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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMG8
(Q512fs)
Deletion
(frameshift variant)
Alzahrani-Kuwahara syndrome
GLikely pathogenic
SMG8
(Y556*)
Duplication
(nonsense)
Alzahrani-Kuwahara syndrome
GPathogenic