| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | SPECC1L-ADORA2A, SPECC1L (M166V) | Single nucleotide variant (non-coding transcript variant +1 more) | SPECC1L-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Teebi hypertelorism syndrome +3 more | |
Click to view in NCBI Gene