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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BTK
(S289R +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GConflicting classifications of pathogenicity
BTK
(R288W +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
Single nucleotide variant
(splice donor variant)
X-linked agammaglobulinemia
+1 more
GLikely pathogenic
BTK
(W124C +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(R28H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
BTK
(R28C +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GPathogenic
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