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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP
(Q2046* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(P1909fs +1 more)
Duplication
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GPathogenic/Likely pathogenic
CREBBP
(I1611fs +1 more)
Deletion
(frameshift variant)
CREBBP-related disorder
GPathogenic
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