| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Muenke syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +17 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypochondroplasia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen syndrome +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +3 more | |
Click to view in NCBI Gene