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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPHB4
(N745D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EPHB4
(A725T)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
+1 more
GConflicting classifications of pathogenicity
EPHB4
(G514D)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
GLikely pathogenic
EPHB4
(M94I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(E59K)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
+1 more
GConflicting classifications of pathogenicity
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