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Links from Gene

Items: 1 to 100 of 544

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYBA
(E53D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYBA
(A124G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYBA
(G128S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BANP, CA5A
+13 more
Deletion
not provided
GUncertain significance
CYBA
Deletion
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely pathogenic
CYBA
Deletion
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Deletion
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
ACSF3, ANKRD11
+36 more
Duplication
KBG syndrome
GUncertain significance
ZNF469, ZNF778
+21 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ADAD2
+87 more
Copy number gain
not provided
GPathogenic
CYBA
Single nucleotide variant
(splice donor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CTU2, CYBA
+8 more
Copy number gain
not specified
GUncertain significance
APRT, CBFA2T3
+14 more
Copy number loss
not specified
GUncertain significance
CYBA
Single nucleotide variant
(intron variant)
CYBA-related disorder
GLikely benign
MVD, PABPN1L
+22 more
Copy number loss
not provided
GPathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(Q35*)
Single nucleotide variant
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Deletion
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(E66*)
Single nucleotide variant
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(S118N)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P156fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(F83fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(E129*)
Single nucleotide variant
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely pathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(splice acceptor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely pathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(G25R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(W6*)
Single nucleotide variant
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(Y37fs)
Duplication
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(W36*)
Single nucleotide variant
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Duplication
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(splice donor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely pathogenic
CYBA
Indel
(inframe_indel)
not specified
GUncertain significance
CYBA
Single nucleotide variant
(intron variant)
not specified
GBenign
CTU2, CYBA
+6 more
Copy number loss
not provided
GUncertain significance
ACSF3, ANKRD11
+20 more
Copy number loss
not provided
GPathogenic
CYBA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYBA
(G177A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYBA
(K71R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACSF3, ANKRD11
+116 more
Deletion
KBG syndrome
GPathogenic
LOC130059772, LOC130059773
+138 more
Deletion
KBG syndrome
GPathogenic
LOC121587566, LOC121587567
+218 more
Deletion
KBG syndrome
GPathogenic
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