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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(T1893fs +1 more)
Duplication
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
Single nucleotide variant
(splice donor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GPathogenic
CREBBP
(P775fs +1 more)
Insertion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
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