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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
(R702H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
JUP
(M697L)
Single nucleotide variant
(missense variant)
Naxos disease
+4 more
GBenign
JUP
(V648I)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
JUP
(I621T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
JUP
(I442F)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
JUP
(S391N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
JUP
(A314G)
Single nucleotide variant
(missense variant)
Naxos disease
+3 more
GUncertain significance
JUP
(N309S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
JUP
(T249M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
JUP
(R176W)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
JUP
(R142H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GBenign/Likely benign
JUP
(E118K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
JUP
(N112S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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