Table 3

 Variants in genes known to be associated with a different USH type and variants associated with atypical USH (USHA)

PatientPhenotypeAllele 1Allele 2
H2524USH1USH2A p.560fs
JD6381USH1USH2A p.E767fs
03-03704USH1USH2A p.L555V
57USH1USH2A p.R4115C
QUB4/B5USH1USH2A p.C536SUSH2A p.H548S
D3900USH2USH3A p.N48KUSH3A p.N48K
H2774USH2USH3A p.N48K
0303158USH2USH3A p.S50fs
D9569USH2MYO7A p.R1240Q
0401876USH2MYO7A c.736-3C>T
D8903USH3MYO7A p.Q1798X
D9804USH3MYO7A p.E1359fs
H2156USH3USH2A p.V218E
O2USH3USH2A p.E767fs
H0200USHAMYO7A p.R1743WMYO7A p.R1743W
MM52USHAMYO7A p.R1861XMYO7A p.R1861X
RP683USHACDH23 p.T1209A
21730USHACDH23 p.R1060W + p.D1341N
T56USHAUSH2A p.L555V
H1362USHAUSH2A p.W3955X