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.

43 entries on 1 page. Showing entries 1 - 43.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Template     

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Disease     

ID_report     

Reference     

Remarks     

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+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs397518003 Germline - 0/878 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs397518003 Germline - 0/878 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; E11 skipping PubMed: Jaijo 2010 - rs397518003 Germline - 0/100 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA minigene, SEQ - - USH - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; E11 skipping PubMed: Jaijo 2010 - rs397518003 Germline - 0/100 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous; E11 skipping PubMed: Jaijo 2010 - rs397518003 Germline - 0/100 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous; E11 skipping PubMed: Jaijo 2010 - rs397518003 Germline - 0/100 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous PubMed: Bernal 2003 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous PubMed: Bernal 2003 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous PubMed: Sandberg 2008 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; Mutation PubMed: Vozzi 2011 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; Mutation PubMed: Vozzi 2011 - rs397518003 Germline - 0/100 controls +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous PubMed: Baux 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.(1841_1971del) p.(Gly614Aspfs*6) Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous PubMed: Baux 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Maternal (confirmed) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; damaging PubMed: Vona 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Vona 2014 Proband - too young at the time of the study to establish the RP diagnosis M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Maternal (confirmed) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; damaging PubMed: Vona 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Vona 2014 relative - too young at the time of the study for RP diagnosis F - Germany - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous PubMed: Sodi 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous PubMed: Sodi 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous PubMed: Sodi 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Homozygous PubMed: Sodi 2014 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Paternal (confirmed) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs397518003 Germline - - +FauI;+AciI;-EcoNI;-HpyCH4V; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; E11 skipping PubMed: Bonnet 2016 - rs397518003 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+/+ 10i c.1841-2A>G r.1841_1971del p.Gly614Aspfs*6 Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 Heterozygous; E11 skipping PubMed: Bonnet 2016 - rs397518003 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/. - c.1841-2A>G r.spl? p.? - Unknown - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1841-2A>G r.spl p.? - Both (homozygous) - pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3781 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.1841-2A>G r.spl p.? - Parent #2 - likely pathogenic g.216462754T>C g.216289412T>C IVS10-2A>G - USH2A_000183 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 327 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1841-2A>G r.spl p.? - Parent #2 - likely pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat79 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.1841-2A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216462754T>C g.216289412T>C c.1841-2A>G - USH2A_000183 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM053 PubMed: Zhang 2016 simplex case M - United States Hispanic - - - - 1 LOVD
+/. - c.1841-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.216462754T>C g.216289412T>C USH2A:NM_206933 c.1841-2A>G, p.? - USH2A_000183 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-452 PubMed: Rodriguez-Munoz 2020 family fRPN-204, proband M - Spain - - - - - 1 LOVD
+/. - c.1841-2A>G r.spl p.(?) - Unknown - pathogenic g.216462754T>C g.216289412T>C USH2A c.1841-2A>G - USH2A_000183 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI726_001443 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.1841-2A>G r.(?) p.(Gly614AspfsTer6) - Maternal (confirmed) ACMG pathogenic g.216462754T>C - - - USH2A_000183 - PubMed: Mansard et al, 2021 - rs397518003 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.1841-2A>G r.(?) p.(Gly614AspfsTer6) - Unknown ACMG pathogenic g.216462754T>C - - - USH2A_000183 - PubMed: Mansard et al, 2021 - rs397518003 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1841-2A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216462754T>C g.216289412T>C USH2A, variant 1: c.1841-2A>G/p.?, variant 2: c.12448A>G/p.T4150A - USH2A_000183 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 574 PubMed: Weisschuh 2020 Filing key number: 207, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Unknown - pathogenic (recessive) g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Unknown - pathogenic (recessive) g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Unknown - pathogenic (recessive) g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Unknown - pathogenic (recessive) g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Both (homozygous) - pathogenic g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Unknown - pathogenic g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl? p.? - Unknown - pathogenic g.216462754T>C - c.1841-2A>G - USH2A_000183 - PubMed: Colombo-2020 - rs397518003 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.1841-2A>G r.spl p.(?) - Parent #1 - pathogenic g.216462754T>C g.216289412T>C USH2A c.1841-2A>G, p.(?) - USH2A_000183 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 18 PubMed: Falsini 2021 - M - Italy - - - - - 1 LOVD
+/. 10i c.1841-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH22 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.1841-2A>G r.spl p.? - Unknown ACMG pathogenic g.216462754T>C g.216289412T>C - - USH2A_000183 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_P PubMed: Falsini, B. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Cabanillas, R. et al., 2018; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Colombo, L. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Santana, E. E. et al., 2019; PubMed: Rodriguez-Munoz, A. et al., 2020; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021 - rs397518003 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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