Full data view for gene CDH3

This database is one of the "Eye disease" gene variant databases. Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Information The variants shown are described using the NM_001793.4 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.? r.(?) p.(Tyr249*) Unknown ACMG pathogenic g.68713757C>A - NM_001317195.1:c.747C>A - CDH3_000024 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.(?) p.(Gly277Asp) Unknown ACMG likely pathogenic g.68713840G>A - NM_001317195.1:c.830G>A - CDH3_000024 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Met327Ilefs*23) Unknown ACMG pathogenic g.68714984del - NM_001317195.1:c.981del - CDH3_000024 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.(?) p.(Val734Met) Unknown ACMG likely pathogenic g.68729746G>A - NM_001317195.1:c.2200G>A - CDH3_000024 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.3G>A r.(?) p.(Met1?) Unknown ACMG likely pathogenic g.68679285G>A g.68645382G>A CDH3 c.3G>A, p.(Met1?) - CDH3_000056 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 372 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-/. - c.141C>G r.(?) p.(Pro47=) Unknown - benign g.68679634C>G g.68645731C>G CDH3(NM_001317195.1):c.141C>G (p.P47=) - CDH3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.160+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.68679654G>A g.68645751G>A c.160+1G>A - CDH3_000062 Homozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease IV:3 PubMed: Schauren 2020 Family #1 F - Brazil - - - - - 1 LOVD
+?/. - c.160+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.68679654G>A g.68645751G>A c.160+1G>A - CDH3_000062 Homozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease IV:4 PubMed: Schauren 2020 Family #1 M - Brazil - - - - - 1 LOVD
+?/. - c.160+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.68679654G>A g.68645751G>A c.160+1G>A - CDH3_000062 Homozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease IV:5 PubMed: Schauren 2020 Family #1 F - Brazil - - - - - 1 LOVD
+?/. - c.160+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.68679654G>A g.68645751G>A c.160+1G>A - CDH3_000062 Homozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease IV:6 PubMed: Schauren 2020 Family #1 M - Brazil - - - - - 1 LOVD
+?/. - c.160+1G>A r.spl p.(?) Maternal (confirmed) - likely pathogenic g.68679654G>A g.68645751G>A c.160+1G>A - CDH3_000062 Compound heterozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease III:1 PubMed: Schauren 2020 Family #2 F - Brazil - - - - - 1 LOVD
+?/. - c.160+1G>A r.spl p.(?) Maternal (confirmed) - likely pathogenic g.68679654G>A g.68645751G>A c.160+1G>A - CDH3_000062 Compound heterozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease III:2 PubMed: Schauren 2020 Family #2 F - Brazil - - - - - 1 LOVD
-?/. - c.214G>A r.(?) p.(Asp72Asn) Unknown - likely benign g.68710341G>A g.68676438G>A CDH3(NM_001317195.1):c.214G>A (p.D72N) - CDH3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226C>T r.(?) p.(Arg76Trp) Unknown - VUS g.68710353C>T - CDH3(NM_001317195.1):c.226C>T (p.R76W) - CDH3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307C>T r.(?) p.(Arg103*) Both (homozygous) - pathogenic (recessive) g.68712097C>T g.68678194C>T NM_001793.4:c.307C>T:(p.Arg103*) - CDH3_000049 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1777, 12DG2033 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+?/. - c.316_317del r.(?) p.(Lys106Glufs*12) Parent #1 - likely pathogenic g.68712106_68712107del g.68678203_68678204del CDH3, variant 1: c.316_317del/p.K106Efs*12, variant 2: c.1086G>A/p.W362* - CDH3_000067 different transcript described in the paper: NM_001317195.1(CDH3):c.316_317del, p.(Lys106Glufs*12), solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 785 PubMed: Weisschuh 2020 Filing key number: 305, Stargardt Disease, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.335C>T r.(?) p.(Ala112Val) Unknown - likely pathogenic g.68712125C>T g.68678222C>T - - CDH3_000055 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8326 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.335C>T r.(?) p.(Ala112Val) Unknown - likely pathogenic g.68712125C>T g.68678222C>T - - CDH3_000055 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8326 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
