Laboratory of Molecular Epidemiology of Birth Defects (West China Second University Hospital, Sichuan University)
General information
Personnel
- KaiYu Fu, Staff
Phone: (+86)15286504132
Email: fukaiyu@stu.scu.edu.cn - RuTie Yin, Medical Director
Phone: (+86) 028 8857 0403
Email: yrtt2013@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 601
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALK | 15 | Feb 28, 2023 |
| AOPEP | 5 | Feb 28, 2023 |
| APC | 21 | Feb 28, 2023 |
| AR | 16 | Feb 28, 2023 |
| ATM | 16 | Feb 28, 2023 |
| AXIN2 | 9 | Feb 28, 2023 |
| BARD1 | 9 | Feb 28, 2023 |
| BIVM-ERCC5 | 10 | Feb 28, 2023 |
| BLM | 11 | Feb 28, 2023 |
| BMPR1A | 1 | Feb 28, 2023 |
| BRCA1 | 12 | Feb 28, 2023 |
| BRCA2 | 26 | Feb 28, 2023 |
| BRIP1 | 5 | Feb 28, 2023 |
| BUB1B | 5 | Feb 28, 2023 |
| BUB1B-PAK6 | 1 | Feb 28, 2023 |
| C11orf65 | 9 | Feb 28, 2023 |
| C12orf43 | 1 | Feb 28, 2023 |
| CDC73 | 1 | Feb 28, 2023 |
| CDH1 | 6 | Feb 28, 2023 |
| CDK4 | 1 | Feb 28, 2023 |
| CDKN1B | 4 | Feb 28, 2023 |
| CDKN2A | 2 | Feb 28, 2023 |
| CYLD | 2 | Feb 28, 2023 |
| DDB2 | 1 | Feb 28, 2023 |
| DICER1 | 12 | Feb 28, 2023 |
| EGFR | 10 | Feb 28, 2023 |
| ELAC2 | 6 | Feb 28, 2023 |
| EPCAM | 1 | Feb 28, 2023 |
| ERCC2 | 4 | Feb 28, 2023 |
| ERCC3 | 7 | Feb 28, 2023 |
| ERCC4 | 7 | Feb 28, 2023 |
| ERCC5 | 10 | Feb 28, 2023 |
| EXT1 | 8 | Feb 28, 2023 |
| EXT2 | 7 | Feb 28, 2023 |
| FANCA | 10 | Feb 28, 2023 |
| FANCC | 5 | Feb 28, 2023 |
| FANCD2 | 9 | Feb 28, 2023 |
| FANCD2OS | 3 | Feb 28, 2023 |
| FANCE | 7 | Feb 28, 2023 |
| FANCF | 3 | Feb 28, 2023 |
| FANCG | 8 | Feb 28, 2023 |
| FH | 5 | Feb 28, 2023 |
| FLCN | 12 | Feb 28, 2023 |
| GPC3 | 1 | Feb 28, 2023 |
| HMMR | 4 | Feb 28, 2023 |
| HMMR-AS1 | 2 | Feb 28, 2023 |
| HNF1A | 3 | Feb 28, 2023 |
| HNF1B | 2 | Feb 28, 2023 |
| HRAS | 1 | Feb 28, 2023 |
| KIF1B | 2 | Feb 28, 2023 |
| KIT | 8 | Feb 28, 2023 |
| KLC1 | 2 | Feb 28, 2023 |
| LOC100507346 | 1 | Feb 28, 2023 |
| LOC107303338 | 6 | Feb 28, 2023 |
| LOC107982234 | 3 | Feb 28, 2023 |
| LOC109504725 | 1 | Feb 28, 2023 |
| LOC110011216 | 2 | Feb 28, 2023 |
| LOC126861205 | 1 | Feb 28, 2023 |
| LOC126861834 | 1 | Feb 28, 2023 |
| LOC126862571 | 1 | Feb 28, 2023 |
| LOC129390903 | 2 | Feb 28, 2023 |
| LOC129931243 | 1 | Feb 28, 2023 |
| LOC129937389 | 1 | Feb 28, 2023 |
| LOC129996245 | 2 | Feb 28, 2023 |
| LOC129999452 | 1 | Feb 28, 2023 |
| LOC130058543 | 1 | Feb 28, 2023 |
| LRRC56 | 1 | Feb 28, 2023 |
| MEN1 | 1 | Feb 28, 2023 |
| MET | 7 | Feb 28, 2023 |
| MLH1 | 5 | Feb 28, 2023 |
| MLH3 | 10 | Feb 28, 2023 |
| MRE11 | 5 | Feb 28, 2023 |
| MSH2 | 7 | Feb 28, 2023 |
| MSH6 | 14 | Feb 28, 2023 |
| MSR1 | 8 | Feb 28, 2023 |
| MUTYH | 1 | Feb 28, 2023 |
| MXI1 | 3 | Feb 28, 2023 |
| NBN | 4 | Feb 28, 2023 |
| NF1 | 5 | Feb 28, 2023 |
| NQO2 | 1 | Feb 28, 2023 |
| NTRK1 | 3 | Feb 28, 2023 |
| PALB2 | 7 | Feb 28, 2023 |
| PDGFRA | 11 | Feb 28, 2023 |
| PHB1 | 1 | Feb 28, 2023 |
| PHOX2B | 3 | Feb 28, 2023 |
| PKD1 | 1 | Feb 28, 2023 |
| PMS1 | 8 | Feb 28, 2023 |
| PMS2 | 10 | Feb 28, 2023 |
| PPM1D | 1 | Feb 28, 2023 |
| PTCH1 | 12 | Feb 28, 2023 |
| PTEN | 1 | Feb 28, 2023 |
| RAD50 | 10 | Feb 28, 2023 |
| RAD51 | 1 | Feb 28, 2023 |
| RAD51C | 6 | Feb 28, 2023 |
| RB1 | 6 | Feb 28, 2023 |
| RECQL4 | 26 | Feb 28, 2023 |
| RET | 14 | Feb 28, 2023 |
| RNASEL | 5 | Feb 28, 2023 |
| SDHAF2 | 3 | Feb 28, 2023 |
| SDHB | 3 | Feb 28, 2023 |
| SDHC | 1 | Feb 28, 2023 |
| SLC49A4 | 3 | Feb 28, 2023 |
| SMARCB1 | 1 | Feb 28, 2023 |
| STK11 | 3 | Feb 28, 2023 |
| TH2-LCR | 2 | Feb 28, 2023 |
| TH2LCRR | 5 | Feb 28, 2023 |
| TMEM127 | 2 | Feb 28, 2023 |
| TRIM24 | 5 | Feb 28, 2023 |
| TRIM33 | 4 | Feb 28, 2023 |
| TSC1 | 8 | Feb 28, 2023 |
| TSC2 | 18 | Feb 28, 2023 |
| TSHR | 10 | Feb 28, 2023 |
| TSHR-AS1 | 10 | Feb 28, 2023 |
| TSPAN31 | 1 | Feb 28, 2023 |
| VHL | 2 | Feb 28, 2023 |
| WRN | 13 | Feb 28, 2023 |
| WT1 | 4 | Feb 28, 2023 |
| XPA | 2 | Feb 28, 2023 |
| XPC | 5 | Feb 28, 2023 |
| XRCC3 | 3 | Feb 28, 2023 |
| ZNF276 | 2 | Feb 28, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ovarian cancer | 601 | Feb 28, 2023 |