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 152

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067034, LOC130067035
+535 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
LOC130066994, LOC130066995
+287 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
AIFM3, ARVCF
+378 more
Copy number loss
See cases
GPathogenic
AIFM3, CCDC116
+123 more
Copy number gain
See cases
GPathogenic
AIFM3, CCDC116
+101 more
Copy number gain
See cases
GUncertain significance
AIFM3, CCDC116
+101 more
Copy number gain
See cases
GPathogenic
AIFM3, BCR
+265 more
Copy number loss
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
CCDC116, FAM230B
+94 more
Copy number gain
See cases
GUncertain significance
CCDC116, FAM230B
+102 more
Copy number loss
See cases
GPathogenic
CCDC116, FAM230B
+102 more
Copy number gain
See cases
GUncertain significance
CCDC116, FAM230B
+99 more
Copy number loss
See cases
GPathogenic
CCDC116, FAM230B
+99 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+229 more
Copy number gain
See cases
GUncertain significance
BCR, CCDC116
+177 more
Copy number gain
See cases
GPathogenic
BCR, CCDC116
+180 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
CCDC116, HIC2
+90 more
Copy number loss
See cases
GPathogenic
CCDC116, GGTLC2
+94 more
Copy number loss
See cases
GPathogenic
CCDC116, IGL
+89 more
Copy number loss
See cases
GPathogenic
CCDC116, IGL
+89 more
Copy number gain
See cases
GPathogenic
CCDC116, IGL
+92 more
Copy number loss
See cases
GPathogenic
LOC129929044, LOC129929045
+176 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
BCR, CCDC116
+179 more
Copy number loss
See cases
GPathogenic
BCR, CCDC116
+179 more
Copy number gain
See cases
GPathogenic
CCDC116, IGL
+89 more
Copy number loss
See cases
GPathogenic/Likely pathogenic
BCR, C22orf15
+222 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+227 more
Copy number loss
See cases
GPathogenic
CCDC116, GGTLC2
+86 more
Copy number gain
See cases
GPathogenic
CCDC116, LOC110121474
+29 more
Copy number gain
See cases
GUncertain significance
CCDC116, IGL
+80 more
Copy number loss
See cases
GPathogenic
CCDC116, GGTLC2
+84 more
Copy number gain
See cases
GPathogenic
BCR, CCDC116
+168 more
Copy number loss
See cases
GPathogenic
CCDC116, IGL
+83 more
Copy number loss
See cases
GPathogenic
LOC132090639, MAPK1
+6 more
Copy number gain
See cases
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MAPK1
(A352S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(F329L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(P323H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MAPK1
(P323R)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(E322Q)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+6 more
GPathogenic
MAPK1
(E322K)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+3 more
GLikely pathogenic
OLikely oncogenic
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAPK1
(S320I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
MAPK1-related disorder
GLikely benign
MAPK1
(P319L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(D318G)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(D318N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
Single nucleotide variant
(synonymous variant)
MAPK1-related disorder
GLikely benign
MAPK1
(Y316H)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GLikely pathogenic
MAPK1
(E305G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
(I255V)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GLikely pathogenic
MAPK1
Single nucleotide variant
(intron variant)
MAPK1-related disorder
GUncertain significance
MAPK1
(I227V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK1
Single nucleotide variant
(intron variant)
MAPK1-related disorder
GLikely benign
MAPK1
(D175E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(A174V)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
Single nucleotide variant
(intron variant)
MAPK1-related disorder
GLikely benign
MAPK1
(K164Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
(R135T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MAPK1
(H120N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAPK1
(I103V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(T94A)
Single nucleotide variant
(missense variant)
MAPK1-related disorder
GLikely benign
MAPK1
(E81K)
Single nucleotide variant
(missense variant)
MAPK1-related disorder
GLikely pathogenic
MAPK1
(H80Y)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(I74N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(A52D)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GUncertain significance
MAPK1
Microsatellite
(intron variant)
MAPK1-related disorder
GLikely benign
MAPK1
(A35T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(N27D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
Microsatellite
(inframe_indel +2 more)
MAPK1-related disorder
+1 more
GUncertain significance
MAPK1
Microsatellite
(inframe_insertion +1 more)
not provided
GBenign
MAPK1
(A7del)
Microsatellite
(inframe_indel +2 more)
MAPK1-related disorder
GBenign
BCR, C22orf15
+43 more
Copy number gain
not provided
GUncertain significance
IGLC1, IGLL1
+23 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+19 more
Copy number loss
not provided
GPathogenic
MAPK1, PPIL2
+5 more
Copy number gain
not provided
GUncertain significance
BCR, CCDC116
+23 more
Copy number gain
not provided
GPathogenic
BCR, CCDC116
+23 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
CCDC116, HIC2
+16 more
Copy number gain
not provided
GPathogenic
AIFM3, CCDC116
+23 more
Copy number gain
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
See cases
GPathogenic
ADORA2A, BCR
+50 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GPathogenic
BCR, C22orf15
+45 more
Copy number gain
not provided
GPathogenic
CCDC116, MAPK1
+9 more
Copy number gain
not provided
GUncertain significance
MIR130B, CCDC116
+15 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
RTN4R, SCARF2
+124 more
Copy number gain
Cat eye syndrome
+1 more
GPathogenic
BCR, CCDC116
+23 more
Copy number loss
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination