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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POGZ
(E1031K +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
POGZ
(K311fs +5 more)
Duplication
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GLikely pathogenic