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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
(P736L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
JUP
(N690S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
Naxos disease
+1 more
GLikely benign
JUP
(A628T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GConflicting classifications of pathogenicity
JUP
(V603L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
(P517L)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
JUP
(V456I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
JUP
(K345N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
(E301G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
JUP
(M193T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
JUP
(R191P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JUP
(A187V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
(R176W)
Single nucleotide variant
(missense variant)
Naxos disease
+5 more
GConflicting classifications of pathogenicity
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