| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EPHB4, LOC126860124 (K859R) | Single nucleotide variant (missense variant) | Lymphatic malformation 7 +1 more | |
| | EPHB4, LOC126860124 (P841L) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
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