NM_020843.4(SCAPER):c.2605A>T (p.Lys869Ter)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2025→ Residue 869
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)Pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2024→ Residue 727
NM_020843.4(SCAPER):c.1461_1462insGTGGTATATCC (p.Met488fs)Pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2024→ Residue 488
NM_020843.4(SCAPER):c.2364T>A (p.Tyr788Ter)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2024→ Residue 788
NM_020843.4(SCAPER):c.2444_2445dup (p.His816fs)Likely pathogenic
SCAPER-related disorder
★☆☆☆2023→ Residue 816
NM_020843.4(SCAPER):c.3267dup (p.Ser1090fs)Likely pathogenic
SCAPER-related disorder
★☆☆☆2023→ Residue 1090
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2023→ Residue 361
NM_020843.4(SCAPER):c.2436del (p.Arg814fs)Pathogenic
Inborn genetic diseases
★☆☆☆2022→ Residue 814
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs)Pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP|not provided
★☆☆☆2022→ Residue 746
NM_020843.4(SCAPER):c.125-1G>ALikely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2022
NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2022→ Residue 988
NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2022→ Residue 112
NM_020843.4(SCAPER):c.2955-1G>TLikely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP|SCAPER-related disorder
★☆☆☆2019
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)Pathogenic
not provided|Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2019→ Residue 793
NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs)Pathogenic
Moderate intellectual disability;Rod-cone dystrophy;Attention deficit hyperactivity disorder|Intellectual developmental disorder and retinitis pigmentosa; IDDRP
★☆☆☆2017→ Residue 991
NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)Pathogenic
6 conditions
★☆☆☆→ Residue 935
NM_020843.4(SCAPER):c.306C>G (p.Tyr102Ter)Likely pathogenic
SCAPER-related disorder
☆☆☆☆2024→ Residue 102
NM_020843.4(SCAPER):c.2023-2A>GPathogenic
Retinitis pigmentosa|Intellectual developmental disorder and retinitis pigmentosa; IDDRP|Syndromic retinitis pigmentosa
☆☆☆☆2019
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
☆☆☆☆2019→ Residue 1075
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs)Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
☆☆☆☆2019→ Residue 1236