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.

32 entries on 1 page. Showing entries 1 - 32.
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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     

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Re-site     

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Methylation     

Template     

Technique     

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Disease     

ID_report     

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Panel size     

Owner     
+/+ 28i c.5776+1G>A r.spl p.? - Parent #2 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Jaijo 2010 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 28i c.5776+1G>A r.spl p.? - Parent #2 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Jaijo 2010 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 28i c.5776+1G>A r.spl p.? - Parent #2 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Sandberg 2008 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Paternal (confirmed) - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Baux 2014 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Maternal (confirmed) - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Hemizygous PubMed: Baux 2014 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH1 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Parent #2 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH3 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Paternal (inferred) - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Homozygous; likely pathogenic PubMed: Glöckle 2014 - - Germline - - -EcoNI;-BslI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Maternal (inferred) - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Homozygous; likely pathogenic PubMed: Glöckle 2014 - - Germline - - -EcoNI;-BslI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Unknown - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Lenassi 2015 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+/+ 28i c.5776+1G>A r.spl p.? - Parent #2 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Sodi 2014 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Parent #1 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous PubMed: Sodi 2014 - - Germline - - -EcoNI;-BslI; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Maternal (confirmed) - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - - Germline - - -EcoNI;-BslI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 28i c.5776+1G>A r.spl p.? - Parent #2 - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+?/+ - c.5776+1G>A r.spl? p.? - Both (homozygous) - pathogenic (recessive) g.216246438C>T g.216073096C>T - - USH2A_000175 - - - - Germline - - - - - DNA SEQ-NG-I - 176 gene panel USH2A - - - F - - - - - - - 1 Omamah Jiman
+/. - c.5776+1G>A r.spl p.? - Unknown ACMG pathogenic g.216246438C>T - - - USH2A_000175 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.5776+1G>A r.spl p.? - Unknown ACMG pathogenic g.216246438C>T - - - USH2A_000175 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+?/. - c.5776+1G>A r.spl p.(Gly1858_Thr1925del) - Both (homozygous) - likely pathogenic (recessive) g.216246438C>T g.216073096C>T - - USH2A_000175 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1872 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5776+1G>A r.spl p.? - Both (homozygous) - pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat84 PubMed: Neuhaus 2017 - - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.? - Parent #2 - likely pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1558 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.? - Parent #1 - likely pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 28 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. 28i c.5776+1G>A r.(?) p.(?) - Unknown - likely pathogenic g.216246438C>T g.216073096C>T USH2A Ex.13 c.2276G>T p.(Cys759Phe), IVS28 c.5776+1G>A p.(?) - USH2A_000175 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2385 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.(?) - Both (homozygous) - likely pathogenic g.216246438C>T g.216073096C>T USH2A;NM206933.2;c.[5776+1G>A];[5776+1G>A] - USH2A_000175 homozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 3 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.(?) - Unknown - likely pathogenic g.216246438C>T g.216073096C>T USH2A;NM_206933.2;c.[5776+1G>A(;)(11047+1_11048-1)_(11711+1_11712-1)dup];exons 57-60 (3copies) - USH2A_000175 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 7 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.5776+1G>A r.spl p.(?) - Unknown - pathogenic g.216246438C>T g.216073096C>T USH2A c.5776+1G>A - USH2A_000175 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI753_001482 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.5776+1G>A r.(?) p.(?) - Unknown ACMG pathogenic g.216246438C>T - - - USH2A_000175 - PubMed: Mansard et al, 2021 - rs876657731 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 28i c.5776+1G>A r.spl? p.? - Unknown - likely pathogenic g.216246438C>T - c.5776+1G>A - USH2A_000175 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 10003406 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.(?) - Parent #1 - likely pathogenic g.216246438C>T g.216073096C>T USH2A, variant 1: c.5776+1G>A/p.?, variant 2: c.5776+1G>A/p.? - USH2A_000175 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 45 PubMed: Weisschuh 2020 Filing key number: 24, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.(?) - Parent #1 - likely pathogenic g.216246438C>T g.216073096C>T USH2A, variant 1: c.2276G>T/p.C759F, variant 2: c.5776+1G>A/p.? - USH2A_000175 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1039 PubMed: Weisschuh 2020 Filing key number: 605, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 28i c.5776+1G>A r.spl? p.? - Unknown - pathogenic g.216246438C>T - c.5776+1G>A - USH2A_000175 - PubMed: Colombo-2020 - rs876657731 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.5776+1G>A r.spl p.(?) - Parent #1 - likely pathogenic g.216246438C>T g.216073096C>T USH2A c.5776+1G>A, p.(?) - USH2A_000175 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) USH 10003406 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.5776+1G>A r.spl? p.? - Unknown - pathogenic g.216246438C>T - - - USH2A_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5776+1G>A r.spl p.? - Unknown ACMG pathogenic g.216246438C>T g.216073096C>T - - USH2A_000175 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_M PubMed: Lenassi, E. et al., 2015; PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Bonnet, C. et al., 2016; PubMed: Glockle, N. et al., 2014; PubMed: Colombo, L. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Karali, M. et al., 2019; PubMed: Khalaileh, A. et al., 2018; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021; PubMed: Neuhaus, C. et al., 2017 - rs876657731 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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