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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WAC
(Q226* +1 more)
Single nucleotide variant
(nonsense +1 more)
DeSanto-Shinawi syndrome due to WAC point mutation
GLikely pathogenic
WAC
(S367fs +2 more)
Deletion
(frameshift variant)
DeSanto-Shinawi syndrome due to WAC point mutation
GLikely pathogenic