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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCLRE1C
(G153R +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
RAG1
(A69G)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+3 more
GUncertain significance
RAG1
(Y333H)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to partial RAG1 deficiency
+4 more
GUncertain significance
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