Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Duplication (frameshift variant) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Deletion (inframe_indel +1 more) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Deletion (frameshift variant) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +1 more | GConflicting classifications of pathogenicity |
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