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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCF4, NCF4-AS1
(R57L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(T85N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(T216M)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
+2 more
GConflicting classifications of pathogenicity
NCF4
(F219L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(L274F)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
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