| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (intron variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Deletion (intron variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | LOC130068032, RPS6KA3 (K12R) | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Deletion (intron variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Deletion (intron variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (intron variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (intron variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 19 | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome | |
| | | Duplication (frameshift variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Coffin-Lowry syndrome +1 more | |
| | | Deletion | Coffin-Lowry syndrome +5 more | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (nonsense) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Coffin-Lowry syndrome | |
| | | Duplication | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | LOC130068032, RPS6KA3 (S17N) | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (missense variant) | RPS6KA3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | 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) | 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 (nonsense) | 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 (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 | |
| | | Insertion (nonsense) | 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 (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 (intron 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 (intron 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 (intron variant) | Coffin-Lowry syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Lowry syndrome +1 more | |