| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Segmental undergrowth associated with mainly venous malformation with capillary component +2 more | GPathogenic/Likely pathogenic |
| | CCNH, RASA1 (W181* +1 more) | Single nucleotide variant (nonsense +1 more) | Angioosteohypertrophic syndrome | |
| | CCNH, RASA1 (Y256* +1 more) | Single nucleotide variant (nonsense +1 more) | Angioosteohypertrophic syndrome | |
| | CCNH, RASA1 (K484fs +1 more) | Duplication (frameshift variant +1 more) | Angioosteohypertrophic syndrome | |
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