| | | Duplication | Costello syndrome | |
| | | Duplication | Costello syndrome | |
| | | Duplication | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (T158K +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (T158fs +1 more) | Indel (frameshift variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (G115R +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (T10A +1 more) | Single nucleotide variant (missense variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (P42A +1 more) | Single nucleotide variant (missense variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (V125G +1 more) | Single nucleotide variant (missense variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (D132G +1 more) | Single nucleotide variant (missense variant) | Costello syndrome | |
| | | Deletion (splice donor variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (Q165K +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (N93K +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (D154Y +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (V125fs +1 more) | Deletion (frameshift variant) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (E153* +1 more) | Single nucleotide variant (nonsense +1 more) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (I142del +1 more) | Deletion (inframe_deletion) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (G99S +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (S136T +1 more) | Single nucleotide variant (missense variant) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (G101R +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (L92V +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Duplication | not provided | |
| | HRAS, LRRC56 (E126* +1 more) | Single nucleotide variant (nonsense +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (I163M +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Duplication (frameshift variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (S98fs +1 more) | Microsatellite (frameshift variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (G151R +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (T158R +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (L159F +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HRAS, LRRC56 (E162D +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | HRAS, LRRC56 (G151R +1 more) | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (intron variant) | Costello syndrome | |
| | LRRC56, HRAS (S110del +1 more) | Deletion (inframe_deletion +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |