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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADA2
(R49fs +1 more)
Deletion
(frameshift variant +1 more)
Sneddon syndrome
+1 more
GPathogenic
ADA2
Single nucleotide variant
(intron variant +1 more)
Vasculitis due to ADA2 deficiency
GLikely pathogenic