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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSMB8
(R129C +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+1 more
GUncertain significance
PSMB8
(D119N +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance