Bioinformatics Core (Luxembourg Center for Systems Biomedicine)
General information
Personnel
- Dheeraj Bobbili, Staff
Phone: 00352 46 66 44 6776
Email: dheeraj.bobbili@uni.lu - DHEERAJ BOBBILI, Staff
Phone: 00352 46 66 44 6776
Email: dheeraj.bobbili@uni.lu
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 111
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARFGEF1-DT | 1 | Aug 9, 2017 |
| ASAH1 | 3 | Aug 9, 2017 |
| CHD2 | 4 | Aug 9, 2017 |
| CNTNAP2 | 6 | Aug 9, 2017 |
| CPA6 | 3 | Aug 9, 2017 |
| CSTB | 1 | Aug 9, 2017 |
| DEPDC5 | 11 | Aug 9, 2017 |
| EPM2A | 1 | Aug 9, 2017 |
| GABRG2 | 3 | Aug 9, 2017 |
| GRIN1 | 1 | Aug 9, 2017 |
| GRIN2A | 12 | Aug 9, 2017 |
| IER3IP1 | 1 | Aug 9, 2017 |
| KCNQ3 | 4 | Aug 9, 2017 |
| KCNT1 | 1 | Aug 9, 2017 |
| LOC102724058 | 1 | Aug 9, 2017 |
| LOC102724428 | 1 | Aug 9, 2017 |
| LOC126805704 | 1 | Aug 9, 2017 |
| LOC126862279 | 1 | Aug 9, 2017 |
| MAF | 1 | Aug 9, 2017 |
| PCDH19 | 1 | Aug 9, 2017 |
| PLCB1 | 1 | Aug 9, 2017 |
| PRICKLE1 | 3 | Aug 9, 2017 |
| PRICKLE2 | 1 | Aug 9, 2017 |
| RBFOX1 | 4 | Aug 9, 2017 |
| RBFOX3 | 1 | Aug 9, 2017 |
| RELN | 8 | Aug 9, 2017 |
| SCARB2 | 2 | Aug 9, 2017 |
| SCN1A | 2 | Aug 9, 2017 |
| SCN1A-AS1 | 5 | Aug 9, 2017 |
| SCN1B | 1 | Aug 9, 2017 |
| SCN2A | 2 | Aug 9, 2017 |
| SCN9A | 5 | Aug 9, 2017 |
| SLC26A5-AS1 | 3 | Aug 9, 2017 |
| SLC2A1 | 1 | Aug 9, 2017 |
| SLC6A1 | 1 | Aug 9, 2017 |
| SNIP1 | 1 | Aug 9, 2017 |
| SPTAN1 | 7 | Aug 9, 2017 |
| STRADA | 3 | Aug 9, 2017 |
| SZT2 | 11 | Aug 9, 2017 |
| TBC1D24 | 1 | Aug 9, 2017 |
| WWOX | 3 | Aug 9, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Self-limited epilepsy with centrotemporal spikes | 111 | Aug 9, 2017 |