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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR26
Single nucleotide variant
(splice donor variant)
Skraban-Deardorff syndrome
GPathogenic
WDR26
(S439R +2 more)
Single nucleotide variant
(missense variant)
Skraban-Deardorff syndrome
GUncertain significance