| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | SPECC1L, SPECC1L-ADORA2A (L431P) | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant Opitz G/BBB syndrome | |
| | SPECC1L, SPECC1L-ADORA2A (D1000V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Teebi hypertelorism syndrome +1 more | |
Click to view in NCBI Gene