Department of Molecular Bıology and Genetics (Acibadem University), MOBGAM
General information
Personnel
- Furkan Buyukgol, Variant scientist/curator
Phone: 905350379728
Email: buyukgolfurkan@gmail.com - Eda Tahir Turanli, Principal Investigator
Phone: 90532246521
Email: edatahir@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 61
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAK1 | 1 | Jan 17, 2020 |
| ADAMTS14 | 1 | Jul 29, 2020 |
| AIPL1 | 1 | Jul 29, 2020 |
| ANKRD30B | 1 | Feb 18, 2020 |
| ARFGEF2 | 1 | Aug 10, 2020 |
| ARHGAP10 | 1 | Apr 6, 2020 |
| ASPA | 1 | Jul 29, 2020 |
| BCLAF1 | 2 | Aug 3, 2020 |
| BORCS6 | 1 | Jul 29, 2020 |
| CATSPERQ | 1 | Apr 6, 2020 |
| CCDST | 1 | Apr 6, 2020 |
| CD109 | 1 | Jan 6, 2025 |
| CRADD | 1 | Apr 23, 2020 |
| DCUN1D2 | 1 | Apr 6, 2020 |
| DNAAF11 | 1 | Feb 1, 2022 |
| DST | 7 | Jan 6, 2025 |
| FREM2 | 1 | Apr 6, 2020 |
| GNB5 | 1 | Jul 29, 2020 |
| GPR33 | 1 | Apr 6, 2020 |
| GRIP1 | 1 | Jul 29, 2020 |
| HRNR | 1 | Apr 6, 2020 |
| IDS | 1 | Apr 6, 2020 |
| ITGB4 | 1 | Jan 6, 2025 |
| ITPR1 | 1 | Jan 6, 2025 |
| LALTOP | 1 | May 22, 2020 |
| LAMA5 | 2 | Jan 6, 2025 |
| LAMB1 | 2 | Jan 6, 2025 |
| LSM10 | 1 | Aug 3, 2020 |
| MED23 | 1 | Aug 3, 2020 |
| MPC1 | 1 | Aug 3, 2020 |
| MYO18B | 1 | Jul 29, 2020 |
| OBSL1 | 1 | Apr 23, 2020 |
| ODAD1 | 1 | Jul 29, 2020 |
| PLEC | 9 | Jan 6, 2025 |
| PTCH1 | 1 | Jul 29, 2020 |
| RNF217 | 1 | Feb 1, 2022 |
| ROR2 | 1 | Aug 4, 2021 |
| RP1L1 | 1 | Apr 6, 2020 |
| SEH1L | 1 | Jan 17, 2020 |
| SPATA22 | 1 | Jul 29, 2020 |
| TLCD3A | 1 | Jul 29, 2020 |
| TPO | 2 | May 22, 2020 |
| USP44 | 1 | Apr 23, 2020 |
| VPS54 | 1 | Jan 17, 2020 |
| WDR81 | 1 | Jul 29, 2020 |
| ZXDA | 1 | Jul 29, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3M syndrome 2 | 1 | Apr 23, 2020 |
| Autosomal recessive Robinow syndrome | 1 | Aug 4, 2021 |
| Deficiency of iodide peroxidase | 2 | May 22, 2020 |
| Epidermolysis bullosa simplex with nail dystrophy | 10 | Apr 6, 2020 |
| Fraser syndrome 3 | 16 | Aug 3, 2020 |
| Moderate intellectual disability | 2 | Apr 23, 2020 |
| Multiple sclerosis | 22 | Jan 6, 2025 |
| Multiple sclerosis, susceptibility to | 2 | Feb 1, 2022 |
| Periventricular laminar heterotopia | 1 | Aug 10, 2020 |
| Tooth agenesis | 4 | Feb 18, 2020 |