| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muenke syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +31 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (stop lost +2 more) | Achondroplasia +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene