Department of Ophthalmology and Visual Sciences (Kyoto University)
General information
Personnel
- Nagahisa Yoshimura
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 192
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 15 | Jul 29, 2014 |
| ABCC6 | 5 | Jul 29, 2014 |
| ADAMTS9-AS2 | 1 | Jan 6, 2015 |
| ADGRV1 | 3 | Jul 29, 2014 |
| AHI1 | 1 | Jul 29, 2014 |
| ARMS2 | 2 | Jan 6, 2015 |
| B3GLCT | 1 | Jan 6, 2015 |
| BBS4 | 2 | Jul 29, 2014 |
| BEST1 | 1 | Jul 29, 2014 |
| C1QTNF5 | 1 | Jul 29, 2014 |
| C3 | 1 | Jan 6, 2015 |
| CASP6 | 1 | Jan 6, 2015 |
| CDH23 | 1 | Jul 29, 2014 |
| CEP290 | 2 | Jul 29, 2014 |
| CFH | 1 | Jan 6, 2015 |
| CHM | 1 | Jul 29, 2014 |
| CNGA1 | 4 | Jul 29, 2014 |
| CNGB1 | 2 | Jul 29, 2014 |
| CNGB3 | 1 | Jul 29, 2014 |
| COL10A1 | 1 | Jan 6, 2015 |
| COL8A1 | 1 | Jan 6, 2015 |
| CRB1 | 1 | Jul 29, 2014 |
| CRX | 4 | Jul 29, 2014 |
| CYGB | 1 | Jul 29, 2014 |
| CYP4V2 | 3 | Jul 29, 2014 |
| EYS | 17 | Jul 29, 2014 |
| FSCN2 | 1 | Jul 29, 2014 |
| FZD4 | 1 | Jul 29, 2014 |
| GPHN | 2 | Jul 29, 2014 |
| GRM6 | 1 | Jul 29, 2014 |
| GUCA1B | 1 | Jul 29, 2014 |
| GUCY2D | 5 | Jul 29, 2014 |
| HTRA1 | 1 | Jan 6, 2015 |
| IMPG2 | 1 | Jul 29, 2014 |
| JAG1 | 3 | Jul 29, 2014 |
| KCNV2 | 1 | Jul 29, 2014 |
| LOC101927157 | 4 | Jul 29, 2014 |
| LOC111255645 | 1 | Jan 6, 2015 |
| LOC122152296 | 1 | Jul 29, 2014 |
| LOC126805794 | 1 | Jul 29, 2014 |
| LOC126859653 | 1 | Jan 6, 2015 |
| LOC126860392 | 2 | Jul 29, 2014 |
| LOC129993526 | 1 | Jul 29, 2014 |
| LRAT | 1 | Jul 29, 2014 |
| MAK | 3 | Jul 29, 2014 |
| MCUB | 1 | Jan 6, 2015 |
| MERTK | 3 | Jul 29, 2014 |
| MFRP | 1 | Jul 29, 2014 |
| MKKS | 2 | Jul 29, 2014 |
| MMP20 | 1 | Jan 6, 2015 |
| MYO7A | 3 | Jul 29, 2014 |
| NR2E3 | 2 | Jul 29, 2014 |
| NRL | 1 | Jul 29, 2014 |
| NT5DC1 | 1 | Jan 6, 2015 |
| OPA3 | 1 | Jul 29, 2014 |
| PCARE | 2 | Jul 29, 2014 |
| PDE6B | 5 | Jul 29, 2014 |
| PDE6B-AS1 | 2 | Jul 29, 2014 |
| PHF3 | 3 | Jul 29, 2014 |
| POLR1C | 1 | Jan 6, 2015 |
| PRCD | 1 | Jul 29, 2014 |
| PRPF31 | 3 | Jul 29, 2014 |
| PRPF31-AS1 | 3 | Jul 29, 2014 |
| PRPF6 | 1 | Jul 29, 2014 |
| PRPH2 | 4 | Jul 29, 2014 |
| RAD51B | 1 | Jan 6, 2015 |
| RDH12 | 2 | Jul 29, 2014 |
| RHO | 7 | Jul 29, 2014 |
| ROM1 | 1 | Jul 29, 2014 |
| RP1 | 5 | Jul 29, 2014 |
| RP1L1 | 3 | Jul 29, 2014 |
| RPE65 | 2 | Jul 29, 2014 |
| RPGR | 8 | Jul 29, 2014 |
| RPGRIP1 | 1 | Jul 29, 2014 |
| RPGRIP1L | 1 | Jul 29, 2014 |
| SAG | 1 | Jul 29, 2014 |
| SKIC2 | 1 | Jan 6, 2015 |
| SLC16A8 | 1 | Jan 6, 2015 |
| SLC24A1 | 1 | Jul 29, 2014 |
| SNRNP200 | 3 | Jul 29, 2014 |
| SPATA7 | 1 | Jul 29, 2014 |
| TGFBR1 | 1 | Jan 6, 2015 |
| TNFRSF10A-DT | 1 | Jan 6, 2015 |
| TOPORS | 1 | Jul 29, 2014 |
| TULP1 | 2 | Jul 29, 2014 |
| USH2A | 20 | Jul 29, 2014 |
| USH2A-AS1 | 2 | Jul 29, 2014 |
| WFS1 | 2 | Jul 29, 2014 |
| ZFYVE26 | 1 | Jul 29, 2014 |
| ZNF454 | 1 | Jul 29, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alagille syndrome due to a JAG1 point mutation | 1 | Jul 29, 2014 |
| Bietti crystalline corneoretinal dystrophy | 1 | Jul 29, 2014 |
| Choroideremia | 1 | Jul 29, 2014 |
| Cone-rod dystrophy 2 | 1 | Jul 29, 2014 |
| Cone-rod dystrophy 3 | 1 | Jul 29, 2014 |
| Cone-rod dystrophy 6 | 1 | Jul 29, 2014 |
| Leber congenital amaurosis 8 | 1 | Jul 29, 2014 |
| Retinitis pigmentosa | 91 | Jul 29, 2014 |
| Retinitis pigmentosa 38 | 1 | Jul 29, 2014 |
| Severe early-childhood-onset retinal dystrophy | 6 | Jul 29, 2014 |
| Usher syndrome type 2A | 5 | Jul 29, 2014 |
| Usher syndrome type 2C | 3 | Jul 29, 2014 |
| not provided | 79 | Jan 6, 2015 |