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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DUOX2
(R885*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
DUOX2
(G488R)
Single nucleotide variant
(missense variant)
DUOX2-related disorder
+4 more
GPathogenic/Likely pathogenic