Molecular Genetics Laboratory (Institute for Ophthalmic Research)
General information
Molecular Genetics Laboratory
Institute for Ophthalmic Research
Elfriede-Aulhorn-Str. 5-7
Tuebingen
Baden-Wurttemberg
Germany - 72076
http://www.eye-tuebingen.de/
Organization ID: 22949
Institute for Ophthalmic Research
Elfriede-Aulhorn-Str. 5-7
Tuebingen
Baden-Wurttemberg
Germany - 72076
http://www.eye-tuebingen.de/
Organization ID: 22949
Personnel
- Nicole Weisschuh, Contact
Phone: +4970712987618
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 682
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 36 | Dec 12, 2023 |
| ADGRV1 | 3 | Jan 9, 2020 |
| AHI1 | 1 | Jan 9, 2020 |
| AHR | 1 | Dec 14, 2017 |
| AIPL1 | 4 | Jan 9, 2020 |
| ALMS1 | 4 | Jan 9, 2020 |
| ARL6 | 2 | Jan 9, 2020 |
| ATF6 | 8 | Jun 17, 2015 |
| BBS1 | 4 | Jan 9, 2020 |
| BBS10 | 2 | Jan 9, 2020 |
| BBS12 | 2 | Jan 9, 2020 |
| BBS2 | 1 | Jan 9, 2020 |
| BBS4 | 4 | Jan 9, 2020 |
| BBS7 | 1 | Jan 9, 2020 |
| BEST1 | 5 | Jan 9, 2020 |
| BLOC1S1-RDH5 | 1 | Dec 14, 2017 |
| C10orf105 | 1 | Jan 9, 2020 |
| CACNA1F | 4 | Jan 9, 2020 |
| CACNA2D4 | 1 | Jan 9, 2020 |
| CDH23 | 5 | Jan 9, 2020 |
| CDHR1 | 1 | Aug 21, 2018 |
| CDKL5 | 3 | Jan 9, 2020 |
| CEP290 | 8 | Jan 9, 2020 |
| CEP78 | 2 | Jan 9, 2020 |
| CERKL | 4 | Jan 9, 2020 |
| CFAP410 | 1 | Jan 9, 2020 |
| CHM | 6 | Jan 9, 2020 |
| CLN3 | 4 | Jan 9, 2020 |
| CNGA1 | 6 | Jan 9, 2020 |
| CNGA3 | 78 | Apr 15, 2021 |
| CNGB1 | 5 | Jan 9, 2020 |
| CNGB3 | 111 | Jan 9, 2020 |
| COL18A1 | 1 | Dec 14, 2017 |
| COL4A5 | 1 | Jan 9, 2020 |
| COL9A2 | 1 | Dec 14, 2017 |
| CRB1 | 19 | Jan 9, 2020 |
| CYGB | 1 | Jan 9, 2020 |
| EYS | 15 | Jan 9, 2020 |
| FAM161A | 4 | Jan 9, 2020 |
| FLVCR1 | 2 | Jan 9, 2020 |
| GALK1 | 1 | Dec 14, 2017 |
| GNAT2 | 25 | Jan 9, 2020 |
| GPHN | 1 | Jan 9, 2020 |
| GUCA1A | 2 | Jan 9, 2020 |
| GUCA1ANB-GUCA1A | 2 | Jan 9, 2020 |
| IMPDH1 | 2 | Jan 9, 2020 |
| IMPG1 | 3 | Jan 9, 2020 |
| IMPG2 | 8 | Jan 9, 2020 |
| IQCB1 | 1 | Jan 9, 2020 |
| ITGA4 | 2 | Jan 9, 2020 |
| KCNV2 | 3 | Jan 9, 2020 |
| KIAA1549 | 1 | Jan 9, 2020 |
| KIZ | 1 | Jan 9, 2020 |
| KLHL7 | 1 | Jan 9, 2020 |
