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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106029312, NCF1
(R42W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC106029312, NCF1
(W193*)
Single nucleotide variant
(nonsense)
Chronic granulomatous disease
+2 more
GPathogenic/Likely pathogenic