| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cervical cancer +14 more | |
| | | Single nucleotide variant (intron variant) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Achondroplasia +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | Crouzon syndrome-acanthosis nigricans syndrome +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | Crouzon syndrome-acanthosis nigricans syndrome +14 more | |
| | HRAS, LRRC56 (R164P +1 more) | Single nucleotide variant (missense variant +1 more) | Large congenital melanocytic nevus +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-capillary malformation-polymicrogyria syndrome +2 more | |
| | LRRC56, HRAS (T31P +1 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +15 more | |
| | HRAS, LRRC56 (R161C +1 more) | Single nucleotide variant (missense variant +1 more) | Linear nevus sebaceous syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +14 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +16 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | RASopathy +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +14 more | |
| | | Single nucleotide variant (intron variant) | Achondroplasia +14 more | |
| | | Single nucleotide variant (intron variant) | RASopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Large congenital melanocytic nevus +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +14 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Crouzon syndrome-acanthosis nigricans syndrome +16 more | |
| | HRAS, LRRC56 (R169Q +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +8 more | |
| | HRAS, LRRC56 (R169W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +16 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +15 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided +14 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +8 more | |
| | HRAS, LRRC56 (P174S +1 more) | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | HRAS, LRRC56 (K170* +1 more) | Single nucleotide variant (nonsense +1 more) | Costello syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +17 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epidermal nevus | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome and Noonan-related syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Thanatophoric dysplasia type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypochondroplasia +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost +2 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 +31 more | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | |
| | | Single nucleotide variant (missense variant) | Large congenital melanocytic nevus +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermal nevus +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |