Full data view for gene PCDH15


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the transcript reference sequence.

1141 entries on 12 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.-189197_610-5166del r.? p.? Parent #2 - likely pathogenic g.56094632_56749853del g.54334872_54990093del c.-189197_c.610-5166del - PCDH15_000439 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 12002355 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1_2 c.-395-?_91+?del r.(?) p.(?) Paternal (inferred) - pathogenic g.56423932_56561051del - - - PCDH15_000190 homozygous; mutation Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bonnet 2016 - - Germline - - - - - DNA PCRq, arrayCGH - - USH1 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 1_2 c.-395-?_91+?del r.(?) p.(?) Parent #1 - pathogenic g.56423932_56561051del - - - PCDH15_000190 heterozygous; mutation Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq, arrayCGH - - USH1 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 1_2 c.-395-?_91+?del r.(?) p.(?) Parent #2 - pathogenic g.56423932_56561051del - - - PCDH15_000190 heterozygous; mutation Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq, arrayCGH - - USH1 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 1_2 c.-395-?_91+?del r.(?) p.(?) Maternal (inferred) - pathogenic g.56423932_56561051del - - - PCDH15_000190 homozygous; mutation Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bonnet 2016 - - Germline - - - - - DNA PCRq, arrayCGH - - USH1 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/. - c.(-29+1_-28-1)_(91+1_92-1)del r.spl p.(?) Parent #1 - likely pathogenic g.? g.? PCDH15, variant 1: c.3791_3794del/p.I1264fs*, variant 2 :Deletion exon 2 - CYP2C9_001038 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 70 PubMed: Weisschuh 2020 Filing key number: 35, Usher syndrome type I, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/+ 1i_2i c.-28-?_91+?del r.(?) p.(?) Unknown - pathogenic g.56423932_56424050del - E02del - PCDH15_000163 heterozygous; likely pathogenic Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Glöcke 2013 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Glöcke 2013 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/. _2_18i c.(?_-28-1)_(2220+1_2221-1)del r.0? p.0? Unknown - likely pathogenic g.(55782958_55826516)_(56424023_?)del g.(54023198_54066756)_(54664263_?)del del ex2_18 - PCDH15_000430 - PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15010972 PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-/. - c.-5A>G r.(?) p.(=) Unknown - benign g.56424027T>C g.54664267T>C PCDH15(NM_001142771.2):c.-5A>G - PCDH15_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20i c.1590+?::[NR_108046.1:n.271-?];[NM_001080512.1:c.2794+?]::c.1590+? r.-395_1590::[NR_108046.1:r.271_659],[NM_001080512.1:r.1_2794]::r.1591_*758 p.? Paternal (confirmed) - pathogenic g.[(55930526_55930707)_(55930922_55930971)del;(55930922_55930971)_(60622315_60622496)inv;(60622051_60622100)_(60622315_60622496)dup] g.[(54170766_54170947)_(54171162_54171211)del;(54171162_54171211)_(58862555_58862736)inv;(58862291_58862340)_(58862555_58862736)dup] - - BICC1_000014 SV consisting in the inversion of 4.6Mb in chr10. The breakpoints are located between exons 13 and 14 of PCDH15 on one end and between BICC1 and LINC00844 on the other end. PubMed: Vaché 2020, Journal: Vaché 2020 - - Germline yes - - - - DNA arrayCGH, RT-PCR, SEQ, SEQ-ON, SEQ-NG-I blood - USH1F patient PubMed: Vaché 2020, Journal: Vaché 2020 - F no France - - - - - 1 David Baux
+/+ _1_1i c.-395_(-29+1_-28-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(56424051_56560684)_(56561051_?)del g.(54664291_54800924)_(54801291_?)del del ex1 - PCDH15_000033 - PubMed: Roux 2006 - - Germline - - - - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/. _1_2i c.-395_91+15408{0} r.0? p.0? Both (homozygous) - likely pathogenic g.56408524_56572560del - celetion ex1-2 - PCDH15_000415 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam11 PubMed: Coppieters 2014 see paper - - - - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - 2596G>A (Val866Met) - CYP2C9_001038 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat15 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - 608C>T (Pro203Leu) - CYP2C9_001038 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat1 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - 2578C>T (Arg860Trp) - CYP2C9_001038 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat4 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #2 - likely pathogenic g.? - 2800C>T Arg934StopCGA>TGA - CYP2C9_001038 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 537 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_033056.3:c.5275_5277del (Pro1759del) - CYP2C9_001038 no genotypes reported PubMed: Sergouniotis 2016 - rs397517462 Germline - 2/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 2 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_033056.3:c.5308_5313del (Ala1770_Pro1771del) - CYP2C9_001038 no genotypes reported PubMed: Sergouniotis 2016 - rs397517465 Germline - 1/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_033056.3:c.5390_5395del (Leu1797_Pro1798del) - CYP2C9_001038 no genotypes reported PubMed: Sergouniotis 2016 - rs779691085 Germline - 1/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_033056.3:c.5622_5624del (Thr1876del) - CYP2C9_001038 no genotypes reported PubMed: Sergouniotis 2016 - rs113363047 Germline - 5/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 5 LOVD
+/. - c.? r.0? p.0? Both (homozygous) - pathogenic g.? - del ex1-3 - CYP2C9_001038 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - locus‐specific polymorphic microsatellite marker USH Pat8 PubMed: Neuhaus 2017 - - yes Syria - - - - - 1 LOVD
+/. - c.? r.0? p.0? Parent #2 - pathogenic g.? - del ex1-3 - CYP2C9_001038 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA MLPA, SEQ - locus‐specific polymorphic microsatellite marker USH Pat7 PubMed: Neuhaus 2017 - - yes Syria;Turkey - - - - - 1 LOVD
?/. - c.? r.? p.? Parent #1 - VUS g.? g.53822414_53822419del 5308_5313del (A1770_P1771del) - CYP2C9_001038 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 728 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.? r.? p.? Parent #2 - VUS g.? - 2899C>T (R967C) - CYP2C9_001038 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 728 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - OTTHUMT 00000291342:c.1238delT - CYP2C9_001038 - PubMed: Chen 2015 - - Germline yes - - - - DNA SEQ - - HL KLX213 PubMed: Chen 2015 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes China Uyghur - - - - 2 Johan den Dunnen
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.55829578_56723036del - chr10:g.55829578_56723036del - CYP2C9_001038 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001026 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.56104359_56108448del - chr10:g.56104359_56108448del - CYP2C9_001038 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001026 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.? r.spl p.(?) Both (homozygous) - likely pathogenic g.? g.? PCDH15 Deletion of the first three coding exons - CYP2C9_001038 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 39 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - p.R245* - CYP2C9_001038 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? Unknown - likely pathogenic g.? - p.R245* - CYP2C9_001038 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? Unknown - likely pathogenic g.? - p.R929* - CYP2C9_001038 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? Unknown - likely pathogenic g.? - p.R245* - CYP2C9_001038 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? Unknown - likely pathogenic g.? - p.R929* - CYP2C9_001038 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2001 - rs137853001 Germline - 0/240 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2001 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2001 - rs137853001 Germline - 0/240 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2001 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2001 - rs137853001 Germline - 0/240 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2001 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2001 - rs137853001 Germline - 0/240 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2001 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2001 - rs137853001 Germline - 0/240 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2001 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2001 - rs137853001 Germline - 0/240 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2001 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Proband M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative F - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Proband M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative F - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Alagramam 2001 - rs137853001 Germline - 0/100 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Alagramam 2001 Relative M - India - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2008 - rs137853001 Germline - 0/200 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2008 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2008 - rs137853001 Germline - 0/200 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2008 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2008 - rs137853001 Germline - 0/200 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2008 