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Items: 1 to 100 of 345

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
ADORA2A, ADORA2A-AS1
+798 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
BCR, C22orf15
+229 more
Copy number gain
See cases
GUncertain significance
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+222 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+227 more
Copy number loss
See cases
GPathogenic
DDTL, DERL3
+164 more
Duplication
Schizophrenia
GLikely pathogenic
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+163 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+160 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+160 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
DRICH1, FAM230I
+162 more
Copy number gain
See cases
GUncertain significance
IGLV3-22, IGLV3-25
+160 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+157 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+124 more
Copy number gain
See cases
GUncertain significance
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+84 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+81 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+81 more
Copy number gain
See cases
GLikely benign
ADORA2A, ADORA2A-AS1
+80 more
Copy number gain
See cases
GUncertain significance
LOC130067094, LOC130067095
+80 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+80 more
Copy number gain
See cases
GUncertain significance
DDT, C22orf15
+78 more
Duplication
Schizophrenia
GLikely pathogenic
LRRC75B, MIF
+78 more
Duplication
Schizophrenia
GLikely pathogenic
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+76 more
Copy number gain
See cases
GUncertain significance
LOC130067120, LOC130067121
+76 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+70 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+76 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
ADORA2A, ADORA2A-AS1
+74 more
Copy number gain
See cases
GUncertain significance
C22orf15, CHCHD10
(T156I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
C22orf15, CHCHD10
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
C22orf15, CHCHD10
Duplication
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHCHD10
Duplication
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(3 prime UTR variant +1 more)
CHCHD10-related disorder
GLikely benign
CHCHD10
(P142T +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
(G137V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Deletion
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+3 more
GBenign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Autosomal dominant mitochondrial myopathy with exercise intolerance
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(intron variant)
Autosomal dominant mitochondrial myopathy with exercise intolerance
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(splice donor variant)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(H143Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CHCHD10
(Y135H +1 more)
Single nucleotide variant
(missense variant +1 more)
CHCHD10-related disorder
+5 more
GLikely benign
CHCHD10
(Y134* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(C132fs +1 more)
Duplication
(frameshift variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(C139Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant mitochondrial myopathy with exercise intolerance
+2 more
GUncertain significance
CHCHD10
(K137R +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(L129P +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(A128S +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(E134K +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
CHCHD10
(S126N +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant mitochondrial myopathy with exercise intolerance
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GLikely benign
CHCHD10
(G124S +1 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
CHCHD10
(C129F +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(C129R +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
(S120F +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GLikely benign
CHCHD10
(D118E +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(S117N +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(S117C +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+2 more
GUncertain significance
CHCHD10
(C112fs +1 more)
Deletion
(frameshift variant +1 more)
not specified
GUncertain significance
CHCHD10
(C119R +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(D118G +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+3 more
GUncertain significance
CHCHD10
(D111N +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign/Likely benign
CHCHD10
(F109L +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(Q108P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant mitochondrial myopathy with exercise intolerance
+3 more
GUncertain significance
CHCHD10
(Q108K +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(Q115* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(E105K +1 more)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
CHCHD10
(Y104* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lower motor neuron syndrome with late-adult onset
+2 more
GUncertain significance
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