| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SPECC1L, SPECC1L-ADORA2A (L188F) | Single nucleotide variant (non-coding transcript variant +1 more) | Teebi hypertelorism syndrome 1 +2 more | |
| | SPECC1L, SPECC1L-ADORA2A (R634*) | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | SPECC1L, SPECC1L-ADORA2A (R1098Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
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