NM_001368894.2(PAX6):c.817dup (p.Ser273fs)Pathogenic
Aniridia 1;Irido-corneo-trabecular dysgenesis|Aniridia 1|Sporadic aniridia
β
β
ββ2026β Residue 273
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)Pathogenic
Aniridia 1;Irido-corneo-trabecular dysgenesis|Inborn genetic diseases
β
β
ββ2025β Residue 40
NM_001368894.2(PAX6):c.355A>T (p.Arg119Ter)Pathogenic
Aniridia 1|Aniridia 1;Irido-corneo-trabecular dysgenesis
β
β
ββ2025β Residue 119
NM_001368894.2(PAX6):c.241A>T (p.Arg81Ter)Pathogenic
not provided|Aniridia 1;Irido-corneo-trabecular dysgenesis
β
β
ββ2025β Residue 81
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)Pathogenic
not provided|Aniridia 1;Irido-corneo-trabecular dysgenesis|Aniridia 1|Albinism or congenital nystagmus
β
β
ββ2025β Residue 331
NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter)Pathogenic
Aniridia 1|not provided|Aniridia 1;Irido-corneo-trabecular dysgenesis
β
β
ββ2025β Residue 69
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu)Pathogenic
Aniridia 1;Irido-corneo-trabecular dysgenesis|PAX6-related disorder
β
β
ββ2025β Residue 92
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)Pathogenic
Aniridia 1|Irido-corneo-trabecular dysgenesis;Aniridia 1|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 217
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)Pathogenic
Aniridia 1|not provided|8 conditions|Irido-corneo-trabecular dysgenesis;Aniridia 1|Hypertelorism;Nystagmus;Visual impairment|Foveal hypoplasia 1|Sporadic aniridia
β
β
ββ2025β Residue 437
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)Pathogenic
Aniridia 1|Aniridia 1;Irido-corneo-trabecular dysgenesis|Coloboma, ocular, autosomal dominant|not provided
β
β
ββ2025β Residue 38
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)Pathogenic
Aniridia, atypical|Irido-corneo-trabecular dysgenesis;Aniridia 1|PAX6-related ocular dysgenesis|7 conditions|Irido-corneo-trabecular dysgenesis;Foveal hypoplasia 1
β
β
ββ2025β Residue 140
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)Pathogenic
Aniridia 1|Aniridia 1;Irido-corneo-trabecular dysgenesis|Irido-corneo-trabecular dysgenesis
β
β
ββ2025β Residue 26
NM_001368894.2(PAX6):c.399+1G>APathogenic
not provided|Aniridia 1|Irido-corneo-trabecular dysgenesis;Aniridia 1|PAX6-related disorder
β
β
ββ2025
NM_001368894.2(PAX6):c.109del (p.Ala37fs)Pathogenic
not provided|Aniridia 1;Irido-corneo-trabecular dysgenesis
β
β
ββ2025β Residue 37
NM_001368894.2(PAX6):c.1225+5G>APathogenic
Aniridia 1;Irido-corneo-trabecular dysgenesis|Inborn genetic diseases
β
β
ββ2025
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)Pathogenic
Aniridia 1|not provided|Aniridia 1;Irido-corneo-trabecular dysgenesis
β
β
ββ2025β Residue 65
NC_000011.10:g.31800857delPathogenic
not provided|Aniridia 1;Irido-corneo-trabecular dysgenesis
β
β
ββ2025
NM_001368894.2(PAX6):c.-128-2delPathogenic
Aniridia 1|Aniridia 1;Irido-corneo-trabecular dysgenesis|Isolated anophthalmia-microphthalmia syndrome
β
β
ββ2025
NM_001368894.2(PAX6):c.959-1G>APathogenic
Aniridia 1|Aniridia 1;Irido-corneo-trabecular dysgenesis|not provided
β
β
ββ2025
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)Pathogenic
not provided|Aniridia 1|Aniridia 1;Irido-corneo-trabecular dysgenesis|8 conditions|7 conditions|PAX6-related disorder
β
β
ββ2025β Residue 275