jan 21, 2021 |
| SOS2 | 1 | Jan 21, 2021 |
| SPRED1 | 1 | Jan 21, 2021 |
| SRCAP | 2 | Jan 21, 2021 |
| SRD5A2 | 1 | Jan 21, 2021 |
| STAT5B | 1 | Jan 21, 2021 |
| SUCLG1 | 1 | Jan 21, 2021 |
| SYN3 | 1 | Feb 19, 2018 |
| TBX6 | 13 | Aug 13, 2019 |
| TIMP3 | 1 | Feb 19, 2018 |
| TINF2 | 1 | Jan 21, 2021 |
| TMEM67 | 1 | Jan 21, 2021 |
| TRAPPC2 | 1 | Jan 21, 2021 |
| TRPS1 | 1 | Jan 21, 2021 |
| VPS13B | 1 | Jan 21, 2021 |
| ZFYVE16 | 1 | Feb 19, 2018 |
| ZMYND11 | 1 | Jan 21, 2021 |