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2008 - rs137853001 Germline - 0/200 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2008 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2008 - rs137853001 Germline - 0/200 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2008 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Ahmed 2008 - rs137853001 Germline - 0/200 controls -TaqI - - DNA SEQ - - USH1 - PubMed: Ahmed 2008 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Jaijo 2010 - rs137853001 Germline - - -TaqI - - DNA SEQ - - USH3 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Parent #1 - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 heterozygous PubMed: Jaijo 2010 - rs137853001 Germline - - -TaqI - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Jaijo 2010 - rs137853001 Germline - - -TaqI - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Jaijo 2010 - rs137853001 Germline - - -TaqI - - DNA SEQ - - USH3 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous PubMed: Jaijo 2010 - rs137853001 Germline - - -TaqI - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Unknown - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 heterozygous PubMed: Roux 2011 - rs137853001 Germline - - -TaqI - - DNA MLPA, SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.7C>T r.(?) p.(Arg3*) Paternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous; mutation PubMed: Bonnet 2016 - rs137853001 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband M - Spain - - - - - 1 Crystel Bonnet
+/+ 2 c.7C>T r.(?) p.(Arg3*) Maternal (inferred) - pathogenic g.56424016G>A g.54664256G>A - - PCDH15_000053 homozygous; mutation PubMed: Bonnet 2016 - rs137853001 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband M - Spain - - - - - 1 Crystel Bonnet
+/. - c.7C>T r.(?) p.(Arg3Ter) Unknown - pathogenic g.56424016G>A g.54664256G>A PCDH15(NM_001354429.1):c.7C>T (p.R3*) - PCDH15_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7C>T r.(?) p.(Arg3Ter) Unknown - pathogenic g.56424016G>A - PCDH15(NM_001354429.1):c.7C>T (p.R3*) - PCDH15_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.16del r.(?) p.(Tyr6Ilefs*6) Unknown - pathogenic g.56424010del g.54664250del - - PCDH15_000070 heterozygous PubMed: Ouyang 2005 - - Germline - - - - - DNA SEQ - - USH1 - PubMed: Ouyang 2005 Proband M - United States - - - - - 1 Anne-Françoise Roux
-/? 2 c.55T>A r.(?) p.(Ser19Thr) Unknown ACMG likely benign g.56423968A>T g.54664208A>T - - PCDH15_000156 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - +BaeGI;-BanII; - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Besnard, Garcia-Garcia 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/. - c.55T>G r.(?) p.(Ser19Ala) Unknown - benign g.56423968A>C g.54664208A>C PCDH15(NM_001142771.2):c.55T>G (p.S19A) - PCDH15_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Unknown - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Paternal (inferred) - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 homozygous PubMed: Doucette 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - 69/156 controls +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - DFNB - PubMed: Doucette 2009 Proband F - Canada - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Maternal (inferred) - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 homozygous PubMed: Doucette 2009; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - 69/156 controls +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - DFNB - PubMed: Doucette 2009 Proband F - Canada - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Paternal (inferred) - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - Belgium - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Maternal (inferred) - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - Belgium - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Paternal (inferred) - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Maternal (inferred) - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Unknown - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA MLPA, SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Unknown - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Unknown - benign g.56423968A>C g.54664208A>C - - PCDH15_000004 heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs11004439 Germline - - +HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/. - c.55T>G r.(?) p.(Ser19Ala) Unknown - benign g.56423968A>C g.54664208A>C PCDH15(NM_001142771.2):c.55T>G (p.S19A) - PCDH15_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.55T>G r.(?) p.(Ser19Ala) Paternal (confirmed) ACMG benign g.56423968A>C g.54664208A>C - - PCDH15_000004 - PubMed: Vaché 2020, Journal: Vaché 2020 - - Germline - - - - - DNA arrayCGH, RT-PCR, SEQ, SEQ-ON, SEQ-NG-I blood - USH1F patient PubMed: Vaché 2020, Journal: Vaché 2020 - F no France - - - - - 1 David Baux
