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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRCAP
(Q2237P)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(R2444*)
Single nucleotide variant
(nonsense)
SRCAP-related condition
+6 more
GPathogenic