Institute of Human Genetics, Univ. Regensburg (Univ. Regensburg)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5446
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 625 | Jun 26, 2024 |
| ABCC6 | 16 | Jun 26, 2024 |
| ABHD12 | 6 | Jun 26, 2024 |
| ACBD5 | 2 | Jun 26, 2024 |
| ACO2 | 19 | Jun 26, 2024 |
| ADAM9 | 4 | Jun 26, 2024 |
| ADAMTS18 | 8 | Jun 26, 2024 |
| ADGRA3 | 22 | Jun 26, 2024 |
| ADGRV1 | 46 | Jun 26, 2024 |
| ADIPOR1 | 3 | Jun 26, 2024 |
| AFG3L2 | 2 | Jun 26, 2024 |
| AGBL5 | 21 | Jun 26, 2024 |
| AHI1 | 14 | Jun 26, 2024 |
| AHR | 5 | Jun 26, 2024 |
| AIPL1 | 20 | Jun 26, 2024 |
| ALMS1 | 52 | Jun 26, 2024 |
| AP5Z1 | 25 | Jun 26, 2024 |
| ARFGEF1 | 1 | Jun 26, 2024 |
| ARHGEF18 | 12 | Jun 26, 2024 |
| ARL2BP | 2 | Jun 26, 2024 |
| ARL3 | 2 | Jun 26, 2024 |
| ARL6 | 8 | Jun 26, 2024 |
| ARSG | 2 | Jun 26, 2024 |
| ASRGL1 | 2 | Jun 26, 2024 |
| ASTN2 | 5 | Jun 26, 2024 |
| ATF6 | 8 | Jun 26, 2024 |
| ATRIP | 3 | Jun 26, 2024 |
| ATRIP-TREX1 | 3 | Jun 26, 2024 |
| ATXN7 | 7 | Jun 26, 2024 |
| B3GAT3 | 1 | Jun 26, 2024 |
| BBS1 | 23 | Jun 26, 2024 |
| BBS10 | 11 | Jun 26, 2024 |
| BBS12 | 3 | Jun 26, 2024 |
| BBS2 | 15 | Jun 26, 2024 |
| BBS4 | 5 | Jun 26, 2024 |
| BBS5 | 3 | Jun 26, 2024 |
| BBS7 | 7 | Jun 26, 2024 |
| BBS9 | 12 | Jun 26, 2024 |
| BEST1 | 135 | Jun 26, 2024 |
| BLOC1S1-RDH5 | 6 | Jun 26, 2024 |
| C10orf105 | 4 | Jun 26, 2024 |
| C1QTNF5 | 24 | Jun 26, 2024 |
| C3 | 9 | Jun 26, 2024 |
| CABP4 | 16 | Jun 26, 2024 |
| CACNA1F | 33 | Jun 26, 2024 |
| CACNA2D4 | 15 | Jun 26, 2024 |
| CACNG2-DT | 2 | Jun 26, 2024 |
| CAPN5 | 13 | Jun 26, 2024 |
| CC2D2A | 20 | Jun 26, 2024 |
| CCDC51 | 2 | Jun 26, 2024 |
| CCT2 | 3 | Jun 26, 2024 |
| CD63 | 4 | Jun 26, 2024 |
| CDH23 | 58 | Jun 26, 2024 |
| CDH23-AS1 | 1 | Jun 26, 2024 |
| CDH3 | 19 | Jun 26, 2024 |
| CDH3-AS1 | 1 | Jun 26, 2024 |
| CDHR1 | 38 | Jun 26, 2024 |
| CDKL5 | 76 | Jun 26, 2024 |
| CEP164 | 9 | Jun 26, 2024 |
| CEP19 | 1 | Jun 26, 2024 |
| CEP250 | 18 | Jun 26, 2024 |
| CEP250-AS1 | 5 | Jun 26, 2024 |
| CEP290 | 78 | Jun 26, 2024 |
| CEP78 | 19 | Jun 26, 2024 |
| CERKL | 27 | Jun 26, 2024 |
| CFAP410 | 18 | Jun 26, 2024 |
| CFAP418 | 6 | Jun 26, 2024 |
| CFAP418-AS1 | 1 | Jun 26, 2024 |
| CFH | 14 | Jun 26, 2024 |
| CHM | 62 | Jun 26, 2024 |
| CIB2 | 3 | Jun 26, 2024 |
| CLCC1 | 1 | Jun 26, 2024 |
| CLN3 | 10 | Jun 26, 2024 |
| CLRN1 | 14 | Jun 26, 2024 |
| CLRN1-AS1 | 1 | Jun 26, 2024 |
| CLUAP1 | 3 | Jun 26, 2024 |
| CNGA1 | 17 | Jun 26, 2024 |
| CNGA3 | 42 | Jun 26, 2024 |
| CNGB1 | 47 | Jun 26, 2024 |
| CNGB3 | 39 | Jun 26, 2024 |
| CNNM4 | 9 | Jun 26, 2024 |
| COL11A1 | 9 | Jun 26, 2024 |
| COL2A1 | 8 | Jun 26, 2024 |
| COL9A1 | 8 | Jun 26, 2024 |
| CRB1 | 71 | Jun 26, 2024 |
| CRX | 21 | Jun 26, 2024 |
| CSPP1 | 10 | Jun 26, 2024 |
| CTNNA1 | 5 | Jun 26, 2024 |
| CWC27 | 10 | Jun 26, 2024 |
| CYGB | 1 | Jun 26, 2024 |
| CYP4V2 | 29 | Jun 26, 2024 |
| DHDDS | 6 | Jun 26, 2024 |
| DHX38 | 11 | Jun 26, 2024 |
| DNAJC30 | 4 | Jun 26, 2024 |
| DNM1L | 1 | Jun 26, 2024 |
| DRAM2 | 4 | Jun 26, 2024 |
| DTHD1 | 5 | Jun 26, 2024 |
| DYNC2H1 | 34 | Jun 26, 2024 |
| DYNC2I2 | 8 | Jun 26, 2024 |
| EFEMP1 | 8 | Jun 26, 2024 |
| ELOVL1 | 1 | Jun 26, 2024 |
| ELOVL4 | 4 | Jun 26, 2024 |
| EMC1 | 14 | Jun 26, 2024 |
| EMC1-AS1 | 9 | Jun 26, 2024 |
| ESPN | 13 | Jun 26, 2024 |
| EXOSC2 | 1 | Jun 26, 2024 |
| EYS | 141 | Jun 26, 2024 |
| FAM161A | 16 | Jun 26, 2024 |
| FBLN5 | 6 | Jun 26, 2024 |
| FDXR | 3 | Jun 26, 2024 |
| FLVCR1 | 10 | Jun 26, 2024 |
| FTH1 | 4 | Jun 26, 2024 |
| FZD4 | 12 | Jun 26, 2024 |
| GATAD1 | 1 | Jun 26, 2024 |
| GDF6 | 3 | Jun 26, 2024 |
| GIGYF2 | 3 | Jun 26, 2024 |
| GNAT1 | 8 | Jun 26, 2024 |
| GNAT2 | 8 | Jun 26, 2024 |
| GNB3 | 1 | Jun 26, 2024 |
| GNPTG | 5 | Jun 26, 2024 |
| GPHN | 22 | Jun 26, 2024 |
| GPR179 | 25 | Jun 26, 2024 |
| GRK1 | 11 | Jun 26, 2024 |
| GRM6 | 10 | Jun 26, 2024 |
| GUCA1A | 10 | Jun 26, 2024 |
| GUCA1ANB-GUCA1A | 10 | Jun 26, 2024 |
| GUCA1B | 7 | Jun 26, 2024 |
| GUCY2D | 64 | Jun 26, 2024 |
| HARS1 | 2 | Jun 26, 2024 |
| HARS2 | 1 | Jun 26, 2024 |
| HGSNAT | 17 | Jun 26, 2024 |
| HK1 | 11 | Jun 26, 2024 |
| HMX1 | 4 | Jun 26, 2024 |
| IDH3A | 4 | Jun 26, 2024 |
| IDH3B | 13 | Jun 26, 2024 |
| IFT140 | 40 | Jun 26, 2024 |
| IFT172 | 27 | Jun 26, 2024 |
| IFT27 | 3 | Jun 26, 2024 |
| IFT74 | 4 | Jun 26, 2024 |
| IFT81 | 8 | Jun 26, 2024 |
| IMPDH1 | 27 | Jun 26, 2024 |
| IMPG1 | 15 | Jun 26, 2024 |
| IMPG2 | 54 | Jun 26, 2024 |
| INPP5E | 11 | Jun 26, 2024 |
| INVS | 6 | Jun 26, 2024 |
| IQCB1 | 7 | Jun 26, 2024 |
| ITGA4 | 3 | Jun 26, 2024 |
| ITM2B | 1 | Jun 26, 2024 |
| JAG1 | 3 | Jun 26, 2024 |
| KCNJ13 | 3 | Jun 26, 2024 |
| KCNV2 | 26 | Jun 26, 2024 |
| KIAA1549 | 16 | Jun 26, 2024 |
| KIF11 | 10 | Jun 26, 2024 |
| KIF3B | 7 | Jun 26, 2024 |
| KIZ | 5 | Jun 26, 2024 |
| KIZ-AS1 | 1 | Jun 26, 2024 |
| KLHL7 | 6 | Jun 26, 2024 |
| KRTCAP3 | 4 | Jun 26, 2024 |
| LAMA1 | 23 | Jun 26, 2024 |
| LCA5 | 10 | Jun 26, 2024 |
| LOC101927157 | 17 | Jun 26, 2024 |
| LOC105369889 | 2 | Jun 26, 2024 |
| LOC105371046 | 16 | Jun 26, 2024 |
| LOC108660406 | 1 | Jun 26, 2024 |
| LOC111365204 | 1 | Jun 26, 2024 |
| LOC111828517 | 2 | Jun 26, 2024 |
| LOC112806037 | 2 | Jun 26, 2024 |
| LOC119407423 | 1 | Jun 26, 2024 |
| LOC121627850 | 1 | Jun 26, 2024 |
| LOC121815974 | 1 | Jun 26, 2024 |
| LOC122152296 | 8 | Jun 26, 2024 |
| LOC124421495 | 1 | Jun 26, 2024 |
| LOC126805793 | 34 | Jun 26, 2024 |
| LOC126805794 | 18 | Jun 26, 2024 |
| LOC126805814 | 1 | Jun 26, 2024 |
| LOC126806173 | 3 | Jun 26, 2024 |
| LOC126806174 | 1 | Jun 26, 2024 |
| LOC126806252 | 3 | Jun 26, 2024 |
| LOC126806676 | 1 | Jun 26, 2024 |
| LOC126806913 | 4 | Jun 26, 2024 |
| LOC126806932 | 2 | Jun 26, 2024 |
| LOC126860392 | 9 | Jun 26, 2024 |
| LOC126860772 | 2 | Jun 26, 2024 |
| LOC126862088 | 2 | Jun 26, 2024 |
| LOC126862183 | 2 | Jun 26, 2024 |
| LOC126862260 | 4 | Jun 26, 2024 |
| LOC126862391 | 1 | Jun 26, 2024 |
| LOC126863008 | 1 | Jun 26, 2024 |
| LOC126863257 | 1 | Jun 26, 2024 |
| LOC129391306 | 4 | Jun 26, 2024 |
| LOC129932452 | 1 | Jun 26, 2024 |
| LOC129932486 | 1 | Jun 26, 2024 |
| LOC129933155 | 1 | Jun 26, 2024 |
| LOC129935214 | 1 | Jun 26, 2024 |
| LOC129935215 | 1 | Jun 26, 2024 |
| LOC129936979 | 5 | Jun 26, 2024 |
| LOC129937586 | 1 | Jun 26, 2024 |
| LOC129993036 | 1 | Jun 26, 2024 |
| LOC129993054 | 1 | Jun 26, 2024 |
| LOC129996881 | 2 | Jun 26, 2024 |
| LOC129998603 | 3 | Jun 26, 2024 |
| LOC129999258 | 4 | Jun 26, 2024 |
| LOC130000784 | 1 | Jun 26, 2024 |
| LOC130003557 | 1 | Jun 26, 2024 |
| LOC130008357 | 2 | Jun 26, 2024 |
| LOC130055387 | 1 | Jun 26, 2024 |
| LOC130057683 | 1 | Jun 26, 2024 |
| LOC130057684 | 1 | Jun 26, 2024 |
| LOC130058158 | 1 | Jun 26, 2024 |
| LOC130059818 | 2 | Jun 26, 2024 |
| LOC130061461 | 1 | Jun 26, 2024 |
| LOC130064709 | 1 | Jun 26, 2024 |
| LOC130065345 | 1 | Jun 26, 2024 |
| LOC130065509 | 1 | Jun 26, 2024 |
| LOC130065586 | 3 | Jun 26, 2024 |
| LOC130066823 | 1 | Jun 26, 2024 |
| LOC130067336 | 1 | Jun 26, 2024 |
| LOC130067629 | 1 | Jun 26, 2024 |
| LOC130068098 | 1 | Jun 26, 2024 |
| LOC130068202 | 3 | Jun 26, 2024 |
| LRAT | 7 | Jun 26, 2024 |
| LRIT3 | 3 | Jun 26, 2024 |
| LRP5 | 28 | Jun 26, 2024 |
| LZTFL1 | 1 | Jun 26, 2024 |
| MAK | 16 | Jun 26, 2024 |
| MAPKAPK3 | 1 | Jun 26, 2024 |
| MCAT | 7 | Jun 26, 2024 |
| MCOLN1 | 1 | Jun 26, 2024 |
| MERTK | 43 | Jun 26, 2024 |
| MFN2 | 7 | Jun 26, 2024 |
| MFRP | 24 | Jun 26, 2024 |
| MFSD8 | 13 | Jun 26, 2024 |
| MIEF1 | 5 | Jun 26, 2024 |
| MKKS | 6 | Jun 26, 2024 |
| MKS1 | 7 | Jun 26, 2024 |
| MT-ND1 | 3 | Jun 26, 2024 |
| MT-ND4 | 2 | Jun 26, 2024 |
| MT-ND6 | 2 | Jun 26, 2024 |
| MTPAP | 1 | Jun 26, 2024 |
| MTRFR | 1 | Jun 26, 2024 |
| MVK | 7 | Jun 26, 2024 |
| MYO7A | 61 | Jun 26, 2024 |
| NAALADL1 | 18 | Jun 26, 2024 |
| NBAS | 18 | Jun 26, 2024 |
| NDP | 16 | Jun 26, 2024 |
| NDP-AS1 | 14 | Jun 26, 2024 |
| NDUFS2 | 1 | Jun 26, 2024 |
| NEK2 | 6 | Jun 26, 2024 |
| NMNAT1 | 5 | Jun 26, 2024 |
| NPHP1 | 12 | Jun 26, 2024 |
| NPHP3 | 8 | Jun 26, 2024 |
| NPHP3-ACAD11 | 8 | Jun 26, 2024 |
| NPHP3-AS1 | 1 | Jun 26, 2024 |
| NPHP4 | 17 | Jun 26, 2024 |
| NR2E3 | 33 | Jun 26, 2024 |
| NR2F1 | 3 | Jun 26, 2024 |
| NRL | 6 | Jun 26, 2024 |
| NYX | 12 | Jun 26, 2024 |
| OAT | 10 | Jun 26, 2024 |
| OFD1 | 2 | Jun 26, 2024 |
| OPA1 | 113 | Jun 26, 2024 |
| OPA1-AS1 | 2 | Jun 26, 2024 |
