NM_001792.5(CDH2):c.702+1G>APathogenic
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|not provided
β
β
ββ2025
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)Pathogenic
CDH2-related disorder|Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|not provided|Syndromic neurodevelopmental disorder
β
β
ββ2025β Residue 676
NM_001792.5(CDH2):c.1344+1G>APathogenic
Arrhythmogenic right ventricular dysplasia, familial, 14|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
β
β
ββ2022
NM_001792.5(CDH2):c.1879G>C (p.Asp627His)Likely pathogenic
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
β
βββ2026β Residue 627
NM_001792.5(CDH2):c.172+2T>CLikely pathogenic
not provided
β
βββ2025
NM_001792.5(CDH2):c.1839C>G (p.Cys613Trp)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|not provided
β
βββ2024β Residue 613
NM_001792.5(CDH2):c.1522G>A (p.Glu508Lys)Pathogenic
not provided
β
βββ2024β Residue 508
NM_001792.5(CDH2):c.1344+1G>CPathogenic
not provided
β
βββ2024
NM_001792.5(CDH2):c.345G>A (p.Trp115Ter)Likely pathogenic
not provided
β
βββ2024β Residue 115
NM_001792.5(CDH2):c.1805C>G (p.Ala602Gly)Likely pathogenic
Auditory neuropathy
β
βββ2023β Residue 602
NM_001792.5(CDH2):c.1321G>T (p.Asp441Tyr)Likely pathogenic
not provided
β
βββ2023β Residue 441
NM_001792.5(CDH2):c.448C>T (p.His150Tyr)Likely pathogenic
Attention deficit-hyperactivity disorder 8|not provided
β
βββ2023β Residue 150
NM_001792.5(CDH2):c.1159-1G>APathogenic
Arrhythmogenic right ventricular dysplasia, familial, 14
β
βββ2023
NM_001792.5(CDH2):c.1344+5G>ALikely pathogenic
not provided
β
βββ2022
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn)Likely pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Syndromic neurodevelopmental disorder|Corpus callosum, agenesis of
β
βββ2020β Residue 353
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)Likely pathogenic
Cerebral arteriovenous malformation
β
βββ2018β Residue 692
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|Syndromic neurodevelopmental disorder
ββββ2020β Residue 597
NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
ββββ2020β Residue 597
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|Syndromic neurodevelopmental disorder
ββββ2020β Residue 855
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|Syndromic neurodevelopmental disorder
ββββ2020β Residue 856