| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SPECC1L, SPECC1L-ADORA2A (R540H) | Single nucleotide variant (non-coding transcript variant +1 more) | Craniosynostosis syndrome +1 more | GConflicting classifications of pathogenicity |
| | SPECC1L, SPECC1L-ADORA2A (R639*) | Single nucleotide variant (non-coding transcript variant +1 more) | Craniosynostosis syndrome | |
Click to view in NCBI Gene