| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 +31 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) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +4 more | |
Click to view in NCBI Gene