| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | EPHB4-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | EPHB4-associated vascular malformation spectrum | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Lymphatic malformation 7 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (nonsense) | EPHB4-related disorders | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | EPHB4, LOC126860124 (G893R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | EPHB4, LOC126860124 (E890D) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | LOC126860124, EPHB4 (R889Q) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | EPHB4, LOC126860124 (R889W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | EPHB4, LOC126860124 (A882T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | LOC126860124, EPHB4 (R879W) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | LOC126860124, EPHB4 (L874P) | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation 2 +1 more | |
| | EPHB4, LOC126860124 (L874V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | EPHB4, LOC126860124 (V870E) | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation 2 | |
| | EPHB4, LOC126860124 (Q869fs) | Duplication (frameshift variant) | Capillary malformation-arteriovenous malformation 2 | |
| | EPHB4, LOC126860124 (F867S) | Single nucleotide variant (missense variant) | Arteriovenous malformation | |
| | LOC126860124, EPHB4 (F867L) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | EPHB4, LOC126860124 (Q858fs) | Deletion (frameshift variant) | EPHB4-related condition | |
| | EPHB4, LOC126860124 (R866H) | Single nucleotide variant (missense variant) | EPHB4-related condition | |
| | EPHB4, LOC126860124 (R864W) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | EPHB4, LOC126860124 (K859R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | EPHB4, LOC126860124 (C856Y) | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation 2 +1 more | GConflicting classifications of pathogenicity |
| | EPHB4, LOC126860124 (L854P) | Single nucleotide variant (missense variant) | not provided | |
| | EPHB4, LOC126860124 (Q851P) | Indel (missense variant) | not provided | |
| | EPHB4, LOC126860124 (P846H) | Single nucleotide variant (missense variant) | not provided | |
| | EPHB4, LOC126860124 (P846R) | Single nucleotide variant (missense variant) | not provided | |
| | EPHB4, LOC126860124 (C845S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EPHB4, LOC126860124 (C845R) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | EPHB4, LOC126860124 (P841L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | EPHB4, LOC126860124 (R838W) | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (splice acceptor variant) | EPHB4-related condition | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | EPHB4-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |