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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH2
Single nucleotide variant
(intron variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
GUncertain significance
CDH2
(F804L +1 more)
Single nucleotide variant
(missense variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+2 more
GUncertain significance
CDH2
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia, familial, 14
+1 more
GPathogenic/Likely pathogenic
CDH2
(P572R +1 more)
Single nucleotide variant
(missense variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
GUncertain significance
CDH2
(V162D +1 more)
Single nucleotide variant
(missense variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
GPathogenic
CDH2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CDH2
(L825fs +1 more)
Duplication
(frameshift variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+3 more
GPathogenic/Likely pathogenic
CDH2
(L824fs +1 more)
Deletion
(frameshift variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+3 more
GPathogenic/Likely pathogenic
CDH2
(D566Y +1 more)
Single nucleotide variant
(missense variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+2 more
GPathogenic
CDH2
(D566N +1 more)
Single nucleotide variant
(missense variant)
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
+3 more
GPathogenic/Likely pathogenic
CDH2
(Y645C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CDH2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
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