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Items: 1 to 100 of 751

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
UFSP1, VGF
+299 more
Copy number gain
See cases
GPathogenic
LOC129998966, LOC129998967
+309 more
Copy number loss
See cases
GPathogenic
CNPY4, COPS6
+227 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
EPHB4
Microsatellite
(3 prime UTR variant)
not provided
GBenign
EPHB4
Single nucleotide variant
(3 prime UTR variant)
EPHB4-related disorder
GLikely benign
EPHB4
(Q986R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
EPHB4
(P985L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign
EPHB4
(P983L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
EPHB4
(P983R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EPHB4
(P977L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
EPHB4
(G975R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(A972D)
Single nucleotide variant
(missense variant)
EPHB4-associated vascular malformation spectrum
GUncertain significance
EPHB4
(Q971R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(S970P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(V965I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(S964G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(K959N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(A955V)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
EPHB4
(L954fs)
Microsatellite
(frameshift variant)
Lymphatic malformation 7
GLikely pathogenic
EPHB4
(G951R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(R949Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(R949*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(L947M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(D946E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(D946G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GLikely benign
EPHB4
Single nucleotide variant
(intron variant)
not provided
GBenign
EPHB4
Single nucleotide variant
(intron variant)
not provided
GBenign
EPHB4
Single nucleotide variant
(intron variant)
not provided
GBenign
EPHB4
Single nucleotide variant
(intron variant)
not provided
GBenign
EPHB4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(E937Q)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(A931T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
EPHB4
(Y924*)
Single nucleotide variant
(nonsense)
EPHB4-related disorder
GLikely pathogenic
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(Y924*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
EPHB4
(Y924C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(Y924N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(R923G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EPHB4
(I919V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(R917Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPHB4
(Y906*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
(R902W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
EPHB4
(D900H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EPHB4
(P897S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(P897A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(P897T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4
(H896Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPHB4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4
Single nucleotide variant
(intron variant)
not provided
GBenign
EPHB4, LOC126860124
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EPHB4, LOC126860124
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EPHB4, LOC126860124
(G893R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
EPHB4, LOC126860124
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4, LOC126860124
(E890D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
EPHB4, LOC126860124
(R889Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
EPHB4, LOC126860124
(R889W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPHB4, LOC126860124
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EPHB4, LOC126860124
(K885R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPHB4, LOC126860124
(A882T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
EPHB4, LOC126860124
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
EPHB4, LOC126860124
(R879W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EPHB4, LOC126860124
(I878V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
LOC126860124, EPHB4
(L874P)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
+1 more
GUncertain significance
EPHB4, LOC126860124
(L874V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
EPHB4, LOC126860124
(A873T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
EPHB4, LOC126860124
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EPHB4, LOC126860124
(V870E)
Single nucleotide variant
(missense variant)
Capillary malformation-arteriovenous malformation 2
GUncertain significance
EPHB4, LOC126860124
(Q869fs)
Duplication
(frameshift variant)
Capillary malformation-arteriovenous malformation 2
GPathogenic
EPHB4, LOC126860124
(F867S)
Single nucleotide variant
(missense variant)
Arteriovenous malformation
GPathogenic
LOC126860124, EPHB4
(F867L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EPHB4, LOC126860124
(Q858fs)
Deletion
(frameshift variant)
EPHB4-related disorder
GUncertain significance
EPHB4, LOC126860124
(R866H)
Single nucleotide variant
(missense variant)
EPHB4-related disorder
GUncertain significance
EPHB4, LOC126860124
(R864W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EPHB4, LOC126860124
(K859R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
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
GUncertain significance
EPHB4, LOC126860124
(Q851P)
Indel
(missense variant)
not provided
GUncertain significance
EPHB4, LOC126860124
(P846H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPHB4, LOC126860124
(P846R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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