Table 3

Genotypes of atypical and non-Usher patients (novel variants are in bold)

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

↵* Unless stated otherwise, the alleles were not observed in control chromosomes.
↵† Caucasian: UK and European.
↵‡ Saihan et al.35
ARRP, autosomal recessive retinitis pigmentosa; RP, retinitis pigmentosa; UV, unclassified variant.