| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | EPHB4-associated vascular malformation spectrum | |
| | EPHB4, LOC126860124 (D823fs) | Deletion (frameshift variant) | EPHB4-associated vascular malformation spectrum | |
Click to view in NCBI Gene