| | | Single nucleotide variant (missense variant) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia | |
| | | Single nucleotide variant (intron variant) | Achondroplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Achondroplasia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +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) | Achondroplasia +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia | |
| | | Deletion | Achondroplasia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | LOC113939944, FBN1 (C377Y) | Single nucleotide variant (missense variant) | Achondroplasia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Crouzon syndrome-acanthosis nigricans syndrome +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (intron variant) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Genu varum +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Achondroplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +16 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hypochondroplasia +16 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related chondrodysplasia +16 more | |
| | | Single nucleotide variant (stop lost +2 more) | Achondroplasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | Thanatophoric dysplasia type 1 +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Camptodactyly-tall stature-scoliosis-hearing loss syndrome +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Coronal craniosynostosis +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +4 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muenke syndrome +35 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +15 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | Camptodactyly-tall stature-scoliosis-hearing loss syndrome +17 more | |