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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCF2
(R184* +1 more)
Single nucleotide variant
(nonsense +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
+1 more
GPathogenic/Likely pathogenic
NCF2
(R38Q)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
+2 more
GConflicting classifications of pathogenicity