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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POGZ
(I1217fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Gnot provided
POGZ
(E1145fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+3 more
GPathogenic/Likely pathogenic
POGZ
(Q1014fs +4 more)
Deletion
(frameshift variant)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+4 more
GPathogenic/Likely pathogenic
POGZ
(R1001* +4 more)
Single nucleotide variant
(nonsense)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
+1 more
GPathogenic
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