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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAG2
(L466F)
Single nucleotide variant
(missense variant)
Recombinase activating gene 2 deficiency
GLikely pathogenic
RAG2
(E410Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAG2
(Y402C)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+2 more
GUncertain significance
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