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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KPNA7
(L349P)
Single nucleotide variant
(missense variant)
Intellectual disability, mild
GUncertain significance
KPNA7
(R36*)
Single nucleotide variant
(nonsense)
Intellectual disability, mild
+1 more
GConflicting classifications of pathogenicity