| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | LOC130057730, LOC132090332 +175 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | Schizophrenia | |
| | LOC126862183, SCAPER (S1104N +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126862183, SCAPER (R1098Q +4 more) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | LOC126862183, SCAPER (N969S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126862183, SCAPER (G1092S +4 more) | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | LOC126862183, SCAPER (S1090fs +4 more) | Duplication (frameshift variant +1 more) | SCAPER-related disorder | |
| | LOC126862183, SCAPER (P1089T +4 more) | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more | |
| | LOC126862183, SCAPER (P953L +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126862183, SCAPER (P829fs +4 more) | Deletion (frameshift variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | LOC126862183, SCAPER (R1068Q +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126862183, SCAPER (N1067S +4 more) | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | LOC126862183, SCAPER (V1060I +4 more) | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | LOC126862183, SCAPER (S1057N +4 more) | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | LOC126862183, SCAPER (G1048V +4 more) | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | LOC126862183, SCAPER (G792E +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | | Single nucleotide variant (synonymous variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Microsatellite (frameshift variant +1 more) | Attention deficit hyperactivity disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (intron variant) | SCAPER-related disorder | |
| | | Deletion (nonsense +1 more) | Obesity +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SCAPER-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | SCAPER-related disorder | |