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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD40LG
Microsatellite
(splice acceptor variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(H212fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GLikely pathogenic