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Items: 1 to 100 of 702

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
CCIN, SPATA31F1
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VCP
Duplication
(3 prime UTR variant)
Inclusion Body Myopathy, Dominant
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GBenign/Likely benign
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GBenign
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+2 more
GConflicting classifications of pathogenicity
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GBenign
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GBenign
VCP
Deletion
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
VCP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+2 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GBenign/Likely benign
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+1 more
GBenign/Likely benign
VCP
Single nucleotide variant
(3 prime UTR variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
+3 more
GConflicting classifications of pathogenicity
VCP
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
VCP
(D799E +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
(S749N +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
(S739R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VCP
(G737V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VCP
(G782A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
not specified
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(intron variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VCP
(E711K +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
(R708W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VCP
(I752V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VCP
(N705D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
(S748C +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
VCP
(R745H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
VCP
(R700C +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GBenign
VCP
(A698V +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GLikely benign
VCP
(R696H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
VCP
(R696C +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
(E693D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
(R687C +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GBenign
VCP
(E685D +1 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
VCP
(P682T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VCP
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GLikely benign
VCP
(D680N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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