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Items: 1 to 100 of 873

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+249 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+194 more
Copy number loss
See cases
GPathogenic
CACNA2D1, CACNA2D1-AS1
+79 more
Deletion
Seizure
+1 more
GLikely pathogenic
CACNA2D1, CACNA2D1-AS1
+25 more
Deletion
Schizophrenia
GLikely pathogenic
CACNA2D1, CACNA2D1-AS1
+25 more
Deletion
Seizure
+1 more
GLikely pathogenic
CACNA2D1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
CACNA2D1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(stop lost)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
(R1089L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(R1089H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(R1089C +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GLikely benign
CACNA2D1
(T1087I +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(G1097D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(G1085S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
(W1081L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(L1079V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
(I1073T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(Y1083S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(Y1083H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(W1070R +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
CACNA2D1
(V1074G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
(C1059* +1 more)
Microsatellite
(nonsense)
Brugada syndrome
GUncertain significance
CACNA2D1
(T1057S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(Y1056F +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Microsatellite
(splice acceptor variant)
not provided
GLikely benign
CACNA2D1
Duplication
(intron variant)
Brugada syndrome
GBenign
CACNA2D1
Duplication
(intron variant)
not provided
+1 more
GBenign
CACNA2D1
Deletion
(intron variant)
Brugada syndrome
GBenign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Microsatellite
(intron variant)
Brugada syndrome
+1 more
GLikely benign
CACNA2D1
Deletion
(intron variant)
Brugada syndrome
GBenign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Deletion
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
not provided
GBenign
CACNA2D1
Duplication
(inframe_insertion +1 more)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
(N1051S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 110
GUncertain significance
CACNA2D1
(D1045A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
CACNA2D1
(P1044S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(P1044A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA2D1
(R1053Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
CACNA2D1
(Q1037E +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CACNA2D1
Deletion
(intron variant)
Brugada syndrome
+1 more
GUncertain significance
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Duplication
(intron variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(A1022V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(I1020M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(I1032T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
(R1029Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
CACNA2D1
(C1014Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CACNA2D1
(T1011fs +1 more)
Deletion
(frameshift variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(V1018I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
(N1010D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
(L996I +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(K995Q +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
CACNA2D1
(I1002N +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(I1002V +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
not provided
GBenign
CACNA2D1
Single nucleotide variant
(intron variant)
not provided
GBenign
CACNA2D1
Microsatellite
(intron variant)
not provided
GBenign
CACNA2D1
Microsatellite
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
(L982I +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CACNA2D1
(G980A +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(S975G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(D986N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CACNA2D1
(N973I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
CACNA2D1
(D972Y +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(D972N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
(T964N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA2D1
(S961G +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
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