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Items: 1 to 100 of 1695

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
DSC1, DSC2
+10 more
Copy number loss
See cases
GPathogenic
DSC1, DSC2
+9 more
Copy number gain
See cases
GUncertain significance
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
B4GALT6, DSC1
+32 more
Copy number gain
See cases
GUncertain significance
DSC2, DSC3
+2 more
Copy number gain
See cases
GUncertain significance
DSC1, DSC2
+2 more
Copy number loss
See cases
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GBenign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Duplication
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Deletion
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Microsatellite
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GBenign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 11
GBenign
DSC2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
DSC2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant)
Familial isolated arrhythmogenic right ventricular dysplasia
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
DSC2
Single nucleotide variant
(stop lost +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
(R758G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
GUncertain significance
DSC2
(M756L +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
DSC2
(C898*)
Single nucleotide variant
(nonsense +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(C755F +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(C898R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
+1 more
GLikely benign
DSC2
(A897fs)
Duplication
(3 prime UTR variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
+6 more
GBenign/Likely benign
DSC2
(E896fs)
Duplication
(3 prime UTR variant +1 more)
not provided
GBenign
DSC2
(E896fs)
Insertion
(3 prime UTR variant +1 more)
not provided
GBenign
DSC2
(A895G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSC2
(A895T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GUncertain significance
DSC2
(K890R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
DSC2
(P889H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(E888D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GUncertain significance
DSC2
(E888D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
+1 more
GUncertain significance
DSC2
(F883C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Left ventricular hypertrophy
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+1 more
GLikely benign
DSC2
(E882K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+2 more
GUncertain significance
DSC2
(L881H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
DSC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
GLikely benign
DSC2
(G737E +1 more)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+1 more
GUncertain significance
DSC2
(G880R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiomyopathy
+2 more
GUncertain significance
DSC2
Single nucleotide variant
(synonymous variant +1 more)
Familial isolated arrhythmogenic right ventricular dysplasia
GLikely benign
DSC2
(E878del)
Microsatellite
(3 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
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