NM_000539.3(RHO):c.553T>C (p.Cys185Arg)Pathogenic
Retinitis pigmentosa 4|not provided|Retinal disorder
★★☆☆2026→ Residue 185
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)Pathogenic
Retinitis pigmentosa 4|Retinitis pigmentosa|not provided|Retinal dystrophy|RHO-related disorder
★★☆☆2026→ Residue 181
NM_000539.3(RHO):c.936+1G>TPathogenic
not provided|Retinitis pigmentosa 4|Retinitis pigmentosa|Retinal disorder
★★☆☆2026
NM_000539.3(RHO):c.68C>A (p.Pro23His)Pathogenic
Retinitis pigmentosa 4|not provided|Congenital stationary night blindness autosomal dominant 1;Pigmentary retinal dystrophy;Retinitis pigmentosa 4|Retinal dystrophy|RHO-related disorder
★★☆☆2026→ Residue 23
NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu)Pathogenic
not provided|Retinal dystrophy
★★☆☆2026→ Residue 135
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)Pathogenic
Retinitis pigmentosa|not provided|Retinitis pigmentosa 4|Retinal dystrophy
★★☆☆2026→ Residue 60
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)Pathogenic
Retinitis pigmentosa 4|Retinitis pigmentosa|not provided|Peripheral visual field loss;Blurred vision;Night blindness|Retinal dystrophy|Microcephaly 17, primary, autosomal recessive|RHO-related disorder|Retinal disorder
★★☆☆2026→ Residue 347
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)Pathogenic
Retinitis punctata albescens|Retinitis pigmentosa 4|Retinitis pigmentosa|not provided|Retinal dystrophy|RHO-related disorder
★★☆☆2026→ Residue 135
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)Pathogenic
Retinitis pigmentosa 4|not provided
★★☆☆2026→ Residue 136
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)Pathogenic
Retinitis pigmentosa|Retinitis pigmentosa 4|not provided
★★☆☆2025→ Residue 170
NM_000539.3(RHO):c.151G>C (p.Gly51Arg)Pathogenic
Retinitis pigmentosa 4|not provided|RHO-related disorder
★★☆☆2025→ Residue 51
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)Pathogenic
Retinitis pigmentosa 4|Retinitis pigmentosa|Retinal dystrophy|not provided
★★☆☆2025→ Residue 106
NM_000539.3(RHO):c.317G>T (p.Gly106Val)Likely pathogenic
Retinitis pigmentosa 4|not provided
★★☆☆2025→ Residue 106
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)Pathogenic
Retinitis pigmentosa 4|Retinal dystrophy|not provided|RHO-related disorder|Retinal disorder
★★☆☆2025→ Residue 58
NM_000539.3(RHO):c.512C>G (p.Pro171Arg)Pathogenic
not provided|Retinitis pigmentosa
★★☆☆2025→ Residue 171
NM_000539.3(RHO):c.491C>T (p.Ala164Val)Pathogenic
Congenital stationary night blindness autosomal dominant 1|Cone-rod dystrophy|Retinitis pigmentosa|Retinitis pigmentosa 4|not provided|Retinal dystrophy
★★☆☆2025→ Residue 164
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)Pathogenic
Retinitis pigmentosa 4|Retinitis pigmentosa|not provided|Retinal dystrophy
★★☆☆2025→ Residue 15
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)Pathogenic
Retinitis pigmentosa 4, autosomal recessive|not provided|Retinal dystrophy
★★☆☆2025→ Residue 249
NM_000539.3(RHO):c.50C>T (p.Thr17Met)Pathogenic
Retinitis pigmentosa 4|Retinitis pigmentosa|not specified|Retinal dystrophy|not provided
★★☆☆2025→ Residue 17
NM_000539.3(RHO):c.937-1G>APathogenic
not provided|Retinitis pigmentosa 4
★★☆☆2025