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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYBA
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(3 prime UTR variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+2 more
GBenign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GConflicting classifications of pathogenicity
CYBA
(V174A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CYBA
(A101T)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(Y72H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CYBA
(K58fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CYBA
(V47M)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+1 more
GUncertain significance
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
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