| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia | |
| | | Single nucleotide variant (intron variant) | Achondroplasia +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia +1 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided +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) | Crouzon syndrome-acanthosis nigricans syndrome +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | Crouzon syndrome-acanthosis nigricans syndrome +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | FBN1, LOC113939944 (C377Y) | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +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 (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Crouzon syndrome-acanthosis nigricans syndrome +16 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 (missense variant +2 more) | Thanatophoric dysplasia type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypochondroplasia +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant +1 more) | Neurodevelopmental delay +4 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 +31 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR3-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | |