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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFNGR1
(H335P +2 more)
Single nucleotide variant
(missense variant)
Disseminated atypical mycobacterial infection
+7 more
GBenign/Likely benign
IFNGR1
(N233fs +2 more)
Deletion
(frameshift variant)
IFN-gamma receptor 1 deficiency
+7 more
GPathogenic