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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPHB4
(A929T)
Single nucleotide variant
(missense variant)
Lymphatic malformation 7
GUncertain significance
EPHB4
(S299L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 7
+1 more
GUncertain significance
EPHB4
(H738R)
Single nucleotide variant
(missense variant)
Lymphatic malformation 7
GUncertain significance
EPHB4, LOC126860124
(P841L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
EPHB4, LOC126860124
(K859R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
EPHB4, LOC126860124
(R785Q)
Single nucleotide variant
(missense variant)
EPHB4-related disorder
+1 more
GPathogenic/Likely pathogenic
EPHB4
(V84I)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
+2 more
GConflicting classifications of pathogenicity
EPHB4
(A509G)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
+1 more
GUncertain significance
EPHB4
(T356S)
Single nucleotide variant
(missense variant)
Lymphatic malformation 7
+3 more
GConflicting classifications of pathogenicity
EPHB4
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
EPHB4, SLC12A9
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
EPHB4
(A371V)
Single nucleotide variant
(missense variant)
Lymphatic malformation 7
+3 more
GBenign/Likely benign
EPHB4
(L954fs)
Microsatellite
(frameshift variant)
Lymphatic malformation 7
GLikely pathogenic
EPHB4, LOC126860124
(C856Y)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
+1 more
GConflicting classifications of pathogenicity
EPHB4
Single nucleotide variant
(splice donor variant)
Lymphatic malformation 7
GPathogenic
EPHB4, LOC126860124
(I782S)
Single nucleotide variant
(missense variant)
Lymphatic malformation 7
GPathogenic
EPHB4
(R739Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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