| OPA3 | 1 | Jun 26, 2024 |
| OSBPL8 | 1 | Jun 26, 2024 |
| OTOP2 | 2 | Jun 26, 2024 |
| OTX2 | 3 | Jun 26, 2024 |
| PANK2 | 3 | Jun 26, 2024 |
| PAX2 | 4 | Jun 26, 2024 |
| PCARE | 32 | Jun 26, 2024 |
| PCDH15 | 15 | Jun 26, 2024 |
| PCYT1A | 5 | Jun 26, 2024 |
| PDE6A | 46 | Jun 26, 2024 |
| PDE6B | 48 | Jun 26, 2024 |
| PDE6B-AS1 | 13 | Jun 26, 2024 |
| PDE6C | 19 | Jun 26, 2024 |
| PDE6G | 1 | Jun 26, 2024 |
| PDE6H | 2 | Jun 26, 2024 |
| PDZD7 | 8 | Jun 26, 2024 |
| PEX1 | 11 | Jun 26, 2024 |
| PEX26 | 3 | Jun 26, 2024 |
| PEX7 | 2 | Jun 26, 2024 |
| PGK1 | 1 | Jun 26, 2024 |
| PHF3 | 19 | Jun 26, 2024 |
| PHYH | 9 | Jun 26, 2024 |
| PITPNM3 | 9 | Jun 26, 2024 |
| PLK4 | 5 | Jun 26, 2024 |
| PNPLA6 | 8 | Jun 26, 2024 |
| POC1B | 16 | Jun 26, 2024 |
| POC1B-AS1 | 2 | Jun 26, 2024 |
| POC1B-GALNT4 | 2 | Jun 26, 2024 |
| POC5 | 6 | Jun 26, 2024 |
| POLR3H | 7 | Jun 26, 2024 |
| POMGNT1 | 19 | Jun 26, 2024 |
| PRCD | 1 | Jun 26, 2024 |
| PRDM13 | 10 | Jun 26, 2024 |
| PROM1 | 57 | Jun 26, 2024 |
| PROS1 | 11 | Jun 26, 2024 |
| PRPF3 | 10 | Jun 26, 2024 |
| PRPF31 | 64 | Jun 26, 2024 |
| PRPF31-AS1 | 16 | Jun 26, 2024 |
| PRPF4 | 6 | Jun 26, 2024 |
| PRPF6 | 6 | Jun 26, 2024 |
| PRPF8 | 22 | Jun 26, 2024 |
| PRPH2 | 100 | Jun 26, 2024 |
| PRPS1 | 2 | Jun 26, 2024 |
| PRSS23 | 10 | Jun 26, 2024 |
| RAB28 | 9 | Jun 26, 2024 |
| RAX2 | 8 | Jun 26, 2024 |
| RB1 | 4 | Jun 26, 2024 |
| RBP3 | 33 | Jun 26, 2024 |
| RBP4 | 4 | Jun 26, 2024 |
| RCBTB1 | 9 | Jun 26, 2024 |
| RD3 | 5 | Jun 26, 2024 |
| RDH11 | 2 | Jun 26, 2024 |
| RDH12 | 20 | Jun 26, 2024 |
| RDH5 | 6 | Jun 26, 2024 |
| REEP6 | 7 | Jun 26, 2024 |
| RGR | 8 | Jun 26, 2024 |
| RGS9 | 9 | Jun 26, 2024 |
| RGS9BP | 2 | Jun 26, 2024 |
| RHO | 73 | Jun 26, 2024 |
| RIC3 | 3 | Jun 26, 2024 |
| RIMS1 | 16 | Jun 26, 2024 |
| RLBP1 | 7 | Jun 26, 2024 |
| RLIG1 | 2 | Jun 26, 2024 |
| ROM1 | 12 | Jun 26, 2024 |
| RP1 | 74 | Jun 26, 2024 |
| RP1L1 | 58 | Jun 26, 2024 |
| RP2 | 27 | Jun 26, 2024 |
| RP9 | 4 | Jun 26, 2024 |
| RPE65 | 38 | Jun 26, 2024 |
| RPGR | 163 | Jun 26, 2024 |
| RPGRIP1 | 39 | Jun 26, 2024 |
