Laboratory of Prof. Karen Avraham (Tel Aviv University)
General information
Personnel
- Zippi Brownstein, Contact
Phone: 972-3-6406417
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 221
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADGRV1 | 4 | Aug 21, 2024 |
| AIFM1 | 1 | Jun 24, 2024 |
| ALMS1 | 1 | Jun 24, 2024 |
| ANKH | 1 | Sep 23, 2024 |
| ANKRD36 | 2 | Mar 8, 2020 |
| ATOH1 | 1 | Nov 24, 2019 |
| ATP11A | 1 | Dec 9, 2021 |
| ATP2B2 | 2 | Jun 24, 2024 |
| ATP6V1B1 | 1 | Jun 24, 2024 |
| B3GNT4 | 1 | Jun 24, 2024 |
| BDP1 | 1 | Jun 24, 2024 |
| CABP2 | 2 | Mar 8, 2020 |
| CDH23 | 1 | May 3, 2016 |
| CEACAM16 | 2 | Jun 24, 2024 |
| CEACAM16-AS1 | 2 | Jun 24, 2024 |
| CHD7 | 2 | Jun 24, 2024 |
| CIB2 | 1 | Feb 4, 2021 |
| CLDN9 | 1 | Jun 24, 2024 |
| CLPP | 2 | Nov 24, 2019 |
| COCH | 2 | Nov 24, 2019 |
| COL11A1 | 2 | Aug 6, 2024 |
| COL11A2 | 2 | Nov 24, 2019 |
| COL4A3 | 6 | Sep 20, 2024 |
| COL4A5 | 1 | Jun 24, 2024 |
| COL4A6 | 3 | Sep 20, 2024 |
| DIABLO | 2 | Jun 24, 2024 |
| DIAPH1 | 1 | Jun 24, 2024 |
| DM1-AS | 1 | Jun 24, 2024 |
| DMXL2 | 2 | Jun 24, 2024 |
| EYA4 | 4 | Jun 24, 2024 |
| FGFR1 | 2 | Jun 24, 2024 |
| GATA3 | 2 | Nov 24, 2019 |
| GJB2 | 4 | Nov 25, 2024 |
| GJB3 | 3 | Jun 24, 2024 |
| GRIN2D | 1 | Jan 12, 2021 |
| KMT2D | 2 | Jun 24, 2024 |
| LOC100130744 | 1 | Sep 23, 2024 |
| LOC100506071 | 2 | Nov 24, 2019 |
| LOC105371566 | 5 | Aug 21, 2024 |
| LOC105378311 | 1 | Nov 24, 2019 |
| LOC107075317 | 1 | Jun 24, 2024 |
| LOC111982869 | 1 | May 3, 2016 |
| LOC126861365 | 2 | Jun 24, 2024 |
| LOC130063288 | 1 | Nov 24, 2019 |
| LOC130064857 | 1 | Jan 12, 2021 |
| LOXHD1 | 7 | Aug 21, 2024 |
| LRP2 | 1 | Jun 24, 2024 |
| MAN2B1 | 1 | Jun 24, 2024 |
| MFF-DT | 6 | Sep 20, 2024 |
| MITF | 4 | Aug 21, 2024 |
| MT-ND1 | 1 | Jun 24, 2024 |
| MT-TL1 | 1 | Jun 24, 2024 |
| MYH14 | 6 | Jun 24, 2024 |
| MYH9 | 3 | Jun 24, 2024 |
| MYO15A | 20 | Aug 21, 2024 |
| MYO3A | 1 | Jun 24, 2024 |
| MYO6 | 4 | Mar 8, 2020 |
| MYO7A | 9 | Aug 21, 2024 |
| NOG | 1 | Jun 24, 2024 |
| OPA1 | 3 | Jun 24, 2024 |
| OTOF | 1 | May 3, 2016 |
| OTULIN | 1 | Sep 23, 2024 |
| PCDH15 | 7 | Aug 21, 2024 |
| PDE1C | 2 | Jun 24, 2024 |
| PKD1L2 | 1 | Jun 24, 2024 |
| POLR1B | 1 | Jun 24, 2024 |
| POLR2F | 1 | Nov 27, 2024 |
| POU3F4 | 3 | Jun 24, 2024 |
| RAB33A | 1 | Jun 24, 2024 |
| RAI1 | 2 | Jun 24, 2024 |
| SEMA3E | 2 | Jun 24, 2024 |
| SIX1 | 3 | Nov 25, 2024 |
| SIX5 | 1 | Jun 24, 2024 |
| SLC17A8 | 1 | Jun 24, 2024 |
| SLC26A4 | 8 | Jun 24, 2024 |
| SLC26A5 | 1 | Jun 24, 2024 |
| SOX10 | 1 | Nov 27, 2024 |
| STRC | 5 | Jun 24, 2024 |
| SYNE4 | 1 | May 3, 2016 |
| TARID | 2 | Jun 24, 2024 |
| TBC1D24 | 1 | May 3, 2016 |
| TBCEL-TECTA | 8 | Jun 24, 2024 |
| TCOF1 | 1 | Jun 24, 2024 |
| TECTA | 8 | Jun 24, 2024 |
| TJP2 | 6 | Jun 24, 2024 |
| TMC1 | 7 | May 3, 2016 |
| TMPRSS3 | 2 | Jun 24, 2024 |
| TNC | 3 | Jun 24, 2024 |
| USH1C | 2 | Jun 24, 2024 |
| USH1G | 1 | Jun 24, 2024 |
| USH2A | 6 | Aug 21, 2024 |
| USH2A-AS1 | 1 | May 3, 2016 |
| WFS1 | 15 | Aug 21, 2024 |
| WHRN | 2 | Aug 21, 2024 |