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Items: 1 to 100 of 594

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ANKRD27, CD22
+193 more
Copy number loss
See cases
GPathogenic
SCN1B
Microsatellite
not provided
GBenign
LOC130064204, SCN1B
Microsatellite
not provided
GLikely benign
LOC130064204, SCN1B
Microsatellite
not provided
GLikely benign
LOC130064204, SCN1B
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130064204, SCN1B
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Brugada syndrome 5
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+2 more
GBenign/Likely benign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Brugada syndrome 5
+2 more
GBenign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SCN1B
Deletion
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Brugada syndrome 5
+3 more
GBenign/Likely benign
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN1B
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN1B
(M1T)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+1 more
GConflicting classifications of pathogenicity
SCN1B
(M1I)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GPathogenic
SCN1B
(M1I)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+1 more
GConflicting classifications of pathogenicity
SCN1B
(G2V)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(R3M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN1B
(L5M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN1B
(A6P)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(A6V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN1B
(L7I)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(L7*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SCN1B
(V8L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN1B
(V8A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(G10S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SCN1B
(G10D)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(A11T)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
Deletion
(splice donor variant)
Brugada syndrome 5
GLikely pathogenic
SCN1B
(L13P)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 13
+6 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(splice donor variant)
Generalized epilepsy with febrile seizures plus, type 1
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
not specified
GBenign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
not provided
GBenign
SCN1B
Single nucleotide variant
(intron variant)
not provided
GBenign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
SCN1B
Deletion
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Duplication
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SCN1B
(V14A)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+1 more
GUncertain significance
SCN1B
(A17G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
SCN1B
(A17V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN1B
(C21fs)
Duplication
(frameshift variant +1 more)
Brugada syndrome 5
GPathogenic
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
SCN1B
(G19R)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+1 more
GUncertain significance
SCN1B
(G20S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
SCN1B
(V22M)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(E23fs)
Deletion
(frameshift variant +1 more)
not specified
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(E23D)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN1B
(V24E)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(D25N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SCN1B
(S26L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(T28A)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
+1 more
GLikely benign
SCN1B
(E29K)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+2 more
GUncertain significance
SCN1B
(E29Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
SCN1B
(V31M)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+1 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
SCN1B
(Y32fs)
Insertion
(frameshift variant +1 more)
Brugada syndrome 5
GPathogenic
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
SCN1B
(G33R)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
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