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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(S1093W +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GPathogenic
IQSEC2
(R737fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, X-linked 1
GPathogenic
IQSEC2
(P80fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
IQSEC2
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, X-linked 1
GLikely pathogenic
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