Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+?/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #2 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Homozygous PubMed: Dreyer 2000 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Homozygous PubMed: Dreyer 2000 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Dreyer 2000 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Pennings 2004(2) - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Aller 2004 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Jaijo 2010 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Leroy 2001 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Leroy 2001 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Weston 2000 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Weston 2000 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Baux 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Le Guédard-Méreuze 2010 - - Germline - - +CviKI_1;+Cac8I; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Paternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Baux 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Le Guédard-Méreuze 2010 - - Germline - - +CviKI_1;+Cac8I; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Baux 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Paternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Vaché 2012 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Paternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Baux 2014 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Mutation PubMed: Vozzi 2011 - - Germline - - +CviKI_1;+Cac8I; - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Mutation PubMed: Vozzi 2011 - - Germline - - +CviKI_1;+Cac8I; - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Corton 2013 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Corton 2013 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Corton 2013 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - RPar - PubMed: Corton 2013 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (confirmed) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; Pathogenic PubMed: Corton 2013 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - RPar - PubMed: Corton 2013 Relative F - Spain - - - - - 1 Anne-Françoise Roux
-/- 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Homozygous PubMed: Baux 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Homozygous PubMed: Baux 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous PubMed: Baux 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Homozygous; mutation PubMed: Krawitz 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.920_923dup r.(?) p.(His308Glnfs*16) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Homozygous; mutation PubMed: Krawitz 2014 - - Germline - - +CviKI_1;+Cac8I; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.920_923dup r.(?) p.(His308Serfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq, arrayCGH - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 6 c.920_923dup r.(?) p.(His308Serfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 6 c.920_923dup r.(?) p.(His308Serfs*16) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 6 c.920_923dup r.(?) p.(His308Serfs*16) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 6 c.920_923dup r.(?) p.(His308Serfs*16) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A(NM_206933.2):c.920_923dupGCCA (p.H308Qfs*16), USH2A(NM_206933.4):c.920_923dupGCCA (p.H308Qfs*16) - USH2A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Both (homozygous) - likely pathogenic (recessive) g.216498867_216498870dup g.216325525_216325528dup c.920_923dupGCCA - USH2A_000019 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #2 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup 917_918insCAGC - USH2A_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 97 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 864 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Parent #2 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat73 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Both (homozygous) - pathogenic (recessive) g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-16 (D68) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 family, 2 affeted F no Denmark - - - - - 2 Anne-Françoise Roux
+/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Both (homozygous) - pathogenic (recessive) g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-16a PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Both (homozygous) - pathogenic (recessive) g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-49 (D14) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #2 - pathogenic (recessive) g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-57 (D15) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup 920_923dupGCCA - USH2A_000019 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13008826 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Parent #2 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup 920_923dupGCCA - USH2A_000019 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP-1319 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Parent #2 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup 920_923dupGCCA - USH2A_000019 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1802 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat41 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat132 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #2 - pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat32 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Parent #1 - pathogenic (recessive) g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-406-874 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 6 c.920_923dup r.(920_923dup) p.(His308Glnfs*16) - Parent #2 ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0949 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
+/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic (recessive) g.216498872_216498873insGCTG - c.917_918insCAGC - USH2A_000019 - PubMed: Nishiguchi-2012 - - Unknown - - - - - DNA SEQ blood - Healthy/Control - PubMed: Nishiguchi-2012 - - - - Italian - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Paternal (confirmed) - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease RP-1802 PubMed: Perez-Carro 2018 family RP-1802 F no Spain - - - - - 1 LOVD
