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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAG1
(Q242R)
Single nucleotide variant
(missense variant)
Recombinase activating gene 1 deficiency
GLikely benign
RAG1
(H249R)
Single nucleotide variant
(no sequence alteration +1 more)
Recombinase activating gene 1 deficiency
GBenign
RAG1
(R404Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
RAG1
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
+4 more
GConflicting classifications of pathogenicity
RAG1
Single nucleotide variant
(synonymous variant)
Recombinase activating gene 1 deficiency
GLikely benign
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