U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 388

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
C1QTNF6, CACNG2
+93 more
Copy number loss
See cases
GPathogenic
NCF4, NCF4-AS1
Single nucleotide variant
not provided
GBenign
NCF4, NCF4-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4-AS1, NCF4
(R8W)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(R8Q)
Single nucleotide variant
(missense variant)
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-AS1, NCF4
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(E10K)
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, NCF4-AS1
Single nucleotide variant
(splice donor 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
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
(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
(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
GBenign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
NCF4, NCF4-AS1
Deletion
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
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(splice acceptor variant)
Chronic granulomatous disease
GLikely pathogenic
NCF4, NCF4-AS1
(E14G)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4-AS1, NCF4
(P17L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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)
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
(V20I)
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)
not provided
+1 more
GBenign
NCF4, NCF4-AS1
(S23L)
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, NCF4-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
NCF4, NCF4-AS1
(N25S)
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, NCF4-AS1
(I29L)
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, NCF4-AS1
Single nucleotide variant
(synonymous 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, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(K32E)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(G34A)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(G34V)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(T36P)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(T36I)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(S37R)
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, 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
(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
Deletion
(intron variant)
not provided
+1 more
GBenign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
NCF4, NCF4-AS1
Duplication
(intron variant)
not provided
GBenign
NCF4, NCF4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
NCF4-AS1, NCF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NCF4, NCF4-AS1
Deletion
(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
(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
Microsatellite
(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
(intron variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4-AS1, NCF4
Deletion
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely pathogenic
NCF4, NCF4-AS1
Single nucleotide variant
(splice acceptor variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
+1 more
GPathogenic/Likely pathogenic
NCF4, NCF4-AS1
(F41Y)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(V42L)
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, 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)
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, NCF4-AS1
(K52fs)
Duplication
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4, NCF4-AS1
(K48fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GPathogenic
NCF4-AS1, NCF4
(G49R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(I55T)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(R57H)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(R57L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4-AS1, NCF4
(R58C)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
+3 more
GConflicting classifications of pathogenicity
NCF4, NCF4-AS1
(R58H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCF4, NCF4-AS1
(R60C)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(R60H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NCF4, NCF4-AS1
Single nucleotide variant
(synonymous 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, NCF4-AS1
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GLikely benign
NCF4, NCF4-AS1
(R72H)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(F73V)
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, NCF4-AS1
(G74R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
+1 more
GUncertain significance
NCF4, NCF4-AS1
(G74R)
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, 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)
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
(S77G)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
GUncertain significance
NCF4, NCF4-AS1
(S80G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination