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Items: 1 to 100 of 544

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+210 more
Copy number loss
See cases
GPathogenic
LOC121587566, LOC121587567
+218 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+196 more
Copy number loss
See cases
GPathogenic
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+160 more
Copy number loss
See cases
GPathogenic
LOC130059772, LOC130059773
+138 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+116 more
Deletion
KBG syndrome
GPathogenic
LOC130059760, LOC130059761
+129 more
Copy number loss
See cases
GPathogenic
CYBA
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(3 prime UTR variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+2 more
GBenign
CYBA, LOC130059739
+1 more
Duplication
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(V195M)
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
(E193K)
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
(D192Y)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(D192N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CYBA
(D192H)
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
(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
(P189L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYBA
(P189R)
Single nucleotide variant
(missense 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
+1 more
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
(V185I)
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
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(P183R)
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
(G181R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CYBA
(G182fs)
Duplication
(frameshift 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
(P180L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P180R)
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
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(G177A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYBA
Microsatellite
(inframe_insertion)
not specified
+2 more
GConflicting classifications of pathogenicity
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
GConflicting classifications of pathogenicity
CYBA
(A176V)
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
(A175V)
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
(V174A)
Inversion
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Indel
(inframe_indel)
not specified
GUncertain significance
CYBA
(V174A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CYBA
Single nucleotide variant
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
Single nucleotide variant
(synonymous variant)
Chronic granulomatous disease
GUncertain significance
CYBA
(A172G)
Single nucleotide variant
(missense variant)
Chronic granulomatous disease
GUncertain significance
CYBA
(E171*)
Single nucleotide variant
(nonsense)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(E169K)
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
(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
(R164H)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
+1 more
GUncertain significance
CYBA
(R164C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYBA
(P160fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(A163D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CYBA
(E162D)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P160fs)
Deletion
(frameshift variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CYBA
(E162fs)
Insertion
(frameshift 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
(synonymous variant)
not provided
+2 more
GBenign
CYBA
(P160L)
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
GUncertain significance
CYBA
(P160R)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P159L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P159S)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(R158W)
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
(P157fs)
Duplication
(frameshift 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
(synonymous variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GLikely benign
CYBA
(P156fs)
Deletion
(frameshift variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
CYBA
(P156L)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GUncertain significance
CYBA
(P156Q)
Single nucleotide variant
(missense variant)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
GPathogenic
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