NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)Pathogenic
Stargardt disease 4|Retinal macular dystrophy type 2|Cone-rod dystrophy 12|Retinal dystrophy|not provided|Macular dystrophy|Stargardt disease|Retinitis pigmentosa|Retinitis pigmentosa 41;Retinal macular dystrophy type 2;Cone-rod dystrophy 12;Stargardt disease 4|Retinal disorder
β
β
ββ2026β Residue 373
NM_006017.3(PROM1):c.1301+2T>CPathogenic
Cone-rod dystrophy 12|not provided|Retinitis pigmentosa 41|Cone-rod dystrophy|Retinal dystrophy
β
β
ββ2025
NM_006017.3(PROM1):c.45dup (p.Asn16fs)Pathogenic
Cone-rod dystrophy|Cone-rod dystrophy 12
β
β
ββ2025β Residue 16
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)Pathogenic
not provided|Retinal dystrophy|Cone-rod dystrophy 12|Retinitis pigmentosa 41|Autosomal recessive retinitis pigmentosa|PROM1-related disorder|Retinitis pigmentosa|Cone-rod dystrophy 2|Stargardt disease|Retinal disorder
β
β
ββ2025β Residue 452
NM_006017.3(PROM1):c.2130+2delPathogenic
not provided|Autosomal recessive retinitis pigmentosa
β
β
ββ2025
NM_006017.3(PROM1):c.784+1G>APathogenic
Retinitis pigmentosa 41|not provided|Retinal dystrophy|Stargardt disease|Leber congenital amaurosis
β
β
ββ2025
NM_006017.3(PROM1):c.1984-1G>TPathogenic
Retinitis pigmentosa 41|not provided|Stargardt disease|Cone-rod dystrophy|Leber congenital amaurosis|PROM1-related disorder
β
β
ββ2025
NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2025β Residue 549
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)Pathogenic
Retinitis pigmentosa 41|Cone-rod dystrophy 12|not provided
β
β
ββ2025β Residue 218
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)Pathogenic
Retinal dystrophy|Retinitis pigmentosa 41|not provided
β
β
ββ2025β Residue 146
NM_006017.3(PROM1):c.1142-1G>APathogenic
not provided|Retinal dystrophy|Cone-rod dystrophy 12|Retinal macular dystrophy type 2;Stargardt disease 4;Cone-rod dystrophy 12;Retinitis pigmentosa 41|Retinal macular dystrophy type 2
β
β
ββ2025
NM_006017.3(PROM1):c.139del (p.His47fs)Pathogenic
Leber congenital amaurosis 1|not provided|Retinitis pigmentosa 41|Cone-rod dystrophy 12
β
β
ββ2025β Residue 47
NM_006017.3(PROM1):c.869del (p.Ser290fs)Pathogenic
Retinitis pigmentosa 41|not provided|Cone-rod dystrophy
β
β
ββ2025β Residue 290
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)Pathogenic
Retinitis pigmentosa|Retinal dystrophy|not provided
β
β
ββ2025β Residue 704
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)Pathogenic
not provided|Retinal dystrophy|Cone-rod dystrophy 12|PROM1-related disorder
β
β
ββ2025β Residue 519
NM_006017.3(PROM1):c.622del (p.Thr208fs)Pathogenic
Retinitis pigmentosa 41|Retinal dystrophy|not provided|Cone-rod dystrophy 12;Retinal macular dystrophy type 2;Stargardt disease 4;Retinitis pigmentosa 41
β
β
ββ2025β Residue 208
NM_006017.3(PROM1):c.154del (p.Ile52fs)Pathogenic
Retinal macular dystrophy type 2;Retinitis pigmentosa 41;Cone-rod dystrophy 12;Stargardt disease 4|not provided
β
β
ββ2025β Residue 52
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2025β Residue 472
NM_006017.3(PROM1):c.303+1G>APathogenic
not provided|Retinal dystrophy
β
β
ββ2025
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)Pathogenic
Retinal dystrophy|not provided|Cone-rod dystrophy 12
β
β
ββ2025β Residue 244