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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
(Y369* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Deletion
(splice donor variant +1 more)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(R255* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BTK
(R28C +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GPathogenic
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