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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL2RG
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GPathogenic
IL2RG
(P80L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL2RG
(E68K)
Single nucleotide variant
(missense variant)
X-linked severe combined immunodeficiency
GPathogenic
IL2RG
(T44A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IL2RG, LOC126863274
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
IL2RG, LOC126863274
(N33S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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