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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAG2
(M502V)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
RAG2
(F386L)
Single nucleotide variant
(missense variant)
Recombinase activating gene 2 deficiency
GBenign
RAG2
(G95R)
Single nucleotide variant
(missense variant)
Recombinase activating gene 2 deficiency
GLikely pathogenic
ADA
(A329V +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
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