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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106029312, NCF1
(R90H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYBB
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, X-linked
+2 more
GPathogenic
CYBB
(I221T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CYBB
(P258A)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, X-linked
+1 more
GUncertain significance
CYBB
(G364R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, X-linked
+2 more
GBenign/Likely benign
CYBB
(A431T)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, X-linked
+1 more
GUncertain significance
CYBB
(G472S)
Single nucleotide variant
(missense variant)
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
+4 more
GConflicting classifications of pathogenicity
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