Family | Diagnosis | Gene | Allele 1* | Allele 2* | Pathogenicity Allele_1 | Pathogenicity Allele_2 | Ethnicity† |
9 families | Atypical Usher | Unknown | |||||
520 | Atypical Usher | MYO7A | p.Leu326Gln | Unknown | UV2 | Indian | |
633 | Atypical Usher | USHIC | p.Arg339Gln | Unknown | UV2 | Caucasian | |
542 | ARRP | USH2A | p.Cys759Phe | p.Cys3358Tyr | Pathogenic | UV3 | Caucasian |
505‡ | Sector RP and hearing loss | USHIC | p.Arg103His | c.2227-1G>T | Pathogenic | Pathogenic | Caucasian |
448 | Alström syndrome | Unknown | |||||
569, 502 | Unknown, not Usher | Unknown |