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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(R971* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 1
+1 more
GPathogenic/Likely pathogenic
IQSEC2
(Q646* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 1
GLikely pathogenic
IQSEC2
(R609C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
+1 more
GConflicting classifications of pathogenicity
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