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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2
(Q584K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
JPH2
(Q564*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
JPH2
(R522W)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GUncertain significance
JPH2
(G514S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
GUncertain significance
JPH2
(P497S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JPH2
(Q428*)
Single nucleotide variant
(nonsense)
Cardiomyopathy, dilated, 2E
+3 more
GUncertain significance
JPH2
(N409K)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
JPH2
(S241R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
JPH2
(L204R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
JPH2
(A189T)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
JPH2
(G187S)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
JPH2
(A181fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
JPH2
(S168R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
JPH2
(T161K)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
JPH2
(R138S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JPH2
(G3E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
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