-?/. - c.63T>C r.(?) p.(Phe21=) Unknown - likely benign g.56423960A>G - PCDH15(NM_001354429.1):c.63T>C (p.F21=) - PCDH15_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 2i c.91+102T>C r.(=) p.(=) Unknown ACMG likely benign g.56423830A>G g.54664070A>G - - PCDH15_000121 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/. - c.92-57666A>G r.(=) p.(=) Unknown - benign g.56345303T>C g.54585543T>C PCDH15(NM_001142771.2):c.92-57141A>G - PCDH15_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2i c.92-57666A>G r.(=) p.(=) Paternal (inferred) - benign g.56345303T>C g.54585543T>C chr10:g.56345303T>C-c.97A>G-p.S33G in ENST00000361849 - PCDH15_000175 homozygous; non causative PubMed: Rong 2014 - rs4570492 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-57666A>G r.(=) p.(=) Maternal (inferred) - benign g.56345303T>C g.54585543T>C chr10:g.56345303T>C-c.97A>G-p.S33G in ENST00000361849 - PCDH15_000175 homozygous; non causative PubMed: Rong 2014 - rs4570492 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
+/+ 2i_3i c.92-13779_157+41368del r.? p.(Asp31_Asn52del) Parent #1 - pathogenic (recessive) g.56246204_56301416del g.54486444_54541656del - - PCDH15_000087 - PubMed: Aller 2010, PubMed: Jaijo 2012 - - Germline - - - - - DNA arrayCGH, MLPA, SEQ - - USH1 RP-1034 PubMed: Aller 2010, PubMed: Jaijo 2012 Proband - - Spain - - - - - 1 Anne-Françoise Roux
?/. 2i c.92-528C>T r.(=) p.(=) Unknown - VUS g.56288165G>A - c.92-528C>T - PCDH15_000440 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
-/. - c.92-493A>T r.(=) p.(=) Unknown - benign g.56288130T>A g.54528370T>A PCDH15(NM_001354429.2):c.92-493A>T - PCDH15_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2i c.92-52T>G r.(=) p.(=) Paternal (inferred) - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 homozygous PubMed: Baux 2008 - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband - also in Ammar-Khodja et al., 2009 - - Algeria - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-52T>G r.(=) p.(=) Maternal (inferred) - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 homozygous PubMed: Baux 2008 - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband - also in Ammar-Khodja et al., 2009 - - Algeria - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-52T>G r.(=) p.(=) Paternal (inferred) - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 homozygous PubMed: Roux 2011 - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - Belgium - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-52T>G r.(=) p.(=) Maternal (inferred) - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 homozygous PubMed: Roux 2011 - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband F - Belgium - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-52T>G r.(=) p.(=) Unknown - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 hemizygous PubMed: Roux 2011 - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA MLPA, SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-52T>G r.(=) p.(=) Unknown - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 heterozygous PubMed: Roux 2011 - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA MLPA, SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2i c.92-52T>G r.(=) p.(=) Parent #1 - benign g.56287689A>C g.54527929A>C - - PCDH15_000001 hemizygous - - rs10825347 Germline - - +DdeI;+BspCNI;+TspRI; - - DNA SEQ - - USH1 - - Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.92-10C>T r.(=) p.(=) Unknown - benign g.56287647G>A g.54527887G>A PCDH15(NM_001142771.2):c.107-10C>T, PCDH15(NM_001354429.1):c.92-10C>T - PCDH15_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92-10C>T r.(=) p.(=) Unknown - likely benign g.56287647G>A - PCDH15(NM_001142771.2):c.107-10C>T, PCDH15(NM_001354429.1):c.92-10C>T - PCDH15_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.92-2A>G r.(?) p.(?) Parent #1 - pathogenic g.56287639T>C g.54527879T>C - - PCDH15_000186 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 3 c.92-?_157+?del r.(?) p.(Asp31_Asn52del) Unknown - pathogenic g.56287572_56287637del - - - PCDH15_000089 heterozygous Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Roux 2011 - - Germline - - - - - DNA MLPA, SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 2i_5i c.(91+1_92-1)_(474+1_475-1)del r.? p.? Parent #2 - pathogenic g.(56106245_56128879)_(56287638_56423931)del g.(54346485_54369119)_(54527878_54664171)del del ex3-5 - PCDH15_000009 heterozygous PubMed: Roux 2006 - - Germline - - - - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
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