| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | SPECC1L, SPECC1L-ADORA2A (V17M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Oculomaxillofacial dysostosis +3 more | |
Click to view in NCBI Gene