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Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(A440T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GConflicting classifications of pathogenicity
RYR2
(G797R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RYR2
(R1807Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(T78M)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
TMEM43
(H215P)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
GPD1L
(I124V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+13 more
GBenign/Likely benign
SCN5A
(R1644H +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GPathogenic
SCN5A
(F1616del +5 more)
Microsatellite
(inframe_deletion)
Cardiac arrhythmia
+11 more
GPathogenic/Likely pathogenic
SCN5A
(D1422N +2 more)
Single nucleotide variant
(missense variant +1 more)
Sick sinus syndrome
+7 more
GUncertain significance
SCN5A
(Q692K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+11 more
GConflicting classifications of pathogenicity
SCN5A
(R533H)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+18 more
GConflicting classifications of pathogenicity
SCN5A
(V411M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
MYL3
(A57D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ANK2
(V115I +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(T139S +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(R1582W +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia, ankyrin-B-related
+4 more
GBenign/Likely benign
ANK2, LOC126807136
(A1837T +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia, ankyrin-B-related
+4 more
GConflicting classifications of pathogenicity
ANK2, LOC126807136
(S1870L +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
+2 more
GUncertain significance
ANK2, LOC126807136
(R2069H +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
ANK2
(R2154H +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
ANK2
(S2195N +4 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
ANK2, LOC126807137
(R2416Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+4 more
GUncertain significance
ANK2, LOC126807137
(R2466H +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia, ankyrin-B-related
+4 more
GLikely benign
ANK2, LOC126807137
(H2486Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
LOC126807137, ANK2
(S2526L +4 more)
Single nucleotide variant
(intron variant +1 more)
Long QT syndrome
+2 more
GUncertain significance
ANK2
(R3058H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ANK2
(I3285L +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
ANK2
(E1476K +43 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia, ankyrin-B-related
+3 more
GConflicting classifications of pathogenicity
ANK2
(H1533Q +43 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
ANK2
(T1626N +43 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ANK2
(G1777R +51 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+3 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+10 more
GConflicting classifications of pathogenicity
DSP
(R1267*)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
DSP
(S1462I)
Indel
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
DSP
(I2619V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
DSP
(R2639Q +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
CACNA2D1
(R556G +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(D356V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(V367M)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GLikely benign
AKAP9
(A1194T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(R1609Q)
Indel
(missense variant)
Ventricular fibrillation
+3 more
GConflicting classifications of pathogenicity
AKAP9
(V1790G)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
AKAP9
(E2438D +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
AKAP9
(T2782I +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9
(I2886V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AKAP9
(R3038C +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
AKAP9
(S3114fs +2 more)
Duplication
(frameshift variant)
Long QT syndrome
GUncertain significance
AKAP9
(S3341L +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(R3388T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(S3793C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(S3833* +2 more)
Single nucleotide variant
(nonsense)
Long QT syndrome
GUncertain significance
KCNH2
(L1045F +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNH2
(A573V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNH2
(R572W +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
GConflicting classifications of pathogenicity
KCNH2
(R784W +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNH2
(D434Y +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GPathogenic/Likely pathogenic
KCNH2
(A406S +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNH2
(R404* +4 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
+4 more
GPathogenic
KCNH2
(H399R +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
(V290I +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
KCNH2
(V285A +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+1 more
GLikely pathogenic
KCNH2
(Y276C +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GPathogenic/Likely pathogenic
KCNH2
(A614V +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GPathogenic
KCNH2
(G261S +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GPathogenic
KCNH2
(G244S +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+6 more
GPathogenic/Likely pathogenic
KCNH2
(L212S +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic
KCNH2
(P111L +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
KCNH2
(R356H +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
KCNH2
(R328C +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNH2
(G306R +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely pathogenic
KCNH2
(R252Q +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+1 more
GUncertain significance
KCNH2
(E229* +3 more)
Single nucleotide variant
(nonsense)
Long QT syndrome
+2 more
GPathogenic
KCNH2
(R176W +3 more)
Single nucleotide variant
(missense variant)
See cases
+6 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(intron variant)
Short QT syndrome type 1
+3 more
GLikely benign
KCNH2
(T152fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CACNB2
Duplication
(splice donor variant)
Brugada syndrome 4
+4 more
GConflicting classifications of pathogenicity
NEBL
(Y89*)
Single nucleotide variant
(nonsense +1 more)
Long QT syndrome
+6 more
GConflicting classifications of pathogenicity
CTNNA3
(R126H +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 13
GUncertain significance
CTNNA3
(D12V +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
VCL
(V189M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1W
+2 more
GUncertain significance
ILK, TAF10
(R149Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
MYBPC3
(R1271*)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction 10
+7 more
GPathogenic/Likely pathogenic
MYBPC3
(S13R)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(G329S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GUncertain significance
CACNA1C
(G402S)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+2 more
GPathogenic
CACNA1C
(E850del +1 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(P857L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GConflicting classifications of pathogenicity
CACNA1C
(R860P +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A1717G +10 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1815T +10 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(T1845M +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C, CACNA1C-AS1
(R1867W +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1973Q +13 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MYH6
(A1298V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
MYH6
(T864M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
MYH6
(V350I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+3 more
GUncertain significance
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