| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital heart defects and skeletal malformations syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects and skeletal malformations syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects and skeletal malformations syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects and skeletal malformations syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital heart defects and skeletal malformations syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene