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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM16
(P291L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
PRDM16
(M788L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
NEXN
(R392* +1 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
(S295L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
LMNA
(R527P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GPathogenic
TTN, TTN-AS1
(G18768* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
TTN, TTN-AS1
(V17774fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GPathogenic
TTN, TTN-AS1
(Y14109* +5 more)
Single nucleotide variant
(nonsense)
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
(R12240* +5 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN
(S4168* +4 more)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
GPathogenic
TMEM43
(S358L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
DSP, DSP-AS1
(G46D)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+10 more
GConflicting classifications of pathogenicity
DSP
(N115S)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+5 more
GConflicting classifications of pathogenicity
PRKAG2
(A561P +4 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
MYPN
(Y20C)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
VCL
(N654T)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
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
RBM20
(R726*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
RBM20
(G965R)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
MYBPC3
(D610N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYBPC3
Single nucleotide variant
(splice donor variant)
Primary familial hypertrophic cardiomyopathy
+9 more
GPathogenic
MYH7
(H666R)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
MYH7
(R453C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
JUP
(T19I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+5 more
GConflicting classifications of pathogenicity
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