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Links from MedGen

Items: 1 to 100 of 313

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Deletion
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GBenign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(R174S)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(L327*)
Single nucleotide variant
(nonsense +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4
(R153fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(V123fs)
Deletion
(non-coding transcript variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(F265fs)
Deletion
(frameshift variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4, NCF4-AS1
(G74R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
+1 more
GUncertain significance
NCF4
(K205fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely pathogenic
NCF4
(W207R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(Q322*)
Single nucleotide variant
(nonsense +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
NCF4
(R148H)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(R149Q)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(I101V)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(H316Y)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(V95M)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(L272P)
Inversion
(intron variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(L266P)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(P220L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Microsatellite
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(R338W +1 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(L189P)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(D206G)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(E30K)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(E176Q)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(Q292R)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(G259R)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GBenign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(E14G)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(N110K)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(L269P)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(A9G)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(G290S)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(P263fs)
Insertion
(frameshift variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4, NCF4-AS1
Deletion
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(F321L)
Single nucleotide variant
(intron variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(A261T)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(G34A)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(H295Y)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(A193G)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(P333R)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(R308Q)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(P265S)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(D260E +1 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
(S281C)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(Q329*)
Single nucleotide variant
(nonsense +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4
(W306R)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(W207C)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(E103K)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(T36I)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(L86fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4
(M170V)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4-AS1, NCF4
(P87L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(P313S)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4
(V303G)
Single nucleotide variant
(missense variant +1 more)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
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