| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (intron variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis +2 more | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis +1 more | |
Click to view in NCBI Gene