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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP, LOC130058353
(P578S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GConflicting classifications of pathogenicity
CREBBP, LOC130058353
(N570S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance