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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
(R525* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
BTK
(R288W +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
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