NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)Pathogenic
not provided|Usher syndrome type 1C|Autosomal recessive nonsyndromic hearing loss 18A|USH1C-related disorder
β
β
ββ2026β Residue 347
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2026β Residue 801
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C|not provided|USH1C-related disorder|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2026β Residue 776
NM_153676.4(USH1C):c.216G>A (p.Val72=)Pathogenic
Usher syndrome type 1C|Usher syndrome type 1|not provided|Usher syndrome|Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C;Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 18A|Rare genetic deafness|USH1C-related disorder
β
β
ββ2026β Residue 72
NM_153676.4(USH1C):c.497-2delPathogenic
Usher syndrome type 1C|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 18A|Retinal dystrophy|Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C|not provided
β
β
ββ2026
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 18A
β
β
ββ2026β Residue 196
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)Pathogenic
Usher syndrome type 1C|not provided|Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C;Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 18A
β
β
ββ2025β Residue 31
NM_153676.4(USH1C):c.2490+1G>ALikely pathogenic
not provided|Usher syndrome type 1C
β
β
ββ2025
NM_153676.4(USH1C):c.579+1G>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2025
NM_153676.4(USH1C):c.1096del (p.Glu366fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 18A|not provided|Usher syndrome type 1C
β
β
ββ2025β Residue 366
NM_153676.4(USH1C):c.238dup (p.Arg80fs)Pathogenic
Usher syndrome type 1C|Usher syndrome type 1|Usher syndrome|Retinal dystrophy|not provided|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 18A|Retinitis pigmentosa|USH1C-related disorder|Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C
β
β
ββ2025β Residue 80
NM_153676.4(USH1C):c.491_492del (p.Val164fs)Pathogenic
Retinal dystrophy|not provided|Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2025β Residue 164
NM_153676.4(USH1C):c.308G>A (p.Arg103His)Pathogenic
Usher syndrome type 1C|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1|Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A|not provided
β
β
ββ2025β Residue 103
NM_153676.4(USH1C):c.877-1G>APathogenic
Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C|Autosomal recessive nonsyndromic hearing loss 18A|not provided|Usher syndrome type 1C
β
β
ββ2025
NM_153676.4(USH1C):c.496+1G>APathogenic
Usher syndrome type 1C|not provided|Inborn genetic diseases|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A
β
β
ββ2025
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)Pathogenic
Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C|not provided|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2025β Residue 379
NM_153676.4(USH1C):c.24del (p.Glu8fs)Pathogenic
not provided|Usher syndrome type 1C
β
β
ββ2025β Residue 8
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1|Usher syndrome type 1C
β
β
ββ2025β Residue 220
NM_153676.4(USH1C):c.375del (p.Ser125fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2025β Residue 125
NM_153676.4(USH1C):c.579+1G>CPathogenic
Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C|not provided|Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C
β
β
ββ2025