| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (inframe_insertion) | Venous malformation | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Insertion (inframe_insertion) | Capillary Telangiectasia, Brain | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +14 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
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