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Links from MedGen

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
SCN4B
(P106R +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(T102N)
Single nucleotide variant
(intron variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(T54P)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(E87Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(S116fs +2 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
LOC130006838, SCN4B
Single nucleotide variant
(5 prime UTR variant +2 more)
Long QT syndrome 10
GLikely benign
SCN4B
(S218A +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(R61Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Deletion
Long QT syndrome 10
GUncertain significance
SCN4B
(N45H)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(E81L)
Indel
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(K88N)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
GLikely benign
LOC126861356, SCN4B
(R100S)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
LOC126861356, SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
LOC126861356, SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GLikely benign
SCN4B
(N103fs +2 more)
Microsatellite
(frameshift variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC126861356, SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
LOC126861356, SCN4B
(T126M +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Cardiovascular phenotype
+1 more
GLikely benign
LOC126861356, SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
SCN4B
(R67Q)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
+1 more
GUncertain significance
SCN4B
(V35A)
Single nucleotide variant
(5 prime UTR variant +3 more)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN4B
(G80V +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
+1 more
GUncertain significance
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
+1 more
GLikely benign
SCN4B
(V60M +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
+1 more
GUncertain significance
SCN4B
(V35I +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
+1 more
GConflicting classifications of pathogenicity
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
GLikely benign
LOC130006838, SCN4B
Single nucleotide variant
(5 prime UTR variant +2 more)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
+1 more
GLikely benign
SCN4B
Microsatellite
(intron variant)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
LOC126861356, SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
GLikely benign
SCN4B
(A110T +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(S57R)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(E87K)
Single nucleotide variant
(5 prime UTR variant +3 more)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN4B
(V35M)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
SCN4B
(I78S)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
SCN4B
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC126861356, SCN4B
(P91H)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(E157Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
LOC126861356, SCN4B
(I116fs +1 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SCN4B
(T101M +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
+1 more
GUncertain significance
LOC126861356, SCN4B
(I116T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN4B
(G107C +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
+2 more
GUncertain significance
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LOC130006838, SCN4B
Single nucleotide variant
(5 prime UTR variant +2 more)
Long QT syndrome 10
GLikely benign
LOC126861356, SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant +3 more)
Long QT syndrome 10
GLikely benign
SCN4B
(F66L)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(R67L)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(S89C)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC130006838, SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(E66G +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(D25H +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(K96E)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(D125N +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(R100P)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Microsatellite
(inframe_deletion +1 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(D120G +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(S34P)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
+2 more
GLikely benign
SCN4B
Indel
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(A38T)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(L8P +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
LOC130006838, SCN4B
Single nucleotide variant
(5 prime UTR variant +2 more)
Long QT syndrome 10
+1 more
GConflicting classifications of pathogenicity
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 10
+1 more
GLikely benign
SCN4B
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
SCN4B
(G80S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
LOC126861356, SCN4B
Single nucleotide variant
(intron variant)
Long QT syndrome 10
GLikely benign
SCN4B
Single nucleotide variant
(splice donor variant)
Long QT syndrome 10
GUncertain significance
SCN4B
(W14G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SLC37A4, TMEM25
+36 more
Deletion
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(R100H)
Single nucleotide variant
(5 prime UTR variant +3 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(R100C)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
SCN4B
(I174V +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN4B
(S205P +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(I190L +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 10
GUncertain significance
LOC126861356, SCN4B
(T126A +1 more)
Single nucleotide variant
(intron variant +1 more)
Long QT syndrome 10
GUncertain significance
SCN4B
(T39A)
Single nucleotide variant
(5 prime UTR variant +3 more)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC126861356, SCN4B
Single nucleotide variant
(intron variant)
not specified
+2 more
GUncertain significance
SCN4B
Single nucleotide variant
(synonymous variant)
Long QT syndrome 10
+1 more
GLikely benign
SCN4B
(R195W +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
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