Vision Research Foundation
Personnel
- Sripriya Sarangapani, Principal Investigator
Phone: 9444168395
Email: drss@snmail.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 227
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADGRV1 | 7 | May 13, 2023 |
| ALMS1 | 3 | Apr 18, 2023 |
| ARL6 | 2 | Jun 2, 2023 |
| ARL6IP6 | 1 | Apr 18, 2023 |
| ASTN2 | 2 | Jun 2, 2023 |
| BBS1 | 7 | Nov 22, 2023 |
| BBS10 | 15 | Jun 2, 2023 |
| BBS12 | 11 | Jun 2, 2023 |
| BBS2 | 4 | Jun 2, 2023 |
| BBS4 | 2 | Apr 12, 2023 |
| BBS5 | 6 | Jun 2, 2023 |
| BBS7 | 5 | Jun 2, 2023 |
| BBS9 | 3 | Jun 2, 2023 |
| C10orf105 | 1 | May 13, 2023 |
| C1QTNF5 | 5 | Feb 28, 2012 |
| CABP4 | 1 | May 13, 2023 |
| CACNG2-DT | 1 | Apr 18, 2023 |
| CCDC40 | 1 | May 13, 2023 |
| CDH23 | 12 | May 13, 2023 |
| CDKL5 | 7 | Feb 28, 2013 |
| CLRN1 | 1 | May 13, 2023 |
| COL4A4 | 1 | May 13, 2023 |
| COMT | 1 | Apr 18, 2023 |
| DGKQ | 1 | May 13, 2023 |
| FMC1 | 1 | May 13, 2023 |
| FMC1-LUC7L2 | 1 | May 13, 2023 |
| GLI2 | 1 | Apr 18, 2023 |
| GNAT1 | 2 | Oct 25, 2024 |
| GRM6 | 2 | Oct 17, 2024 |
| HDAC6 | 1 | May 13, 2023 |
| IFT172 | 4 | Apr 18, 2023 |
| IFT27 | 1 | Apr 18, 2023 |
| IQCB1 | 1 | Apr 18, 2023 |
| LOC126806173 | 2 | Apr 18, 2023 |
| LOC126806529 | 1 | May 13, 2023 |
| LOC126862088 | 2 | Oct 21, 2024 |
| LOC129934936 | 1 | Apr 18, 2023 |
| LOC129935068 | 1 | Apr 12, 2023 |
| LOC129991967 | 1 | May 13, 2023 |
| LOC130061278 | 1 | Apr 18, 2023 |
| LUC7L2 | 1 | May 13, 2023 |
| LZTFL1 | 1 | Apr 12, 2023 |
| MFRP | 5 | Feb 28, 2012 |
| MKKS | 7 | Jun 2, 2023 |
| MKS1 | 2 | Jun 2, 2023 |
| MYO7A | 16 | May 13, 2023 |
| NPHP3 | 1 | Jun 2, 2023 |
| NPHP3-ACAD11 | 1 | Jun 2, 2023 |
| NPHP4 | 5 | Jul 6, 2023 |
| NYX | 3 | Oct 28, 2024 |
| OSBPL8 | 1 | Apr 12, 2023 |
| OTOA | 1 | May 13, 2023 |
| PAX3 | 1 | May 13, 2023 |
| PCDH15 | 5 | May 13, 2023 |
| PDE6A | 2 | May 13, 2023 |
| PDZD7 | 2 | May 13, 2023 |
| PHLDB1 | 1 | Apr 18, 2023 |
| PLEKHG5 | 1 | Feb 28, 2012 |
| PRDM16 | 1 | May 13, 2023 |
| PRPH2 | 1 | May 13, 2023 |
| RPGRIP1 | 2 | Apr 18, 2023 |
| RPGRIP1L | 1 | Apr 12, 2023 |
| RS1 | 7 | Feb 28, 2013 |
| SDCCAG8 | 1 | Jun 2, 2023 |
| SLC9B1 | 1 | May 13, 2023 |
| TRIM32 | 2 | Jun 2, 2023 |
| TRPM1 | 5 | Oct 28, 2024 |
| TSC2 | 2 | Feb 28, 2012 |
| TSPOAP1 | 2 | Apr 18, 2023 |
| TSPOAP1-AS1 | 1 | Apr 18, 2023 |
| TTC8 | 3 | Jun 2, 2023 |
| USH1C | 4 | May 13, 2023 |
| USH1G | 2 | May 13, 2023 |
| USH2A | 39 | Jun 2, 2023 |
| USH2A-AS1 | 3 | May 13, 2023 |
| USH2A-AS2 | 3 | May 13, 2023 |
| VSX2 | 1 | Feb 28, 2012 |
| WDPCP | 1 | Apr 18, 2023 |
| WHRN | 1 | May 13, 2023 |
| ZDHHC24 | 4 | Nov 22, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bardet-Biedl syndrome | 96 | Nov 22, 2023 |
| Bardet-Biedl syndrome 10 | 1 | Mar 23, 2012 |
| Congenital stationary night blindness 1A | 1 | Oct 28, 2024 |
| Congenital stationary night blindness 1C | 11 | Oct 28, 2024 |
| Juvenile retinoschisis | 1 | Feb 28, 2013 |
| Macular schisis | 1 | Feb 28, 2013 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | Feb 28, 2012 |
| Oguchi disease-2 | 1 | Nov 2, 2024 |
| Peripheral schisis | 1 | Feb 28, 2013 |
| Pigmentary retinal dystrophy | 1 | Nov 2, 2024 |
| Tuberous sclerosis 2 | 2 | Feb 28, 2012 |
| Usher syndrome | 100 | May 13, 2023 |
| not provided | 12 | Feb 28, 2013 |