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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPHB4, LOC126860124
(I784V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EPHB4
(Q580*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
EPHB4
(R535W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
EPHB4
(D376fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
EPHB4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
EPHB4
(S299*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
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