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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA2D1
(D550Y +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+6 more
GConflicting classifications of pathogenicity
VCL
(R520Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TRPM4
(R357W +2 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+2 more
GUncertain significance
SLMAP
Single nucleotide variant
(splice donor variant)
Cardiac arrest
GUncertain significance
SCN5A
(F1691S +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
SCN5A
(T187A)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GConflicting classifications of pathogenicity
RYR2
(S126R)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
MYOM1
(S1236R +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
KCNJ8
(R28P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
HCN4
(V733I)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 18
+5 more
GUncertain significance
DSP
(D2417Y +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrest
+2 more
GConflicting classifications of pathogenicity
DSP
(E683K)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+4 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(T730A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
DPP6
(A283T +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrest
GUncertain significance
CACNB2
(S477A +9 more)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
ANK2, LOC126807137
(S2526L +4 more)
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
ANK2, LOC126807137
(H2486Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
ANK2, LOC126807136
(A1837T +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
AKAP9
(P3759L +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
AKAP9
(D356V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
DSG2
(A355T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RYR2
(I4587L)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
LOC126861896, MYH6
(K1571N)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+4 more
GUncertain significance
DSP
(R941*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
DSP
(E754K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
CACNB2
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CACNB2
(G494S +9 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 4
+2 more
GUncertain significance
CACNA2D1
(S755T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ANK2, LOC126807136
(R2069H +4 more)
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
AKAP9
(S3793C +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(V367M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
SCN5A
(A572D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+13 more
GBenign/Likely benign
TTN
(R9744C +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
DSC2
(T358I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
DSG2
(R146L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
RBM20
(D888N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
MYBPC3
(I1131T)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Intrinsic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
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