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Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3B
Single nucleotide variant
(intron variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
(N5D)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
(N39K)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(T58M)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(intron variant)
Brugada syndrome 7
GLikely benign
SCN3B
(K136R)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(splice acceptor variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(S47T)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
(I201V)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(L108F)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(Q82*)
Single nucleotide variant
(nonsense)
Brugada syndrome 7
GUncertain significance
SCN3B
(S31L)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
(Y17C)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(E32G)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(K206N)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(Y181N)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(A195V)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(T146A)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(Q101K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
(R91H)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN3B
(Q192E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
(Y179H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
(R124Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
(H81Y)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(intron variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(intron variant)
Brugada syndrome 7
GLikely benign
SCN3B
(S86fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
Single nucleotide variant
(splice donor variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Deletion
(inframe_deletion)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
Duplication
(splice donor variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(H131R)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(I16V)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(P87R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
(D99N)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(R78Q)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
(L13P)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Duplication
Brugada syndrome 7
GUncertain significance
SCN3B
(R78W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN3B
(A11T)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(V36M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
SCN3B
(G69S)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+2 more
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
SCN3B
Single nucleotide variant
(synonymous variant)
SCN3B-related condition
+2 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(intron variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+1 more
GLikely benign
SCN3B
(A149G)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(N5S)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
(V25L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN3B
(T138del)
Microsatellite
(inframe_deletion)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
(V54M)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(T137M)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(intron variant)
Brugada syndrome 7
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SCN3B
(R132W)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN3B
(R132Q)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
(A195T)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+3 more
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+2 more
GLikely benign
SCN3B
(T33M)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
(V211G)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
SCN3B
(R139W)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
+1 more
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
SCN3B
(E67K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN3B
(N205S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
SCN3B-related condition
+3 more
GLikely benign
SCN3B
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
SCN3B
Deletion
(5 prime UTR variant)
Brugada syndrome
+1 more
GUncertain significance
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 7
+3 more
GBenign/Likely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
SCN3B
(I141M)
Single nucleotide variant
(missense variant)
Brugada syndrome 7
GUncertain significance
SCN3B
(R139Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SCN3B
(V110I)
Single nucleotide variant
(missense variant)
SCN3B-related condition
+5 more
GConflicting classifications of pathogenicity
SCN3B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
SCN3B
(A210V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
SCN3B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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