| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | SPECC1L, SPECC1L-ADORA2A (L188F) | Single nucleotide variant (non-coding transcript variant +1 more) | Teebi hypertelorism syndrome 1 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Teebi hypertelorism syndrome 1 +3 more | |
| | SPECC1L, SPECC1L-ADORA2A (T717A) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
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