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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIITA
(G568S +4 more)
Single nucleotide variant
(missense variant +1 more)
MHC class II deficiency
+1 more
GUncertain significance
CIITA
Duplication
(splice donor variant)
not provided
GLikely pathogenic