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Links from MedGen

Items: 1 to 100 of 463

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(S26L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(E195*)
Single nucleotide variant
(nonsense +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(P220T)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(R187S)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(T212P +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(H223Y)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(E130A +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
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
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(R168T)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(H162Y)
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(E195K)
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(M1I)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GPathogenic
SCN1B
(C201Y)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(P188L)
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
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(S264T)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(A176V +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(C237F)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(L47P +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(S246P)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(E23G +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(A185P)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(K37Q +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(W140R +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
(G150D)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
(Y32fs)
Insertion
(frameshift variant +1 more)
Brugada syndrome 5
GPathogenic
SCN1B
Duplication
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
(P220S)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(L174F +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(R187G)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(Q190K)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Duplication
(intron variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(E195fs)
Duplication
(frameshift variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(I144V +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(F36fs +1 more)
Deletion
(frameshift variant)
Brugada syndrome 5
GPathogenic
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(C21fs)
Duplication
(frameshift variant +1 more)
Brugada syndrome 5
GPathogenic
SCN1B
(G2V)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(S211Y)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Deletion
(intron variant)
Brugada syndrome 5
GBenign
SCN1B
(L235Q)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(N75S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(R27fs +1 more)
Duplication
(frameshift variant)
Brugada syndrome 5
GPathogenic
SCN1B
(V24E)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(G117S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(E66G +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(W59S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(G19R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Brugada syndrome 5
+1 more
GUncertain significance
SCN1B
(A164D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN1B
(Y40C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN1B
(C178fs +1 more)
Duplication
(frameshift variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN1B
(F158S)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(H223N)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(A182V)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(G97S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+1 more
GUncertain significance
SCN1B
(N110S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(Q190K)
Indel
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(C243Y)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(E15K +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(T177I)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(5 prime UTR variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(intron variant)
Brugada syndrome 5
GLikely benign
SCN1B
Single nucleotide variant
(splice acceptor variant)
Brugada syndrome 5
GLikely pathogenic
SCN1B
(S62T +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
(Q172R)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(G153fs)
Deletion
(frameshift variant +1 more)
Brugada syndrome 5
GUncertain significance
SCN1B
(R27L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
SCN1B
(D50E +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 5
GLikely benign
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