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Links from MedGen

Items: 1 to 100 of 419

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYBA
Single nucleotide variant
(splice donor 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
(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
FANCA, MC1R
+45 more
Duplication
Primary ciliary dyskinesia 33
+1 more
GUncertain significance
CYBA
(G181R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+1 more
GUncertain significance
CYBA
(R56Q)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(A14V)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+1 more
GUncertain significance
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
(P160L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(A117E)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(G62S)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P142R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(K60R)
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
(E12K)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P189L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(G119S)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(G81R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
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
(A163D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CYBA
(V77M)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(R85T)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(G39A)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
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