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Items: 4

  • Ignored empty double quoted string.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106029312, NCF1
(Y26fs)
Microsatellite
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
+1 more
GPathogenic
LOC106029312, NCF1
(R90H)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
GUncertain significance
CYBB
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, X-linked
GLikely pathogenic
CYBB
(G389R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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