Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126653398, TSPEAR
+1 more (V508del +1 more) | Deletion (inframe_deletion) | Tooth agenesis, selective, 10 | |
| | | Duplication (frameshift variant) | Tooth agenesis, selective, 10 | |
| | LOC126653398, TSPEAR
+1 more (Q555* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Tooth agenesis, selective, 10 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Tooth agenesis, selective, 10 | |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 10 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | LOC126653398, TSPEAR
+1 more (K577fs +1 more) | Deletion (frameshift variant) | Tooth agenesis, selective, 10 | |
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