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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AEBP1
(W356*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(Y951*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(E1128D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic-like, 2
GUncertain significance
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