-?/. - c.345T>C r.(?) p.(Ser115=) Unknown - likely benign g.68712135T>C g.68678232T>C CDH3(NM_001793.5):c.345T>C (p.S115=) - CDH3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390+4C>G r.spl? p.? Unknown - likely benign g.68712184C>G g.68678281C>G CDH3(NM_001793.4):c.390+4C>G (p.?) - CDH3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.390+5G>A r.spl? p.? Unknown - VUS g.68712185G>A g.68678282G>A CDH3(NM_001317195.1):c.390+5G>A - CDH3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.410G>A r.(?) p.(Arg137Lys) Unknown - likely benign g.68712423G>A g.68678520G>A CDH3(NM_001793.5):c.410G>A (p.R137K) - CDH3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444G>A r.(?) p.(Pro148=) Unknown - benign g.68712457G>A g.68678554G>A CDH3(NM_001793.6):c.444G>A (p.P148=) - CDH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462T>G r.(?) p.(Pro154=) Unknown - likely benign g.68712475T>G - CDH3(NM_001317195.1):c.462T>G (p.P154=) - CDH3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505_507del r.(?) p.(Leu169del) Unknown - VUS g.68712518_68712520del - CDH3(NM_001793.6):c.505_507del (p.(Leu169del)) - CDH3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507G>A r.(?) p.(Leu169=) Unknown - likely benign g.68712520G>A - CDH3(NM_001317195.1):c.507G>A (p.L169=) - CDH3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.613G>A r.(?) p.(Val205Met) Maternal (confirmed) - likely pathogenic (recessive) g.68712731G>A g.68678828G>A - - CDH3_000045 - PubMed: Blanco-Kelly 2017 - - Germline - - - - - DNA MLPA, SEQ - MLPA for ABCA4 ? patient PubMed: Blanco-Kelly 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - 1 Johan den Dunnen
-?/. - c.805A>C r.(?) p.(Met269Leu) Unknown - likely benign g.68713815A>C g.68679912A>C CDH3(NM_001317195.1):c.805A>C (p.M269L, p.(Met269Leu)), CDH3(NM_001317196.2):c.640A>C (p.M214L) - CDH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805A>C r.(?) p.(Met269Leu) Unknown - likely benign g.68713815A>C g.68679912A>C CDH3(NM_001317195.1):c.805A>C (p.M269L, p.(Met269Leu)), CDH3(NM_001317196.2):c.640A>C (p.M214L) - CDH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805A>C r.(?) p.(Met269Leu) Unknown - likely benign g.68713815A>C g.68679912A>C CDH3(NM_001317195.1):c.805A>C (p.M269L, p.(Met269Leu)), CDH3(NM_001317196.2):c.640A>C (p.M214L) - CDH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829del r.(?) p.(Gly277Alafs*20) Both (homozygous) - pathogenic (recessive) g.68713839del - 16:68713838AG>A ENST00000264012.4:c.830delG (Gly277AlafsTer20) - CDH3_000048 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008993 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.830del r.(?) p.(Gly277Alafs*20) Paternal (confirmed) - pathogenic (recessive) g.68713840del g.68679937del - - CDH3_000020 - PubMed: Blanco-Kelly 2017 - - Germline - - - - - DNA MLPA, SEQ - MLPA for ABCA4 ? patient PubMed: Blanco-Kelly 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - 1 Johan den Dunnen
+/. - c.830del r.(?) p.(Gly277Alafs*20) Both (homozygous) - pathogenic g.68713840del g.68679937del CDH3 c.830delG, p.Gly277AlafsTer20 - CDH3_000020 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008993 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
?/. - c.854G>T r.(?) p.(Gly285Val) Unknown - VUS g.68713864G>T g.68679961G>T CDH3(NM_001793.5):c.854G>T (p.G285V) - CDH3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.867+3G>T r.spl? p.? Unknown - likely benign g.68713880G>T g.68679977G>T CDH3(NM_001317195.1):c.867+3G>T - CDH3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.868-17C>T r.(=) p.(=) Unknown - benign g.68714854C>T g.68680951C>T CDH3(NM_001793.6):c.868-17C>T - CDH3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909G>T r.(?) p.(Met303Ile) Unknown - benign g.68714912G>T g.68681009G>T CDH3(NM_001793.4):c.909G>T (p.(Met303Ile)), CDH3(NM_001793.5):c.909G>T (p.M303I), CDH3(NM_001793.6):c.909G>T (p.M303I) - CDH3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.909G>T r.(?) p.(Met303Ile) Unknown - VUS g.68714912G>T g.68681009G>T CDH3(NM_001793.4):c.909G>T (p.(Met303Ile)), CDH3(NM_001793.5):c.909G>T (p.M303I), CDH3(NM_001793.6):c.909G>T (p.M303I) - CDH3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909G>T r.(?) p.(Met303Ile) Unknown - likely benign g.68714912G>T g.68681009G>T CDH3(NM_001793.4):c.909G>T (p.(Met303Ile)), CDH3(NM_001793.5):c.909G>T (p.M303I), CDH3(NM_001793.6):c.909G>T (p.M303I) - CDH3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.909G>T r.(?) p.(Met303Ile) Unknown ACMG VUS g.68714912G>T g.68681009G>T CDH3:NM_001793 c.G909T, p.M303I - CDH3_000028 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-379 PubMed: Rodriguez-Munoz 2020 family fRPN-179, proband F - Spain - - - - - 1 LOVD
