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: 213
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 |
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 |
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 |
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 |
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 |
Juvenile retinoschisis | 1 | Feb 28, 2013 |
Macular schisis | 1 | Feb 28, 2013 |
Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | Feb 28, 2012 |
Peripheral schisis | 1 | Feb 28, 2013 |
Tuberous sclerosis 2 | 2 | Feb 28, 2012 |
Usher syndrome | 100 | May 13, 2023 |
not provided | 12 | Feb 28, 2013 |