Department of Molecular Bıology and Genetics (Istanbul Technical University)
General information
Personnel
- Aslihan Tolun, Principal Investigator
Phone: 00905334330377
Email: tolun@boun.edu.tr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 39
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 |
CCDST | 1 | Apr 6, 2020 |
CRADD | 1 | Apr 23, 2020 |
DCUN1D2 | 1 | Apr 6, 2020 |
DNAAF11 | 1 | Feb 1, 2022 |
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 |
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 | 1 | Mar 25, 2020 |
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 |
TMEM249 | 1 | Apr 6, 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 |
Intellectual disability, moderate | 2 | Apr 23, 2020 |
Multiple sclerosis, susceptibility to | 2 | Feb 1, 2022 |
Periventricular laminar heterotopia | 1 | Aug 10, 2020 |
Tooth agenesis | 4 | Feb 18, 2020 |