| LCA5 | 2 | Jan 9, 2020 |
| LOC101927157 | 6 | Jan 9, 2020 |
| LOC111982869 | 1 | Jan 9, 2020 |
| LOC112806037 | 1 | Jan 9, 2020 |
| LOC122152296 | 1 | Jan 9, 2020 |
| LOC126805793 | 3 | Jan 9, 2020 |
| LOC126805794 | 2 | Jan 9, 2020 |
| LOC126806932 | 1 | Jan 9, 2020 |
| LOC129388577 | 4 | Jan 9, 2020 |
| LOC129391306 | 3 | Jan 9, 2020 |
| LOC129999258 | 1 | Jan 9, 2020 |
| LOC130065509 | 1 | Jan 9, 2020 |
| LOC130068202 | 1 | Jan 9, 2020 |
| LOXL3 | 1 | Jan 9, 2020 |
| LRAT | 1 | Jan 9, 2020 |
| MAK | 2 | Jan 9, 2020 |
| MERTK | 4 | Jan 9, 2020 |
| MYO7A | 4 | Jan 9, 2020 |
| NMNAT1 | 2 | Jan 9, 2020 |
| NR2E3 | 3 | Jan 9, 2020 |
| OAT | 1 | Jan 9, 2020 |
| OPN1LW | 1 | Nov 29, 2017 |
| OPN1MW | 1 | Nov 29, 2017 |
| PCARE | 2 | Jan 9, 2020 |
| PCYT1A | 1 | Jan 9, 2020 |
| PDE6A | 9 | Jan 9, 2020 |
| PDE6B | 21 | Sep 24, 2024 |
| PDE6B-AS1 | 8 | Sep 24, 2024 |
| PDE6C | 15 | Dec 1, 2017 |
| PDE6G | 1 | Jan 9, 2020 |
| PHF3 | 2 | Jan 9, 2020 |
| PITPNM3 | 1 | Jan 9, 2020 |
| POC1B | 1 | Jan 9, 2020 |
| PRCD | 1 | Jan 9, 2020 |
| PROM1 | 7 | Jan 9, 2020 |
| PRPF3 | 2 | Jan 9, 2020 |
| PRPF31 | 16 | Jan 9, 2020 |
| PRPF31-AS1 | 9 | Jan 9, 2020 |
| PRPF8 | 5 | Jan 9, 2020 |
| PRPH2 | 10 | Jan 9, 2020 |
| PXDN | 1 | Dec 14, 2017 |
| RBP3 | 2 | Jan 9, 2020 |
| RDH12 | 1 | Jan 9, 2020 |
| RDH5 | 1 | Dec 14, 2017 |
| RHO | 2 | Jan 9, 2020 |
| RIMS1 | 1 | Jan 9, 2020 |
| RLBP1 | 2 | Jan 9, 2020 |
| RP1 | 9 | Jan 9, 2020 |
| RP2 | 6 | Jan 9, 2020 |
| RPE65 | 5 | Jan 9, 2020 |
| RPGR | 36 | Jan 9, 2020 |
| RPGRIP1 | 8 | Jan 9, 2020 |
| RS1 | 3 | Jan 9, 2020 |
| SAG | 4 | Jan 9, 2020 |
| SEMA4A | 2 | Jan 9, 2020 |
| SLC19A1 | 1 | Dec 14, 2017 |
| SNRNP200 | 4 | Jan 9, 2020 |
| SNX10 | 1 | Dec 14, 2017 |
| SPATA7 | 1 | Dec 14, 2017 |
| TOPORS | 1 | Jan 9, 2020 |
| TTLL5 | 3 | Jan 9, 2020 |
| TULP1 | 3 | Jan 9, 2020 |
| USH1C | 3 | Jan 9, 2020 |
| USH1G | 1 | Jan 9, 2020 |
| USH2A | 54 | Jan 9, 2020 |
| USH2A-AS1 | 8 | Jan 9, 2020 |
| USH2A-AS2 | 5 | Jan 9, 2020 |
| VCAN | 1 | Jan 9, 2020 |
| VCAN-AS1 | 1 | Jan 9, 2020 |
| VPS13B | 4 | Dec 12, 2023 |
| VSX2 | 1 | Dec 14, 2017 |
| ZDHHC24 | 3 | Jan 9, 2020 |