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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIRE
(C437*)
Single nucleotide variant
(nonsense)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic
AIRE
(G467fs)
Duplication
(frameshift variant)
Polyglandular autoimmune syndrome, type 1
GLikely pathogenic