LOVD - Current system status

2017/11/23 15:54:10 CET - Thursday, November 23rd 2017

Gene symbol Gene name Total variants Unique variants Patients
CDH23 cadherin-related 23 1818 443 636
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 0 0 0
CERKL ceramide kinase-like 0 0 0
CHM choroideremia (Rab escort protein 1) 473 280 473
CLDN14 claudin 14 0 0 0
CLRN1 clarin 1 371 45 197
GPR98 G protein-coupled receptor 98 1229 312 228
MYO15A myosin XVA 294 112 137
MYO6 myosin VI 91 23 75
MYO7A myosin VIIA 3387 522 797
OTOF otoferlin 254 99 134
PCDH15 protocadherin-related 15 710 178 244
PDZD7 PDZ domain containing 7 39 17 25
SLC26A4 solute carrier family 26 (anion exchanger), member 4 589 114 327
TECTA tectorin alpha 108 61 85
TMC1 transmembrane channel-like 1 313 66 148
USH1C Usher syndrome 1C 414 99 174
USH1G Usher syndrome 1G 106 36 61
USH2A Usher syndrome 2A 10582 1054 3381
WHRN Whirlin 1433 73 1081
  Total of 20 gene entries 22211 3534 7656