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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1B
(E162A +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SCN1B
(A154D +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+5 more
GUncertain significance
SCN1B
(Q217*)
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome 5
+2 more
GConflicting classifications of pathogenicity
SCN1B
Single nucleotide variant
(3 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
Single nucleotide variant
(3 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
(E84K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SCN1B
(S116L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
SCN1B
(T53N +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+3 more
GUncertain significance
SCN1B
(V139I +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+5 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
+4 more
GLikely benign
SCN1B
(R214W)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
SCN1B
(P184L)
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome 5
+4 more
GUncertain significance
SCN1B
(R45C +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
+5 more
GUncertain significance
SCN1B
(R191W)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+4 more
GUncertain significance
SCN1B
(R125C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Atrial fibrillation, familial, 13
+5 more
GBenign/Likely benign
SCN1B
(R125H +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+5 more
GUncertain significance
SCN1B
(T28A)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+5 more
GUncertain significance
SCN1B
(A197V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+6 more
GUncertain significance
SCN1B
(L13P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
SCN1B
(R89H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1B
(R45H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SCN1B
(G257R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
SCN1B
(R214Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
SCN1B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
SCN1B
(D153N +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
SCN1B
(R85H +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+6 more
GPathogenic/Likely pathogenic
SCN1B
(C121W +1 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 13
+7 more
GPathogenic/Likely pathogenic
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