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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(Q952* +1 more)
Single nucleotide variant
(nonsense)
Severe intellectual deficiency
+1 more
GLikely pathogenic
IQSEC2
(Y64fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic