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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIRE
(R257*)
Single nucleotide variant
(nonsense)
AIRE-related disorder
+2 more
GPathogenic
AIRE
(T441M)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
+2 more
GConflicting classifications of pathogenicity
AIRE
Single nucleotide variant
(intron variant)
Polyglandular autoimmune syndrome, type 1
GUncertain significance
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