Molecular Oncology - Human Genetics Lab (University of Sao Paulo)
General information
Personnel
- Talita Ferreira Marques Aguiar, Principal Investigator
Phone: +1 6465789412
Email: marquesaguiar@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 53
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| APC | 1 | Mar 8, 2022 |
| ATM | 2 | Mar 8, 2022 |
| BARD1 | 1 | Mar 8, 2022 |
| BIVM-ERCC5 | 1 | Mar 8, 2022 |
| BRCA2 | 2 | Mar 8, 2022 |
| C11orf65 | 1 | Mar 8, 2022 |
| COL7A1 | 2 | Mar 8, 2022 |
| DHCR7 | 2 | Mar 8, 2022 |
| DIS3L2 | 1 | Mar 8, 2022 |
| DOCK8 | 3 | Mar 8, 2022 |
| DROSHA | 1 | Mar 8, 2022 |
| EP300 | 1 | Mar 8, 2022 |
| ERCC2 | 1 | Mar 8, 2022 |
| ERCC5 | 1 | Mar 8, 2022 |
| EXT2 | 1 | Mar 8, 2022 |
| FAH | 1 | Mar 8, 2022 |
| FANCA | 1 | Mar 8, 2022 |
| FANCD2 | 2 | Mar 8, 2022 |
| FANCD2OS | 1 | Mar 8, 2022 |
| FANCM | 2 | Mar 8, 2022 |
| FAS | 1 | Mar 8, 2022 |
| FGFR3 | 1 | Mar 8, 2022 |
| FH | 1 | Mar 8, 2022 |
| FLCN | 1 | Mar 8, 2022 |
| FLNA | 1 | Mar 8, 2022 |
| FRMPD1 | 1 | Mar 8, 2022 |
| GBA1 | 1 | Mar 8, 2022 |
| GLI3 | 2 | Mar 8, 2022 |
| JMJD1C | 1 | Mar 8, 2022 |
| KDR | 1 | Mar 8, 2022 |
| LOC106627981 | 1 | Mar 8, 2022 |
| LOC107303338 | 1 | Mar 8, 2022 |
| MET | 1 | Mar 8, 2022 |
| MSH2 | 1 | Mar 8, 2022 |
| MSH6 | 1 | Mar 8, 2022 |
| MUTYH | 1 | Mar 8, 2022 |
| NDRG4 | 1 | Mar 8, 2022 |
| NYNRIN | 1 | Mar 8, 2022 |
| RECQL | 1 | Mar 8, 2022 |
| RECQL4 | 1 | Mar 8, 2022 |
| REN | 1 | Mar 8, 2022 |
| RHBDF2 | 1 | Mar 8, 2022 |
| RPS19 | 1 | Mar 8, 2022 |
| SH2B3 | 1 | Mar 8, 2022 |
| SLX4 | 1 | Mar 8, 2022 |
| TERT | 1 | Mar 8, 2022 |
| TGFBR2 | 1 | Mar 8, 2022 |
| VHL | 2 | Mar 8, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hepatoblastoma | 53 | Mar 8, 2022 |