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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADA
(E184fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ADA
(L107P +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency disease
+2 more
GPathogenic/Likely pathogenic