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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UPF3B
(R366H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
UPF3B
(K354N +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GBenign/Likely benign