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Links from MedGen

Items: 1 to 100 of 3271

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110121269, SCN5A
(L985fs)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GLikely pathogenic
LOC110121269, SCN5A
(K991fs)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GLikely pathogenic
SCN5A
(W1744* +5 more)
Single nucleotide variant
(nonsense +1 more)
Brugada syndrome
GLikely pathogenic
LOC110121269, SCN5A
(E1072*)
Single nucleotide variant
(nonsense +1 more)
Brugada syndrome
GLikely pathogenic
SCN5A
(I1412fs +4 more)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GLikely pathogenic
LOC110121269, SCN5A
(E1070*)
Single nucleotide variant
(nonsense +1 more)
Brugada syndrome
GLikely pathogenic
SCN5A
(I723fs)
Duplication
(non-coding transcript variant +1 more)
Brugada syndrome
GPathogenic
SCN5A
(L567fs)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GPathogenic
SCN5A
(N1487fs +4 more)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GLikely pathogenic
SCN5A
(V1270G +2 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GLikely pathogenic
SCN5A
(V412fs)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GLikely pathogenic
LOC110121288, SCN10A
(C1038F +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
GPD1L
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SLMAP
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
KCNJ8
(M1fs)
Duplication
(frameshift variant +1 more)
Brugada syndrome
GUncertain significance
GPD1L
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
GPD1L
Deletion
(intron variant)
Brugada syndrome
GLikely benign
GPD1L
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
GPD1L
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
(F337I)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Deletion
(intron variant)
Brugada syndrome
GLikely benign
SLMAP
(A792T +8 more)
Single nucleotide variant
(missense variant +2 more)
Brugada syndrome
GUncertain significance
LOC110121288, SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SLMAP
(A310V)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GUncertain significance
CACNA2D1
(M279T)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1, CACNA2D1-AS1
Duplication
(splice donor variant)
Brugada syndrome
GUncertain significance
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SLMAP
(P362A +8 more)
Single nucleotide variant
(missense variant +2 more)
Brugada syndrome
GUncertain significance
SLMAP
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SLMAP
(P158L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GUncertain significance
GPD1L
(M142I)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(Y1056F +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
GPD1L
(I138M)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SLMAP
(K474Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GUncertain significance
GPD1L
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
LOC110121288, SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SLMAP
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
(P592S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(F113L)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCNJ8
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(intron variant +1 more)
Brugada syndrome
GLikely benign
SLMAP
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome
GLikely benign
CACNA2D1
(E567Q +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCNE5
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
SLMAP
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SCN10A
(E39D)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SLMAP
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome
GLikely benign
KCNE5
(V42M)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
(V289M)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
GPD1L, LOC129936414
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
KCNJ8
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
GPD1L
(R310L)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
CACNA2D1
(I1002V +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
SLMAP
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
(P1044S +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCNJ8
(P253T)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
GPD1L
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
(N374K)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
GPD1L
Duplication
(intron variant)
Brugada syndrome
GBenign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SCN10A
(V1426I +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SLMAP
Single nucleotide variant
(intron variant)
Brugada syndrome
GUncertain significance
KCNJ8
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SLMAP
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome
GLikely benign
KCNE5
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
GPD1L, LOC129936414
(N15S)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SLMAP
(M749I +15 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
CACNA2D1, CACNA2D1-AS1
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
GPD1L
(P128S)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SLMAP
(E225G +15 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GUncertain significance
CACNA2D1
(W1081L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SLMAP
(R138P)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
GUncertain significance
SLMAP
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
CACNA2D1
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
GPD1L
Single nucleotide variant
(intron variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SLMAP
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome
GLikely benign
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