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Items: 1 to 100 of 1187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
AARSD1, ACBD4
+633 more
Copy number gain
See cases
GPathogenic
JUP
Single nucleotide variant
not provided
GBenign
JUP
Single nucleotide variant
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(3 prime UTR variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
JUP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(3 prime UTR variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GUncertain significance
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
GLikely benign
JUP
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign
JUP
Single nucleotide variant
(3 prime UTR variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+2 more
GLikely benign
JUP
(M743V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JUP
(D741G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
JUP
(A740V)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(T739A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+1 more
GLikely benign
JUP
(P738S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+1 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+2 more
GLikely benign
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
JUP
(P736L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
(P735L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JUP
(P735R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
(P735S)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(L733F)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(G732S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GLikely benign
JUP
(D731N)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
JUP
(S730N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
JUP
(S730G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
JUP
(Y729N)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(D727N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
JUP-related disorder
+5 more
GConflicting classifications of pathogenicity
JUP
Deletion
(inframe_deletion)
Arrhythmogenic right ventricular dysplasia 12
+5 more
GConflicting classifications of pathogenicity
JUP
(D721G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GUncertain significance
JUP
(M720V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GUncertain significance
JUP
(D719G)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(M718I)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
JUP
(M718T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JUP
(M718V)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
JUP
(H717D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
JUP
(M716R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JUP
(M716V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+1 more
GLikely benign
JUP
(L714P)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
JUP
(P713L)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(P713T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
(L711P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+1 more
GLikely benign
JUP
(P710H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
(P710S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GUncertain significance
JUP
(V709M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JUP
(D708N)
Single nucleotide variant
(missense variant)
Naxos disease
+3 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+1 more
GLikely benign
JUP
(S707fs)
Duplication
(frameshift variant)
Naxos disease
+1 more
GUncertain significance
JUP
(Y705F)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(M704I)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(M704V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GUncertain significance
JUP
(P703R)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(R702H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
JUP
(R702C)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
JUP
(Y701C)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GLikely benign
JUP
(T700I)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
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