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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
JUP
(P736L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
JUP
(I687V)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
JUP
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
JUP
(V666M)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
JUP
(N638H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
(R637H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+3 more
GConflicting classifications of pathogenicity
JUP
(R602C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GUncertain significance
JUP
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
JUP
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
JUP
(R582W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JUP
(R577L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JUP
(R577C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
JUP
(R540H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
JUP
(Q536E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+2 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+5 more
GLikely benign
JUP
(G503S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+4 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
JUP
(V456I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+3 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+2 more
GLikely benign
JUP
(I442F)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
JUP
(A411V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
JUP
(V407I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+3 more
GUncertain significance
JUP
(S391N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
JUP
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
JUP
Deletion
(intron variant)
Naxos disease
+3 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
(K345N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GLikely benign
JUP
(Q317H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
JUP
(Q317L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+4 more
GBenign/Likely benign
JUP
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
JUP
(S302N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JUP
(G298S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
(A296S)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+6 more
GBenign/Likely benign
JUP
(N281S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JUP
(L270Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
JUP
(A246D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JUP
Duplication
(intron variant)
Naxos disease
+3 more
GBenign/Likely benign
JUP
Single nucleotide variant
(intron variant)
Naxos disease
+5 more
GBenign/Likely benign
JUP
Single nucleotide variant
(intron variant)
Naxos disease
+2 more
GLikely benign
JUP
(I228V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
JUP
(I208M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GUncertain significance
JUP
(R203C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
(M193T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
JUP
(V190M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
JUP
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
JUP
(A187V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
JUP
(S182L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
JUP
(R176Q)
Single nucleotide variant
(missense variant)
Naxos disease
+6 more
GBenign
JUP
(S170L)
Single nucleotide variant
(missense variant)
JUP-related disorder
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+3 more
GConflicting classifications of pathogenicity
JUP
(V159L)
Single nucleotide variant
(missense variant)
Naxos disease
+4 more
GConflicting classifications of pathogenicity
JUP
Deletion
(intron variant)
Naxos disease
+2 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GBenign/Likely benign
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
JUP
(E138K)
Single nucleotide variant
(missense variant)
Naxos disease
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GBenign/Likely benign
JUP
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+4 more
GConflicting classifications of pathogenicity
JUP
(E96K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
JUP
(M89T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
JUP
(A80T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JUP
Single nucleotide variant
(intron variant)
Naxos disease
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
JUP
(V34M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
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