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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARD11
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CARD11
(R379Q)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+2 more
GUncertain significance