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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIRE
(R257*)
Single nucleotide variant
(nonsense)
Polyglandular autoimmune syndrome, type 1
+2 more
GPathogenic
AIRE
(G306R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity