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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL2RG, LOC126863274
Single nucleotide variant
(splice donor variant)
X-linked severe combined immunodeficiency
GPathogenic
IL2RG, LOC126863274
(Q15*)
Single nucleotide variant
(nonsense)
X-linked severe combined immunodeficiency
GPathogenic