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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(V17774fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GPathogenic
TTN
(S4168* +4 more)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
GPathogenic
TTN, TTN-AS1
(G15405fs +5 more)
Deletion
(non-coding transcript variant +1 more)
Primary dilated cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(Y14109* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
TTN, TTN-AS1
(G18768* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
TNNT2
Indel
Hypertrophic cardiomyopathy
GUncertain significance
RBM20
(G965R)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
VCL
(N654T)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
MYH7
(H666R)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
LAMP2
(Y223*)
Duplication
(nonsense)
Isolated Noncompaction of the Ventricular Myocardium
GPathogenic
LDB3
(P404A +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+1 more
GUncertain significance
PRDM16
(M788L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
TTN
(R12240* +5 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
RBM20
(E918del)
Microsatellite
(inframe_deletion)
Dilated cardiomyopathy 1DD
+3 more
GUncertain significance
RBM20
(R726*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
PRKAG2
(A561P +4 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
LMNA
(S295L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
DSP
(N115S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
DSP, DSP-AS1
(G46D)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+10 more
GConflicting classifications of pathogenicity
MYBPC3
Deletion
Hypertrophic cardiomyopathy
+4 more
GPathogenic/Likely pathogenic
NEXN
(R392* +1 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LDB3
(R31W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
LDB3
(R218H +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
JUP
(T19I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+5 more
GConflicting classifications of pathogenicity
PRDM16
(P291L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
MYBPC3
(E258K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
MYBPC3
Single nucleotide variant
(splice donor variant)
Primary familial hypertrophic cardiomyopathy
+9 more
GPathogenic
MYBPC3
(W792fs)
Duplication
Cardiovascular phenotype
+6 more
GPathogenic
MYBPC3
(D610N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYPN
(Y20C)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ABCC9
(T1547I)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
LMNA
(R527P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GPathogenic
MYH7
(R453C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
TMEM43
(S358L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
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