Faculty of Health Sciences (Beirut Arab University)
General information
Faculty of Health Sciences
Beirut Arab University
Beirut
Lebanon - 115020
https://www.bau.edu.lb/
Organization ID: 507726
Beirut Arab University
Beirut
Lebanon - 115020
https://www.bau.edu.lb/
Organization ID: 507726
Personnel
- Said El Shamieh, Principal Investigator
Phone: 00961-71003346
Email: [email protected] - Lama Jaffal, Staff
Phone: 00961-70212167
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 140
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCA4 | 11 | Sep 2, 2020 |
ADGRA3 | 1 | Sep 2, 2020 |
ADGRV1 | 1 | Feb 12, 2022 |
AGBL5 | 1 | Sep 2, 2020 |
ARL2BP | 2 | Sep 2, 2020 |
ARL6 | 2 | Sep 2, 2020 |
BBS2 | 1 | Sep 2, 2020 |
CDH23 | 1 | Feb 12, 2022 |
CERKL | 6 | Sep 2, 2020 |
CFAP418 | 1 | Sep 2, 2020 |
CLRN1 | 2 | Feb 12, 2022 |
CNGB1 | 3 | Sep 2, 2020 |
CRB1 | 11 | Sep 2, 2020 |
CRX | 3 | Sep 2, 2020 |
EMC1 | 1 | Sep 2, 2020 |
EYS | 5 | Sep 2, 2020 |
FAM161A | 3 | Sep 2, 2020 |
IMPG2 | 7 | Sep 2, 2020 |
LOC126805793 | 1 | Sep 2, 2020 |
LOC126860392 | 1 | Sep 2, 2020 |
LOC129935214 | 1 | Sep 2, 2020 |
LOC130068202 | 1 | Sep 2, 2020 |
LRAT | 2 | Sep 2, 2020 |
MERTK | 12 | Sep 2, 2020 |
NR2E3 | 2 | Sep 2, 2020 |
PCARE | 5 | Sep 2, 2020 |
PCDH15 | 1 | Feb 12, 2022 |
PDE6A | 2 | Sep 2, 2020 |
PDE6B | 5 | Sep 2, 2020 |
PDE6B-AS1 | 3 | Sep 2, 2020 |
PROM1 | 4 | Sep 2, 2020 |
PRPF8 | 1 | Sep 2, 2020 |
RBP3 | 1 | Sep 2, 2020 |
REEP6 | 1 | Sep 2, 2020 |
RLBP1 | 4 | Sep 2, 2020 |
RP1 | 11 | Sep 2, 2020 |
RP1L1 | 2 | Sep 2, 2020 |
RP2 | 2 | Sep 2, 2020 |
RPE65 | 9 | Sep 2, 2020 |
SNRNP200 | 2 | Sep 2, 2020 |
SPATA7 | 1 | Sep 2, 2020 |
TULP1 | 3 | Sep 2, 2020 |
USH2A | 7 | Feb 12, 2022 |
USH2A-AS1 | 1 | Sep 2, 2020 |
USH2A-AS2 | 1 | Sep 2, 2020 |
ZNF408 | 1 | Sep 2, 2020 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Autosomal dominant retinitis pigmentosa | 6 | Sep 2, 2020 |
Autosomal recessive retinitis pigmentosa | 126 | Sep 2, 2020 |
Usher syndrome | 6 | Feb 12, 2022 |
X-linked retinitis pigmentosa | 2 | Sep 2, 2020 |