| RPGRIP1L | 10 | Jun 26, 2024 |
| RS1 | 91 | Jun 26, 2024 |
| RTN4IP1 | 6 | Jun 26, 2024 |
| SAG | 9 | Jun 26, 2024 |
| SAMD11 | 14 | Jun 26, 2024 |
| SCAPER | 18 | Jun 26, 2024 |
| SCLT1 | 9 | Jun 26, 2024 |
| SDCCAG8 | 3 | Jun 26, 2024 |
| SEMA4A | 24 | Jun 26, 2024 |
| SEMA6B | 19 | Jun 26, 2024 |
| SLC24A1 | 9 | Jun 26, 2024 |
| SLC25A46 | 3 | Jun 26, 2024 |
| SLC4A7 | 4 | Jun 26, 2024 |
| SLC7A14 | 15 | Jun 26, 2024 |
| SLC7A14-AS1 | 13 | Jun 26, 2024 |
| SNRNP200 | 32 | Jun 26, 2024 |
| SPATA7 | 15 | Jun 26, 2024 |
| SPG7 | 11 | Jun 26, 2024 |
| SPP2 | 3 | Jun 26, 2024 |
| SSBP1 | 2 | Jun 26, 2024 |
| SYN3 | 9 | Jun 26, 2024 |
| TEAD1 | 2 | Jun 26, 2024 |
| TIMP3 | 9 | Jun 26, 2024 |
| TMEM216 | 2 | Jun 26, 2024 |
| TMEM237 | 1 | Jun 26, 2024 |
| TOPORS | 19 | Jun 26, 2024 |
| TREX1 | 3 | Jun 26, 2024 |
| TRIM32 | 5 | Jun 26, 2024 |
| TRNT1 | 9 | Jun 26, 2024 |
| TRPM1 | 23 | Jun 26, 2024 |
| TSPAN1 | 15 | Jun 26, 2024 |
| TSPAN12 | 6 | Jun 26, 2024 |
| TSTD3 | 11 | Jun 26, 2024 |
| TTC8 | 9 | Jun 26, 2024 |
| TTLL5 | 23 | Jun 26, 2024 |
| TTPA | 5 | Jun 26, 2024 |
| TUB | 5 | Jun 26, 2024 |
| TUBGCP4 | 4 | Jun 26, 2024 |
| TUBGCP6 | 20 | Jun 26, 2024 |
| TULP1 | 33 | Jun 26, 2024 |
| UBR2 | 1 | Jun 26, 2024 |
| USH1C | 10 | Jun 26, 2024 |
| USH1G | 8 | Jun 26, 2024 |
| USH2A | 295 | Jan 7, 2025 |
| USH2A-AS1 | 24 | Jun 26, 2024 |
| USH2A-AS2 | 17 | Jun 26, 2024 |
| USP45 | 11 | Jun 26, 2024 |
| VCAN | 12 | Jun 26, 2024 |
| VCAN-AS1 | 8 | Jun 26, 2024 |
| WDPCP | 4 | Jun 26, 2024 |
| WDR19 | 12 | Jun 26, 2024 |
| WFS1 | 47 | Jun 26, 2024 |
| WHRN | 9 | Jun 26, 2024 |
| YARS2 | 1 | Jun 26, 2024 |
| YME1L1 | 2 | Jun 26, 2024 |
| ZDHHC24 | 11 | Jun 26, 2024 |
| ZNF408 | 19 | Jun 26, 2024 |
| ZNF423 | 8 | Jun 26, 2024 |
| ZNF454 | 6 | Jun 26, 2024 |
| ZNF513 | 6 | Jun 26, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Leber congenital amaurosis 10 | 1 | Jan 7, 2025 |
| Optic atrophy | 442 | Jun 26, 2024 |
| Retinal dystrophy | 4874 | Jun 26, 2024 |
| Severe early-childhood-onset retinal dystrophy | 128 | May 25, 2016 |
| Usher syndrome type 2A | 1 | Jan 7, 2025 |