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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCF2
(P454S +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
NCF2
(N419I +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
NCF2
(R395W +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NCF2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NCF2
(H389Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NCF2
(V297A +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
NCF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NCF2
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
+2 more
GBenign
NCF2
(Q189* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
NCF2
(R188K +1 more)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
+3 more
GConflicting classifications of pathogenicity
NCF2
(R38Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NCF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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