| | | Single nucleotide variant (missense variant) | Epidermal nevus | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Ovarian neoplasm +7 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +31 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +17 more | |
| | | Single nucleotide variant (missense variant +2 more) | Thanatophoric dysplasia type 1 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypochondroplasia +14 more | |
| | | Single nucleotide variant (stop lost +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |