Institute of Rare Diseases (West China Hospital, Sichuan University)
General information
Personnel
- Huijun Yuan, Principal Investigator
Phone: +8613522991385
Email: yuanhj301@163.com - Mingjun Zhong, Variant scientist/curator
Phone: +8618323326099
Email: zhongmingjun@wchscu.edu.cn
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1029
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABHD12 | 1 | Jan 24, 2025 |
| ACTG1 | 2 | Jan 24, 2025 |
| ADGRV1 | 5 | Jan 24, 2025 |
| AIFM1 | 5 | Jan 24, 2025 |
| ANAPC15 | 5 | Jan 24, 2025 |
| ATP6V1B2 | 2 | Jan 24, 2025 |
| BCS1L | 1 | Jan 24, 2025 |
| C10orf105 | 5 | Jan 24, 2025 |
| CCDC140 | 2 | Jan 24, 2025 |
| CDH23 | 67 | Jan 24, 2025 |
| CDH23-AS1 | 1 | Jan 24, 2025 |
| CHD7 | 6 | Jan 24, 2025 |
| CIB2 | 7 | Jan 24, 2025 |
| CLDN14 | 4 | Jan 24, 2025 |
| CLDN14-AS1 | 4 | Jan 24, 2025 |
| CLIC5 | 1 | Jan 24, 2025 |
| CLPP | 3 | Jan 24, 2025 |
| CLRN1 | 5 | Jan 24, 2025 |
| COCH | 6 | Jan 24, 2025 |
| COL11A2 | 7 | Jan 24, 2025 |
| COL1A1 | 4 | Jan 24, 2025 |
| COL4A3 | 1 | Jan 24, 2025 |
| COL4A5 | 1 | Jan 24, 2025 |
| DIABLO | 1 | Jan 24, 2025 |
| EDNRB | 2 | Jan 24, 2025 |
| EPS8 | 5 | Jan 24, 2025 |
| EPS8L2 | 5 | Jan 24, 2025 |
| ESPN | 2 | Jan 24, 2025 |
| ESRRB | 3 | Jan 24, 2025 |
| EYA1 | 27 | Jan 24, 2025 |
| EYA4 | 8 | Jan 24, 2025 |
| FGF3 | 5 | Jan 24, 2025 |
| GATA3 | 5 | Jan 24, 2025 |
| GIPC3 | 6 | Jan 24, 2025 |
| GJB2 | 10 | Jan 24, 2025 |
| GREB1L | 9 | Jan 24, 2025 |
| GREB1L-AS1 | 4 | Jan 24, 2025 |
| GRHL2 | 2 | Jan 24, 2025 |
| GRXCR1 | 2 | Jan 24, 2025 |
| GRXCR2 | 1 | Jan 24, 2025 |
| HARS2 | 4 | Jan 24, 2025 |
| HOMER2 | 1 | Jan 24, 2025 |
| ILDR1 | 6 | Jan 24, 2025 |
| KCNE1 | 1 | Jan 24, 2025 |
| KCNQ1 | 1 | Jan 24, 2025 |
| KCNQ4 | 2 | Jan 24, 2025 |
| LARS2 | 9 | Jan 24, 2025 |
| LARS2-AS1 | 5 | Jan 24, 2025 |
| LHFPL5 | 4 | Jan 24, 2025 |
| LMX1A | 1 | Jan 24, 2025 |
| LOC100506071 | 6 | Jan 24, 2025 |
| LOC105371566 | 4 | Jan 24, 2025 |
| LOC107980445 | 1 | Jan 24, 2025 |
| LOC109115964 | 2 | Jan 24, 2025 |
| LOC111982869 | 6 | Jan 24, 2025 |
| LOC112840921 | 5 | Jan 24, 2025 |
| LOC123956210 | 3 | Jan 24, 2025 |
| LOC126806529 | 3 | Jan 24, 2025 |
| LOC126859796 | 1 | Jan 24, 2025 |
| LOC126861365 | 1 | Jan 24, 2025 |
| LOC126863008 | 1 | Jan 24, 2025 |
| LOC129933334 | 1 | Jan 24, 2025 |
| LOC129933336 | 1 | Jan 24, 2025 |
| LOC130003278 | 1 | Jan 24, 2025 |
| LOC130060418 | 3 | Jan 24, 2025 |
| LOXHD1 | 18 | Jan 24, 2025 |
| LRTOMT | 10 | Jan 24, 2025 |
| MARVELD2 | 14 | Jan 24, 2025 |
| MFF-DT | 1 | Jan 24, 2025 |
| MITF | 40 | Jan 24, 2025 |
| MPZL2 | 2 | Jan 24, 2025 |
| MSRB3 | 2 | Jan 24, 2025 |
| MYO15A | 154 | Jan 24, 2025 |
| MYO3A | 3 | Jan 24, 2025 |
| MYO6 | 6 | Jan 24, 2025 |
| MYO7A | 69 | Jan 24, 2025 |
| OTOA | 3 | Jan 24, 2025 |
| OTOF | 46 | Jan 24, 2025 |
| OTOG | 1 | Jan 24, 2025 |
| OTOGL | 5 | Jan 24, 2025 |
| PAX3 | 31 | Jan 24, 2025 |
| PCDH15 | 31 | Jan 24, 2025 |
| PDZD7 | 2 | Jan 24, 2025 |
| PEX6 | 1 | Jan 24, 2025 |
| PJVK | 5 | Jan 24, 2025 |
| POLR2F | 61 | Jan 24, 2025 |
| POU3F4 | 46 | Jan 24, 2025 |
| POU4F3 | 11 | Jan 24, 2025 |
| PRPS1 | 2 | Jan 24, 2025 |
| PTPRQ | 7 | Jan 24, 2025 |
| RAB33A | 5 | Jan 24, 2025 |
| RBM27-POU4F3 | 11 | Jan 24, 2025 |
| SLC12A2 | 4 | Feb 5, 2025 |
| SLC26A4 | 75 | Jan 24, 2025 |
| SLC26A4-AS1 | 5 | Jan 24, 2025 |
| SMPX | 2 | Jan 24, 2025 |
| SOX10 | 61 | Jan 24, 2025 |
| STRC | 2 | Jan 24, 2025 |
| TARID | 3 | Jan 24, 2025 |
| TBC1D24 | 5 | Jan 24, 2025 |
| TBCEL-TECTA | 8 | Jan 24, 2025 |
| TCOF1 | 1 | Jan 24, 2025 |
| TECTA | 8 | Jan 24, 2025 |
| TIMM8A | 6 | Jan 24, 2025 |
| TMC1 | 42 | Jan 24, 2025 |
| TMIE | 2 | Jan 24, 2025 |
| TMPRSS3 | 12 | Jan 24, 2025 |
| TOMT | 10 | Jan 24, 2025 |
| TPRN | 1 | Jan 24, 2025 |
| TRIOBP | 13 | Jan 24, 2025 |
| TWNK | 3 | Jan 24, 2025 |
| USH1C | 13 | Jan 24, 2025 |
| USH1G | 7 | Jan 24, 2025 |
| USH2A | 10 | Jan 24, 2025 |
| USH2A-AS1 | 1 | Jan 24, 2025 |
| WFS1 | 1 | Jan 24, 2025 |
| WHRN | 2 | Jan 24, 2025 |