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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYBA
Microsatellite
(inframe_insertion)
not provided
+2 more
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
(R139fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CYBA
(E135K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CYBA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYBA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CYBA
Deletion
(splice acceptor variant)
Chronic granulomatous disease
+2 more
GLikely pathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+3 more
GConflicting classifications of pathogenicity
CYBA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CYBA
(K60T)
Single nucleotide variant
(missense variant)
CYBA-related condition
+3 more
GBenign/Likely benign
CYBA
(K58R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+1 more
GUncertain significance
CYBA
(V47M)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+1 more
GUncertain significance
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