+/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic g.216498867_216498870dup - c.920_923dupGCCA - USH2A_000019 - PubMed: Corton-2013 - - Germline - - - - - DNA SEQ-NG blood WES retinal disease P-08-0177 PubMed: Corton-2013 - - no - Spanish - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dup, p.(His308Glnfs*16), c.3005G>C, p.(Cys1002Ser) - USH2A_000019 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 273 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.2276G>T, p.(Cys759Phe), c.920_923dup, p.(His308Glnfs*16) - USH2A_000019 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 299 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup c.920_923dupGCCA p.(His308Glnfs*16), c.3518C>A p.(Ser1173*) - USH2A_000019 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 048 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A Ex.6 c.920_923dup p.(His308Glnfs*16), Ex.13 c.2276G>T p.(Cys759Phe) - USH2A_000019 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1319 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A Ex.6 c.920_923dup p.(His308Glnfs*16), Ex.13 c.2276G>T p.(Cys759Phe) - USH2A_000019 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1802 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Maternal (inferred) ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A M1: c.923_924dupGCCA;p. His308Glnfs*16 - USH2A_000019 heterozygous PubMed: Gonzalez-del Pozo 2020 - rs397518043 Germline yes - - - - DNA SEQ blood - retinal disease III:17 PubMed: Gonzalez-del Pozo 2020 son of brother of II:1 M - Spain - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Maternal (inferred) ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A M1: c.923_924dupGCCA;p. His308Glnfs*16 - USH2A_000019 error in annotation, c.923_924dupGCCA should be c.920_923dup, heterozygous PubMed: Gonzalez-del Pozo 2020 - rs397518043 Germline yes - - - - DNA SEQ-NG blood whole genome sequencing retinal disease III:23 PubMed: Gonzalez-del Pozo 2020 son of brother of II:1 M - Spain - - - - - 1 LOVD
?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - VUS g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dup, p.His308GlnfsTer16 - USH2A_000019 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-038 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup c.920_923dup, p.His308GlnfsTer16 - USH2A_000019 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-171 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup c.920_923dup, p.His308GlnfsTer16 - USH2A_000019 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 160-030 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dupGCCA, p.H308Qfs - USH2A_000019 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 107 PubMed: Jauregui 2020 - F - (United States) Hispanic - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Paternal (confirmed) ACMG pathogenic g.216498869_216498872dup - 920_923dupGCCA - USH2A_000019 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Unknown ACMG pathogenic g.216498869_216498872dup - 920_923dupGCCA - USH2A_000019 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Unknown ACMG pathogenic g.216498869_216498872dup - 920_923dupGCCA - USH2A_000019 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Maternal (confirmed) ACMG pathogenic g.216498869_216498872dup - 920_923dupGCCA - USH2A_000019 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Both (homozygous) ACMG pathogenic g.216498869_216498872dup - 920_923dupGCCA - USH2A_000019 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Paternal (confirmed) ACMG pathogenic g.216498869_216498872dup - 920_923dupGCCA - USH2A_000019 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A, variant 1: c.920_923dup/p.H308Qfs*16, variant 2: c.2299del/p.E767Sfs*21 - USH2A_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 591 PubMed: Weisschuh 2020 Filing key number: 212, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A, variant 1: c.920_923dup/p.H308Qfs*16, variant 2: c.13822C>T/p.R4608* - USH2A_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 784 PubMed: Weisschuh 2020 Filing key number: 303, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A, variant 1: c.14225_14232dup/p.V4745Rfs*4, variant 2: c.920_923dup/p.H308Qfs*16 - USH2A_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 429 PubMed: Weisschuh 2020 Filing key number: 136, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A, variant 1: c.11864G>A/p.W3955*, variant 2: c.920_923dup/p.H308Qfs*16 - USH2A_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 693 PubMed: Weisschuh 2020 Filing key number: 256, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A, variant 1: c.11105G>A/p.W3702*, variant 2: c.920_923dup/p.H308Qfs*16 - USH2A_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 796 PubMed: Weisschuh 2020 Filing key number: 314, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dupGCCA, p.His308GlnfsTer16 - USH2A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005258 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.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dupGCCA, p.His308GlnfsTer16 - USH2A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000985 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.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dupGCCA, p.His308GlnfsTer16 - USH2A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007683 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498867_216498870dup - c.920_923dupGCCA,p.H308QfsX16 - USH2A_000019 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498867_216498870dup - c.920_923dupGCCA,p.H308QfsX16 - USH2A_000019 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498867_216498870dup - c.920_923dupGCCA, p.H308Qfs*16 - USH2A_000019 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup - c.920-923dupGCCA, p.H308Qfs*16 - USH2A_000019 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 6 c.920_923dup r.(?) p.(His308Glnfs*16) - Unknown - likely pathogenic g.216498869_216498872dup - c.920-923dupGCCA, p.H308Qfs*16 - USH2A_000019 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #1 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dup - USH2A_000019 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 59 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #2 - likely pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dup - USH2A_000019 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 21 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.920_923dup r.(?) p.(His308Glnfs*16) - Parent #2 ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup USH2A c.920_923dup, p.(His308Glnfs*16) - USH2A_000019 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0949 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. 6 c.920_923dup r.(920_923dup) p.(His308GlnfsTer16) - Parent #1 ACMG pathogenic g.216498869_216498872dup g.216325527_216325530dup - - USH2A_000019 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP25 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.920_923dup r.(?) p.(His308GlnfsTer16) - Unknown - pathogenic g.216498869_216498872dup - USH2A(NM_206933.2):c.920_923dupGCCA (p.H308Qfs*16), USH2A(NM_206933.4):c.920_923dupGCCA (p.H308Qfs*16) - USH2A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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