NM_006915.3(RP2):c.358C>T (p.Arg120Ter)Pathogenic
Retinitis pigmentosa 2|Retinal dystrophy|Retinitis pigmentosa|not provided
β
β
ββ2026β Residue 120
NM_006915.3(RP2):c.798_801del (p.Thr267fs)Pathogenic
not provided|Retinal disorder
β
β
ββ2025β Residue 267
NM_006915.3(RP2):c.353G>A (p.Arg118His)Pathogenic
Retinitis pigmentosa 2|Retinal dystrophy|not provided
β
β
ββ2025β Residue 118
NM_006915.3(RP2):c.102G>A (p.Lys34=)Likely pathogenic
Leber congenital amaurosis|Retinitis pigmentosa 3|not provided
β
β
ββ2025β Residue 34
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)Pathogenic
Retinal dystrophy|Retinitis pigmentosa|not provided|X-linked retinitis pigmentosa|Retinitis pigmentosa 2
β
β
ββ2025β Residue 118
NM_006915.3(RP2):c.758T>G (p.Leu253Arg)Likely pathogenic
not provided|Retinitis pigmentosa
β
β
ββ2025β Residue 253
NM_006915.3(RP2):c.409_411del (p.Ile137del)Pathogenic
not provided|Retinal dystrophy|Retinitis pigmentosa 2
β
β
ββ2025β Residue 137
NM_006915.3(RP2):c.58G>T (p.Glu20Ter)Pathogenic
not provided|Retinitis pigmentosa 2
β
β
ββ2025β Residue 20
NM_006915.3(RP2):c.352del (p.Arg118fs)Pathogenic
not provided
β
β
ββ2025β Residue 118
NM_006915.3(RP2):c.631del (p.Arg211fs)Pathogenic
not provided
β
β
ββ2025β Residue 211
NM_006915.3(RP2):c.685C>T (p.Gln229Ter)Pathogenic
not provided
β
β
ββ2024β Residue 229
NM_006915.3(RP2):c.801_804del (p.Glu269fs)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2024β Residue 269
NM_006915.3(RP2):c.2T>C (p.Met1Thr)Pathogenic
not provided|Retinitis pigmentosa|X-linked retinitis pigmentosa
β
β
ββ2024β Residue 1
NM_006915.3(RP2):c.1A>T (p.Met1Leu)Pathogenic
not provided|Retinitis pigmentosa 2
β
β
ββ2024β Residue 1
NM_006915.3(RP2):c.87G>A (p.Trp29Ter)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2023β Residue 29
NM_006915.3(RP2):c.450G>A (p.Trp150Ter)Pathogenic
not provided|Retinitis pigmentosa 2
β
β
ββ2023β Residue 150
NM_006915.3(RP2):c.969+2T>CPathogenic
not provided|Retinitis pigmentosa 2
β
β
ββ2023
NM_006915.3(RP2):c.76C>T (p.Gln26Ter)Pathogenic
Retinitis pigmentosa 2|not provided
β
β
ββ2022β Residue 26
NM_006915.3(RP2):c.385_386del (p.Leu129fs)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2022β Residue 129
NM_006915.3(RP2):c.593_594del (p.Tyr198fs)Pathogenic
not provided|Retinitis pigmentosa 2
β
β
ββ2022β Residue 198