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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IKBKB
(R105W +2 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 15a
GUncertain significance
IKBKB
(R227* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to IKK2 deficiency
+1 more
GPathogenic
IKBKB
(P232L +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to IKK2 deficiency
GConflicting classifications of pathogenicity
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