LOVD - Current system status

2017/03/30 12:43:18 CEST - Thursday, March 30th 2017

Gene symbol Gene name Total variants Unique variants Patients
CDH23 cadherin-related 23 1812 439 633
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 0 0 0
CERKL ceramide kinase-like 0 0 0
CHM choroideremia (Rab escort protein 1) 453 270 453
CLDN14 claudin 14 0 0 0
CLRN1 clarin 1 371 45 197
GPR98 G protein-coupled receptor 98 1223 310 225
MYO15A myosin XVA 284 103 131
MYO6 myosin VI 90 22 74
MYO7A myosin VIIA 3377 519 792
OTOF otoferlin 248 95 131
PCDH15 protocadherin-related 15 710 178 244
PDZD7 PDZ domain containing 7 39 17 25
SLC26A4 solute carrier family 26 (anion exchanger), member 4 584 113 324
TECTA tectorin alpha 103 58 81
TMC1 transmembrane channel-like 1 309 64 146
USH1C Usher syndrome 1C 412 97 173
USH1G Usher syndrome 1G 106 36 61
USH2A Usher syndrome 2A 10574 1052 3377
WHRN Whirlin 1433 73 1081
  Total of 20 gene entries 22128 3491 7605