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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGK, IGKC
(V216L)
Single nucleotide variant
(missense variant +1 more)
IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv2
GBenign
IGK, IGKC
(V216L +1 more)
Single nucleotide variant
(missense variant)
IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv1
GBenign
IGK, IGKC
Variation
(synonymous variant)
IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv3
GBenign
IGK, IGKC
(W173G)
Single nucleotide variant
(missense variant)
Recurrent infections associated with rare immunoglobulin isotypes deficiency
GPathogenic
IGK, IGKC
(W173R)
Single nucleotide variant
(missense variant)
Recurrent infections associated with rare immunoglobulin isotypes deficiency
GPathogenic
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