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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WAC
(R505* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
WAC
(L629fs +2 more)
Deletion
(frameshift variant)
DeSanto-Shinawi syndrome due to WAC point mutation
Gnot provided