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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
(R255* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BTK
(Y100* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GPathogenic