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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UPF3B
(R341* +1 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 14
+1 more
GLikely pathogenic
UPF3B
(E224D)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance