Dept Of Ophthalmology (Nagoya University)
General information
Personnel
- Kensuke Goto, Staff
Phone: +81527442275
Email: kensuke.goto1214@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3515
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 140 | Feb 20, 2024 |
| ADGRA3 | 56 | Feb 20, 2024 |
| ADIPOR1 | 4 | Feb 20, 2024 |
| AGBL5 | 45 | Feb 20, 2024 |
| ARL2BP | 6 | Feb 20, 2024 |
| ARL3 | 6 | Feb 20, 2024 |
| ARL6 | 4 | Feb 20, 2024 |
| ATP5ME | 1 | Feb 20, 2024 |
| BBS1 | 28 | Feb 20, 2024 |
| BBS2 | 33 | Feb 20, 2024 |
| BEST1 | 27 | Feb 20, 2024 |
| CA4 | 19 | Feb 20, 2024 |
| CEP290 | 83 | Feb 20, 2024 |
| CERKL | 27 | Feb 20, 2024 |
| CFAP418 | 11 | Feb 20, 2024 |
| CFAP418-AS1 | 3 | Feb 20, 2024 |
| CHM | 24 | Feb 20, 2024 |
| CLRN1 | 14 | Feb 20, 2024 |
| CLRN1-AS1 | 2 | Feb 20, 2024 |
| CNGA1 | 14 | Feb 20, 2024 |
| CNGB1 | 86 | Feb 20, 2024 |
| CRB1 | 57 | Feb 20, 2024 |
| CRX | 24 | Feb 20, 2024 |
| CYGB | 5 | Feb 20, 2024 |
| CYP4V2 | 33 | Feb 20, 2024 |
| DHDDS | 11 | Feb 20, 2024 |
| DHX38 | 61 | Feb 20, 2024 |
| EMC1 | 41 | Feb 20, 2024 |
| EMC1-AS1 | 34 | Feb 20, 2024 |
| EYS | 226 | Feb 20, 2024 |
| FAM161A | 20 | Feb 20, 2024 |
| FSCN2 | 43 | Feb 20, 2024 |
| FTH1 | 5 | Feb 20, 2024 |
| GPHN | 14 | Feb 20, 2024 |
| GUCA1B | 11 | Feb 20, 2024 |
| HGSNAT | 29 | Feb 20, 2024 |
| HK1 | 32 | Feb 20, 2024 |
| IDH3B | 8 | Feb 20, 2024 |
| IFT140 | 99 | Feb 20, 2024 |
| IFT172 | 61 | Feb 20, 2024 |
| IMPDH1 | 38 | Feb 20, 2024 |
| IMPG1 | 48 | Feb 20, 2024 |
| IMPG2 | 42 | Feb 20, 2024 |
| ITGA4 | 2 | Feb 20, 2024 |
| KIAA1549 | 95 | Feb 20, 2024 |
| KIZ | 26 | Feb 20, 2024 |
| KIZ-AS1 | 3 | Feb 20, 2024 |
| KLHL7 | 8 | Feb 20, 2024 |
| KRTCAP3 | 10 | Feb 20, 2024 |
| LOC101927157 | 14 | Feb 20, 2024 |
| LOC105371046 | 30 | Feb 20, 2024 |
| LOC112806037 | 3 | Feb 20, 2024 |
| LOC122152296 | 12 | Feb 20, 2024 |
| LOC126805793 | 8 | Feb 20, 2024 |
| LOC126805794 | 4 | Feb 20, 2024 |
| LOC126806173 | 8 | Feb 20, 2024 |
| LOC126806174 | 8 | Feb 20, 2024 |
| LOC126806272 | 4 | Feb 20, 2024 |
| LOC126860392 | 14 | Feb 20, 2024 |
| LOC126862260 | 13 | Feb 20, 2024 |
| LOC126862391 | 6 | Feb 20, 2024 |
| LOC126863090 | 2 | Feb 20, 2024 |
| LOC129391306 | 1 | Feb 20, 2024 |
| LOC129932452 | 3 | Feb 20, 2024 |
