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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
JUP
(M697L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
JUP
Single nucleotide variant
(intron variant)
Naxos disease
+2 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
JUP
Single nucleotide variant
(synonymous variant)
Naxos disease
+4 more
GLikely benign
JUP
(V648I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 12
+1 more
GBenign
JUP
(R637C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
JUP
(M556T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
JUP
Single nucleotide variant
(intron variant)
Naxos disease
+3 more
GBenign
JUP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
JUP-related disorder
+4 more
GBenign/Likely benign
JUP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GBenign
JUP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 12
+5 more
GConflicting classifications of pathogenicity
JUP
(L270R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
JUP
(N211K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JUP
(V159L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
JUP
(E154K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
JUP
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
JUP
(R142H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GBenign/Likely benign
JUP
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
JUP
(S125L)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(N112S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
JUP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
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