?/. - c.919G>A r.(?) p.(Gly307Ser) Unknown - VUS g.68714922G>A - CDH3(NM_001793.6):c.919G>A (p.(Gly307Ser)) - CDH3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.977C>A r.(?) p.(Pro326His) Both (homozygous) - likely pathogenic g.68714980C>A g.68681077C>A Allele 1 c.977C>A (p.Pro326His), Allele 2 c.977C>A (p.Pro326His) - CDH3_000060 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
-/. - c.996+13C>T r.(=) p.(=) Unknown - benign g.68715012C>T g.68681109C>T CDH3(NM_001793.6):c.996+13C>T - CDH3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011G>C r.(?) p.(Val337=) Unknown - likely benign g.68716219G>C - CDH3(NM_001317196.2):c.846G>C (p.V282=) - CDH3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1033G>A r.(?) p.(Glu345Lys) Unknown - VUS g.68716241G>A g.68682338G>A CDH3 c.1033G>A, p.E345K - CDH3_000069 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-053 PubMed: Ng 2021 - M ? China - - - - - 1 LOVD
?/. - c.1037T>C r.(?) p.(Val346Ala) Unknown - VUS g.68716245T>C g.68682342T>C CDH3(NM_001793.4):c.1037T>C (p.(Val346Ala)) - CDH3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1063G>T r.(?) p.(Asp355Tyr) Paternal (confirmed) - likely pathogenic g.68716271G>T g.68682368G>T c.1063G>T, p.Asp355Tyr - CDH3_000063 Compound heterozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease III:1 PubMed: Schauren 2020 Family #2 F - Brazil - - - - - 1 LOVD
+?/. - c.1063G>T r.(?) p.(Asp355Tyr) Paternal (confirmed) - likely pathogenic g.68716271G>T g.68682368G>T c.1063G>T, p.Asp355Tyr - CDH3_000063 Compound heterozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease III:2 PubMed: Schauren 2020 Family #2 F - Brazil - - - - - 1 LOVD
+/. - c.1085G>A r.(?) p.(Trp362*) Unknown - pathogenic g.68716293G>A - - - CDH3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1086G>A r.(?) p.(Trp362*) Parent #1 - likely pathogenic g.68716294G>A g.68682391G>A CDH3, variant 1: c.316_317del/p.K106Efs*12, variant 2: c.1086G>A/p.W362* - CDH3_000068 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 785 PubMed: Weisschuh 2020 Filing key number: 305, Stargardt Disease, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 9 c.1086G>A r.(?) p.(Trp362Ter) Parent #1 ACMG pathogenic g.68716294G>A g.68682391G>A - - CDH3_000068 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070565 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.1111G>A r.(?) p.(Gly371Ser) Unknown - VUS g.68716319G>A - CDH3(NM_001793.6):c.1111G>A (p.(Gly371Ser)) - CDH3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116C>T r.(?) p.(=) Unknown - likely benign g.68716324C>T - CDH3(NM_001793.6):c.1116C>T (p.D372=) - CDH3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117G>A r.(?) p.(Asp373Asn) Unknown - likely benign g.68716325G>A g.68682422G>A CDH3(NM_001317195.1):c.1117G>A (p.D373N), CDH3(NM_001793.6):c.1117G>A (p.D373N) - CDH3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117G>A r.(?) p.(Asp373Asn) Unknown - likely benign g.68716325G>A - CDH3(NM_001317195.1):c.1117G>A (p.D373N), CDH3(NM_001793.6):c.1117G>A (p.D373N) - CDH3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120G>A r.(?) p.(Gly374Arg) Unknown - VUS g.68716328G>A g.68682425G>A CDH3 c.1120G>A, p.G374R - CDH3_000070 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-113 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
+/. - c.1182+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.68716391G>A g.68682488G>A NM_001793.4:c.1182+1G>A - CDH3_000051 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0186 , 14DG0187 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
-/. - c.1236C>T r.(?) p.(Asn412=) Unknown - benign g.68718539C>T - CDH3(NM_001317196.2):c.1071C>T (p.N357=) - CDH3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1257G>A r.(?) p.(=) Unknown - likely benign g.68718560G>A - CDH3(NM_001793.6):c.1257G>A (p.(Lys419=)) - CDH3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1285G>A r.(?) p.(Val429Ile) Unknown - likely benign g.68718588G>A - CDH3(NM_001317195.1):c.1285G>A (p.(Val429Ile)) - CDH3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1291_1294del r.(?) p.(Val431Argfs*3) Unknown - likely pathogenic g.68718594_68718597del g.68684691_68684694del RDH12 Ex.5 c.278T>C p.(Leu93Pro), Ex.6 c.375T>A p.(Asn125Lys), CDH3: Ex.10 c.1291_1294del p.(Val431Argfs*3) //EYS : Ex.43 c.9405T>A p.(Tyr3135*) - CDH3_000061 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1777 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.1298A>G r.(?) p.(Asp433Gly) Unknown - VUS g.68718601A>G g.68684698A>G CDH3(NM_001793.4):c.1298A>G (p.(Asp433Gly)) - CDH3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1308G>C r.(?) p.(Glu436Asp) Unknown - VUS g.68718611G>C - CDH3(NM_001317195.1):c.1308G>C (p.(Glu436Asp)) - CDH3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1339G>A r.(?) p.(Val447Ile) Unknown - benign g.68718642G>A g.68684739G>A CDH3(NM_001793.6):c.1339G>A (p.V447I) - CDH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1359C>G r.(?) p.(Ile453Met) Unknown - VUS g.68718662C>G g.68684759C>G CDH3(NM_001317195.1):c.1359C>G (p.I453M) - CDH3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1436T>C r.(?) p.(Leu479Pro) Unknown - likely benign g.68719119T>C g.68685216T>C CDH3(NM_001317195.1):c.1436T>C (p.L479P, p.(Leu479Pro)), CDH3(NM_001793.6):c.1436T>C (p.L479P) - CDH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436T>C r.(?) p.(Leu479Pro) Unknown - VUS g.68719119T>C - CDH3(NM_001317195.1):c.1436T>C (p.L479P, p.(Leu479Pro)), CDH3(NM_001793.6):c.1436T>C (p.L479P) - CDH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436T>C r.(?) p.(Leu479Pro) Unknown ACMG VUS g.68719119T>C g.68685216T>C CDH3:NM_001793 c.T1436C, p.L479P - CDH3_000010 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-461 PubMed: Rodriguez-Munoz 2020 family fRPN-AP, proband F - Spain - - - - - 1 LOVD
-?/. - c.1436T>C r.(?) p.(Leu479Pro) Unknown - likely benign g.68719119T>C - CDH3(NM_001317195.1):c.1436T>C (p.L479P, p.(Leu479Pro)), CDH3(NM_001793.6):c.1436T>C (p.L479P) - CDH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443C>T r.(?) p.(Asp481=) Unknown - likely benign g.68719126C>T g.68685223C>T CDH3(NM_001317195.1):c.1443C>T (p.D481=), CDH3(NM_001317196.2):c.1278C>T (p.D426=) - CDH3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443C>T r.(?) p.(Asp481=) Unknown - likely benign g.68719126C>T - CDH3(NM_001317195.1):c.1443C>T (p.D481=), CDH3(NM_001317196.2):c.1278C>T (p.D426=) - CDH3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500C>T r.(?) p.(Thr500=) Unknown - likely benign g.68719183C>T g.68685280C>T CDH3(NM_001317195.1):c.1500C>T (p.T500=) - CDH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1508G>A r.(?) p.(Arg503His) Both (homozygous) - pathogenic (recessive) g.68719191G>A g.68685288G>A - - CDH3_000052 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat116 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.1508G>A r.(?) p.(Arg503His) Unknown - likely pathogenic g.68719191G>A - CDH3(NM_001317195.1):c.1508G>A (p.R503H) - CDH3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11i_13i c.(1570+1_1571-1)_(2002+1_2003-1)del r.? p.? Parent #1 - likely pathogenic g.(68719254_68721414)_(68725830_68729157)del - chr16:68721410–68725834 - CDH3_000066 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14021329 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.1589G>T r.(?) p.(Gly530Val) Unknown - VUS g.68721433G>T - CDH3(NM_001793.4):c.1589G>T (p.(Gly530Val)) - CDH3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1592C>T r.(?) p.(Thr531Met) Unknown - VUS g.68721436C>T g.68687533C>T CDH3 c.1592C>T, p.T531M - CDH3_000071 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-050 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
?/. - c.1593G>A r.(?) p.(Thr531=) Unknown - VUS g.68721437G>A g.68687534G>A CDH3(NM_001793.6):c.1593G>A (p.T531=) - CDH3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1607T>C r.(?) p.(Leu536Pro) Parent #2 ACMG VUS g.68721451T>C g.68687548T>C - - CDH3_000085 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070565 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.1648C>T r.(?) p.(Pro550Ser) Unknown - VUS g.68721492C>T g.68687589C>T CDH3(NM_001317195.1):c.1648C>T (p.P550S) - CDH3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654C>G r.(?) p.(Gln552Glu) Unknown - likely benign g.68721498C>G g.68687595C>G CDH3(NM_001793.4):c.1654C>G (p.(Gln552Glu)) - CDH3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677C>T r.(?) p.(Ser559=) Unknown - likely benign g.68721521C>T g.68687618C>T CDH3(NM_001793.5):c.1677C>T (p.S559=) - CDH3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681G>A r.(?) p.(Val561Met) Unknown - likely benign g.68721525G>A g.68687622G>A CDH3(NM_001317195.1):c.1681G>A (p.V561M), CDH3(NM_001793.6):c.1681G>A (p.V561M) - CDH3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681G>A r.(?) p.(Val561Met) Unknown - likely benign g.68721525G>A g.68687622G>A CDH3(NM_001317195.1):c.1681G>A (p.V561M), CDH3(NM_001793.6):c.1681G>A (p.V561M) - CDH3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1703C>T r.(?) p.(Thr568Met) Unknown - VUS g.68721547C>T g.68687644C>T CDH3(NM_001317195.1):c.1703C>T (p.T568M) - CDH3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1795+1G>A r.spl? p.? Unknown - likely pathogenic g.68721640G>A - CDH3(NM_001793.4):c.1795+1G>A (p.?) - CDH3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1795+1G>A r.spl? p.? Unknown - pathogenic g.68721640G>A - CDH3(NM_001793.4):c.1795+1G>A (p.?) - CDH3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1795+1G>C r.spl? p.? Both (homozygous) - likely pathogenic g.68721640G>C g.68687737G>C c.1795+1G>C - CDH3_000064 Homozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease III:10 PubMed: Schauren 2020 Family #3 M - Brazil - - - - - 1 LOVD
+?/. - c.1795+1G>C r.spl? p.? Both (homozygous) - likely pathogenic g.68721640G>C g.68687737G>C c.1795+1G>C - CDH3_000064 Homozygous PubMed: Schauren 2020 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease III:11 PubMed: Schauren 2020 Family #3 M - Brazil - - - - - 1 LOVD
+?/. - c.1796-2A>G r.spl? p.? Unknown - likely pathogenic g.68725621A>G - CDH3(NM_001317196.2):c.1631-2A>G - CDH3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1851G>A r.(?) p.(Val617=) Unknown - likely benign g.68725678G>A g.68691775G>A CDH3(NM_001317195.1):c.1851G>A (p.V617=) - CDH3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893G>A r.(?) p.(Thr631=) Unknown - likely benign g.68725720G>A - CDH3(NM_001317195.1):c.1893G>A (p.T631=) - CDH3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1933G>A r.(?) p.(Glu645Lys) Unknown - likely benign g.68725760G>A g.68691857G>A CDH3(NM_001793.4):c.1933G>A (p.(Glu645Lys)) - CDH3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1942C>T r.(?) p.(Pro648Ser) Unknown - likely benign g.68725769C>T - CDH3(NM_001793.4):c.1942C>T (p.(Pro648Ser)) - CDH3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1956G>A r.(?) p.(Lys652=) Unknown - benign g.68725783G>A g.68691880G>A - - CDH3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2002+5G>C r.spl? p.? Unknown - likely pathogenic g.68725834G>C g.68691931G>C - - CDH3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2041C>T r.(?) p.(Arg681Trp) Unknown ACMG VUS g.68729196C>T g.68695293C>T CDH3:NM_001793 c.C2041T, p.R681W - CDH3_000065 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-188 PubMed: Rodriguez-Munoz 2020 family fRPN-71, proband F - Spain - - - - - 1 LOVD
-/. - c.2058C>T r.(?) p.(Pro686=) Unknown - benign g.68729213C>T g.68695310C>T CDH3(NM_001793.5):c.2058C>T (p.P686=), CDH3(NM_001793.6):c.2058C>T (p.P686=) - CDH3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2058C>T r.(?) p.(Pro686=) Unknown - likely benign g.68729213C>T g.68695310C>T CDH3(NM_001793.5):c.2058C>T (p.P686=), CDH3(NM_001793.6):c.2058C>T (p.P686=) - CDH3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2092G>A r.(?) p.(Val698Ile) Unknown - VUS g.68729247G>A g.68695344G>A CDH3(NM_001793.5):c.2092G>A (p.V698I) - CDH3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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