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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAG2
(G451A)
Single nucleotide variant
(missense variant)
Recombinase activating gene 2 deficiency
GPathogenic
RAG2
(L348*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic