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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH2
Single nucleotide variant
(splice acceptor variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
GPathogenic
CDH2
(N347S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
(T535S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CDH2
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
+1 more
GPathogenic/Likely pathogenic
CDH2
(A5V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDH2
(T336M +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
+1 more
GUncertain significance
CDH2
(D405N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH2
(D407N +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CDH2
(Q229P +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
GPathogenic
CDH2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
+2 more
GBenign/Likely benign
CDH2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
+3 more
GBenign/Likely benign
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