| | | Single nucleotide variant (splice acceptor variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Deletion (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Deletion (splice donor variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Duplication (frameshift variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Insertion (nonsense) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Deletion (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome | |
| | | Duplication | Coffin-Lowry syndrome +1 more | |
| | | Duplication | Coffin-Lowry syndrome +1 more | |
| | | Deletion | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related condition +2 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Microsatellite (frameshift variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |
| | | Duplication (splice donor variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related condition +2 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related condition +2 more | |
| | | Single nucleotide variant (intron variant) | RPS6KA3-related condition +2 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Coffin-Lowry syndrome +1 more | |