NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)Pathogenic
Retinitis punctata albescens|RLBP1-related disorder|Retinitis pigmentosa|Retinal dystrophy|not provided|Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy;Bothnia retinal dystrophy|Retinal disorder|Bothnia retinal dystrophy;Retinitis punctata albescens
β
β
ββ2026β Residue 226
NM_000326.5(RLBP1):c.282del (p.Phe95fs)Pathogenic
not provided|Newfoundland cone-rod dystrophy|Pigmentary retinal dystrophy|Bothnia retinal dystrophy;Pigmentary retinal dystrophy;Newfoundland cone-rod dystrophy|Retinitis pigmentosa
β
β
ββ2026β Residue 95
NM_000326.5(RLBP1):c.832del (p.Gln278fs)Pathogenic
not provided|Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy;Bothnia retinal dystrophy
β
β
ββ2026β Residue 278
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)Pathogenic
Bothnia retinal dystrophy|Retinitis punctata albescens|RLBP1-related disorder|Retinitis pigmentosa|not provided|Retinal dystrophy
β
β
ββ2026β Residue 234
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)Pathogenic
not provided|Bothnia retinal dystrophy|Retinal dystrophy|Retinitis punctata albescens|Autosomal recessive retinitis pigmentosa|Abnormality of the eye|Retinitis pigmentosa|Pigmentary retinal dystrophy
β
β
ββ2025β Residue 96
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)Pathogenic
Pigmentary retinal dystrophy|not provided|Retinitis pigmentosa
β
β
ββ2025β Residue 251
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)Pathogenic
Pigmentary retinal dystrophy|Retinitis punctata albescens|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa|not provided|Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy;Bothnia retinal dystrophy|Bothnia retinal dystrophy|RLBP1-related disorder
β
β
ββ2025β Residue 151
NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2025β Residue 64
NM_000326.5(RLBP1):c.141G>A (p.Lys47=)Pathogenic
Newfoundland cone-rod dystrophy|Retinitis punctata albescens|not provided|Retinitis pigmentosa
β
β
ββ2025β Residue 47
NM_000326.5(RLBP1):c.13-1G>CPathogenic
not provided|Retinitis pigmentosa|RLBP1-related disorder
β
β
ββ2025
NM_000326.5(RLBP1):c.141+2T>CPathogenic
not provided|RLBP1-related disorder|Newfoundland cone-rod dystrophy|Bothnia retinal dystrophy;Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy
β
β
ββ2025
NM_000326.5(RLBP1):c.466C>T (p.Arg156Ter)Pathogenic
not provided|Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy;Bothnia retinal dystrophy
β
β
ββ2024β Residue 156
NM_000326.5(RLBP1):c.12+2delLikely pathogenic
not provided|Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy;Bothnia retinal dystrophy
β
β
ββ2024
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)Pathogenic
Retinitis pigmentosa|not provided
β
β
ββ2023β Residue 151
NM_000326.5(RLBP1):c.333T>G (p.Tyr111Ter)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2023β Residue 111
NM_000326.5(RLBP1):c.255_258dup (p.Arg87fs)Pathogenic
Retinitis pigmentosa|not provided
β
β
ββ2020β Residue 87
NM_000326.5(RLBP1):c.508G>T (p.Glu170Ter)Pathogenic
not provided
β
βββ2026β Residue 170
NM_000326.5(RLBP1):c.795+1G>APathogenic
not provided
β
βββ2026
NM_000326.5(RLBP1):c.141+2T>GPathogenic
not provided
β
βββ2026
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg)Pathogenic
Retinitis pigmentosa|not provided
β
βββ2025β Residue 116