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Items: 1 to 100 of 626

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932075, LOC129932076
+560 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
ANGPTL1, APOBEC4
+455 more
Copy number loss
See cases
GPathogenic
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
NCF2
Microsatellite
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Duplication
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Duplication
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Single nucleotide variant
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Single nucleotide variant
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Insertion
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Single nucleotide variant
(3 prime UTR variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GBenign
NCF2
Duplication
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Deletion
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Duplication
(3 prime UTR variant)
not provided
GLikely benign
NCF2
Microsatellite
(3 prime UTR variant)
Chronic granulomatous disease
GUncertain significance
NCF2
Single nucleotide variant
(3 prime UTR variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(3 prime UTR variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(stop lost)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(V445L +3 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(R443fs +2 more)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(R442Q +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(R442W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NCF2
(L438V +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(D473E +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(D518H +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(T517I +3 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(T471A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NCF2
(A470V +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(A470T +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(C433R +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(K508fs +2 more)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(K508N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NCF2
(K508R +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(P426R +3 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(I505T +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(V422A +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(G465R +3 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(K500E +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(C499fs +2 more)
Duplication
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(E451K +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(E415Q +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(splice acceptor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Duplication
(splice acceptor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Duplication
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NCF2
Single nucleotide variant
(intron variant)
not provided
GBenign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(S407P +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
+1 more
GUncertain significance
NCF2
(L406S +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(D437N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCF2
(G436R +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(G436R +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(E399fs +2 more)
Deletion
(frameshift variant)
Chronic granulomatous disease
GLikely pathogenic
NCF2
(Q434H +3 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(L395P +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(P473S +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(V462G +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(G378R +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(Q374R +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(P454S +2 more)
Single nucleotide variant
(missense variant)
NCF2-related disorder
+3 more
GBenign/Likely benign
NCF2
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
(N367D +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
NCF2
(A447V +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(D446Y +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Deletion
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GPathogenic
NCF2
(E441K +2 more)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
(K395T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GConflicting classifications of pathogenicity
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
not provided
GBenign
NCF2
Single nucleotide variant
(intron variant)
not provided
GBenign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
NCF2
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GLikely benign
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