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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPI1
(V242G +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 10, autosomal dominant
GLikely pathogenic
SPI1
(H212P +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 10, autosomal dominant
GLikely pathogenic
SPI1
(Y122* +1 more)
Single nucleotide variant
(nonsense)
Agammaglobulinemia 10, autosomal dominant
GPathogenic
SPI1
(Q110* +1 more)
Single nucleotide variant
(nonsense)
Agammaglobulinemia 10, autosomal dominant
GPathogenic
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