NM_152443.3(RDH12):c.146C>T (p.Thr49Met)Pathogenic
Leber congenital amaurosis 13|not provided|Cone-rod dystrophy|Leber congenital amaurosis|Retinal dystrophy
β
β
ββ2026β Residue 49
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)Pathogenic
Leber congenital amaurosis 13|not provided|Retinitis pigmentosa|Retinal dystrophy|Leber congenital amaurosis
β
β
ββ2026β Residue 99
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)Pathogenic
Leber congenital amaurosis 13|not provided|Cone-rod dystrophy|Leber congenital amaurosis|See cases|Retinal dystrophy
β
β
ββ2026β Residue 155
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)Pathogenic
Leber congenital amaurosis 13|Leber congenital amaurosis|Cone-rod dystrophy|Retinal dystrophy
β
β
ββ2026β Residue 161
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)Pathogenic
Leber congenital amaurosis 13|RDH12-related disorder|Abnormality of the eye|Retinal dystrophy|Retinitis pigmentosa|not provided|Leber congenital amaurosis
β
β
ββ2026β Residue 269
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)Pathogenic
Leber congenital amaurosis 13|not provided|Retinal dystrophy|Leber congenital amaurosis
β
β
ββ2026β Residue 22
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)Pathogenic
Leber congenital amaurosis 13|Leber congenital amaurosis
β
β
ββ2026β Residue 93
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)Pathogenic
Retinitis pigmentosa 53|Retinitis pigmentosa|Retinal dystrophy|not provided|Leber congenital amaurosis 13|Leber congenital amaurosis|RDH12-related disorder
β
β
ββ2026β Residue 126
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)Pathogenic
Retinal dystrophy|Leber congenital amaurosis 13|Leber congenital amaurosis
β
β
ββ2025β Residue 233
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)Pathogenic
Leber congenital amaurosis 13|Leber congenital amaurosis
β
β
ββ2025β Residue 194
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)Pathogenic
Leber congenital amaurosis 13|Cone-rod dystrophy|Leber congenital amaurosis
β
β
ββ2025β Residue 49
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)Pathogenic
Leber congenital amaurosis 13|Leber congenital amaurosis
β
β
ββ2025β Residue 45
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)Pathogenic
Leber congenital amaurosis 13|Leber congenital amaurosis
β
β
ββ2025β Residue 47
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)Pathogenic
Leber congenital amaurosis 13|Retinitis pigmentosa|not provided|Leber congenital amaurosis|Retinal dystrophy
β
β
ββ2025β Residue 127
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)Pathogenic
Leber congenital amaurosis 13|Retinitis pigmentosa|Leber congenital amaurosis
β
β
ββ2025β Residue 239
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)Pathogenic
Leber congenital amaurosis 13|Leber congenital amaurosis
β
β
ββ2025β Residue 169
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)Pathogenic
Leber congenital amaurosis 13|not provided|Leber congenital amaurosis
β
β
ββ2025β Residue 77
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)Pathogenic
Leber congenital amaurosis 13|not provided|Leber congenital amaurosis
β
β
ββ2025β Residue 106
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)Pathogenic
Leber congenital amaurosis 13|Retinal dystrophy|not provided|Leber congenital amaurosis
β
β
ββ2025β Residue 62
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)Pathogenic
Leber congenital amaurosis 13|Retinal dystrophy|not provided|Leber congenital amaurosis
β
β
ββ2025β Residue 226