| LOC129933376 | 1 | Feb 20, 2024 |
| LOC129933843 | 2 | Feb 20, 2024 |
| LOC129993526 | 2 | Feb 20, 2024 |
| LOC129998224 | 1 | Feb 20, 2024 |
| LOC129998225 | 2 | Feb 20, 2024 |
| LOC129999258 | 1 | Feb 20, 2024 |
| LOC130000316 | 3 | Feb 20, 2024 |
| LOC130000784 | 3 | Feb 20, 2024 |
| LOC130003980 | 1 | Feb 20, 2024 |
| LOC130055387 | 2 | Feb 20, 2024 |
| LOC130056226 | 1 | Feb 20, 2024 |
| LOC130065507 | 6 | Feb 20, 2024 |
| LOC130065509 | 1 | Feb 20, 2024 |
| LOC130068202 | 2 | Feb 20, 2024 |
| LRAT | 4 | Feb 20, 2024 |
| MAK | 41 | Feb 20, 2024 |
| MERTK | 48 | Feb 20, 2024 |
| MVK | 13 | Feb 20, 2024 |
| NEK2 | 17 | Feb 20, 2024 |
| NEUROD1 | 12 | Feb 20, 2024 |
| NR2E3 | 35 | Feb 20, 2024 |
| NRL | 10 | Feb 20, 2024 |
| OFD1 | 17 | Feb 20, 2024 |
| PCARE | 84 | Feb 20, 2024 |
| PDE6A | 38 | Feb 20, 2024 |
| PDE6B | 70 | Feb 20, 2024 |
| PDE6B-AS1 | 14 | Feb 20, 2024 |
| PDE6G | 5 | Feb 20, 2024 |
| PHF3 | 38 | Feb 20, 2024 |
| POMGNT1 | 27 | Feb 20, 2024 |
| PRCD | 5 | Feb 20, 2024 |
| PROM1 | 51 | Feb 20, 2024 |
| PRPF3 | 12 | Feb 20, 2024 |
| PRPF31 | 39 | Feb 20, 2024 |
| PRPF31-AS1 | 13 | Feb 20, 2024 |
| PRPF6 | 29 | Feb 20, 2024 |
| PRPF8 | 68 | Feb 20, 2024 |
| PRPH2 | 48 | Feb 20, 2024 |
| RBP3 | 70 | Feb 20, 2024 |
| RDH12 | 14 | Feb 20, 2024 |
| RGR | 15 | Feb 20, 2024 |
| RHO | 47 | Feb 20, 2024 |
| RLBP1 | 15 | Feb 20, 2024 |
| RLIG1 | 2 | Feb 20, 2024 |
| ROM1 | 15 | Feb 20, 2024 |
| RP1 | 92 | Feb 20, 2024 |
| RP1L1 | 212 | Feb 20, 2024 |
| RP2 | 17 | Feb 20, 2024 |
| RP9 | 10 | Feb 20, 2024 |
| RPE65 | 26 | Feb 20, 2024 |
| RPGR | 61 | Feb 20, 2024 |
| SAG | 19 | Feb 20, 2024 |
| SEMA4A | 19 | Feb 20, 2024 |
| SLC7A14 | 32 | Feb 20, 2024 |
| SLC7A14-AS1 | 29 | Feb 20, 2024 |
| SNRNP200 | 55 | Feb 20, 2024 |
| SPATA7 | 29 | Feb 20, 2024 |
| SPP2 | 15 | Feb 20, 2024 |
| TOPORS | 31 | Feb 20, 2024 |
| TRNT1 | 18 | Feb 20, 2024 |
| TSPAN1 | 25 | Feb 20, 2024 |
| TTC8 | 22 | Feb 20, 2024 |
| TULP1 | 32 | Feb 20, 2024 |
| USH2A | 301 | Feb 20, 2024 |
| USH2A-AS1 | 16 | Feb 20, 2024 |
| USH2A-AS2 | 22 | Feb 20, 2024 |
| ZDHHC24 | 15 | Feb 20, 2024 |
| ZFYVE26 | 5 | Feb 20, 2024 |
| ZNF408 | 20 | Feb 20, 2024 |
| ZNF513 | 15 | Feb 20, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Retinal dystrophy | 3515 | Feb 20, 2024 |