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.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

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AscendingDNA change (cDNA)     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

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Disease     

ID_report     

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+/. - c.1876C>T r.(?) p.(Arg626Ter) - Unknown - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls -MmeI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Ebermann 2009 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Dreyer 2000 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous - - - Germline - - -MmeI - - DNA SEQ - - USH2 - - Relative M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous - - - Germline - - -MmeI - - DNA SEQ - - USH2 - - Relative M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous - - - Germline - - -MmeI - - DNA SEQ - - USH2 - - Relative M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Baux 2007 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Leroy 2001 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Leroy 2001 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Weston 2000 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Homozygous PubMed: Seyedahmadi 2004 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Homozygous PubMed: Seyedahmadi 2004 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Homozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls -MmeI - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Homozygous PubMed: Ouyang 2004 - - Germline - 0/256 controls -MmeI - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Sandberg 2008 - - Germline - - -MmeI - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Unknown - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Baux 2014 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; Mutation PubMed: Vozzi 2011 - - Germline - - -MmeI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; Mutation PubMed: Vozzi 2011 - - Germline - - -MmeI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Paternal (confirmed) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; Disease causing PubMed: Xu 2011 - - Germline - 0/190 controls -MmeI - - DNA SEQ, SSCA - - USH - PubMed: Xu 2011 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Paternal (confirmed) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; Disease causing PubMed: Xu 2011 - - Germline - 0/190 controls -MmeI - - DNA SEQ - - USH2 - PubMed: Xu 2011 Relative M - China - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Maternal (confirmed) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Baux 2014 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Lenassi 2015 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous PubMed: Lenassi 2015 - - Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - -MmeI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Paternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Maternal (inferred) - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #2 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 11 c.1876C>T r.(?) p.(Arg626*) Laminin EGF-like 2 (575-640) Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/. - c.1876C>T r.(?) p.(Arg626*) - Both (homozygous) ACMG pathogenic (recessive) g.216462717G>A g.216289375G>A - - USH2A_000010 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19700 PubMed: Sun 2018 family - yes China - - - - - 1 LOVD
+/. - c.1876C>T r.(?) p.(Arg626*) - Parent #1 ACMG pathogenic (recessive) g.216462717G>A g.216289375G>A - - USH2A_000010 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 73001 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.1876C>T r.(?) p.(Arg626*) - Parent #1 - pathogenic (recessive) g.216462717G>A g.216289375G>A - - USH2A_000010 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - - retinal disease RP-0485 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.1876C>T r.(?) p.(Arg626*) - Parent #2 - likely pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 586 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Parent #1 - pathogenic (recessive) g.216462717G>A g.216289375G>A - - USH2A_000010 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-45 (D42) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Parent #2 - pathogenic (recessive) g.216462717G>A g.216289375G>A - - USH2A_000010 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-50 (D23) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+/. - c.1876C>T r.(?) p.(Arg626*) - Parent #1 - pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 - PubMed: Neuhaus 2017 - rs534534437 Germline - - - - - DNA SEQ-NG - gene panel USH Pat131 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Unknown ACMG pathogenic g.216462717G>A g.216289375G>A NM_206933.2:c.1876C>T, NP_996816.2:p.(Arg626Ter), NC_000001.10:g.216462717G>A - USH2A_000010 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016103103 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. - c.1876C>T r.(?) p.(Arg626*) - Unknown - likely pathogenic g.216462717G>A g.216289375G>A c.1876C>T p.(Arg626*), c.2299delG p.(Glu767Serfs*21) - USH2A_000010 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 043 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+/. - c.1876C>T r.(?) p.(Arg626*) - Both (homozygous) - pathogenic g.216462717G>A g.216289375G>A USH2A c.1876C>T, p.Arg626Ter - USH2A_000010 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI627_001290 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.1876C>T r.(?) p.(Arg626*) - Unknown - pathogenic g.216462717G>A g.216289375G>A c.1876C>T, p.Arg626Ter - USH2A_000010 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI627_001290 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.1876C>T r.(?) p.(Arg626Ter) - Both (homozygous) ACMG pathogenic g.216462717G>A - - - USH2A_000010 - PubMed: Mansard et al, 2021 - rs534534437 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.1876C>T r.(?) p.(Arg626Ter) - Paternal (confirmed) ACMG pathogenic g.216462717G>A - - - USH2A_000010 - PubMed: Mansard et al, 2021 - rs534534437 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.1876C>T r.(?) p.(Arg626Ter) - Both (homozygous) ACMG pathogenic g.216462717G>A - - - USH2A_000010 - PubMed: Mansard et al, 2021 - rs534534437 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.1876C>T r.(?) p.(Arg626Ter) - Maternal (confirmed) ACMG pathogenic g.216462717G>A - - - USH2A_000010 - PubMed: Mansard et al, 2021 - rs534534437 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.1876C>T r.(?) p.(Arg626Ter) - Unknown ACMG pathogenic g.216462717G>A - - - USH2A_000010 - PubMed: Mansard et al, 2021 - rs534534437 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1876C>T r.(?) p.(Arg626*) - Parent #1 - likely pathogenic g.216462717G>A g.216289375G>A USH2A, variant 1: c.1876C>T/p.R626*, variant 2: c.10712C>T/p.T3571M - USH2A_000010 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 851 PubMed: Weisschuh 2020 Filing key number: 351, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 11 c.1876C>T r.(?) p.(Arg626*) - Unknown - likely pathogenic (recessive) g.216462717G>A - c.1876C>T - USH2A_000010 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Unknown - pathogenic g.216462717G>A - c.1876C>T - USH2A_000010 - PubMed: Colombo-2020 - rs534534437 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Unknown - pathogenic g.216462717G>A - c.1876C>T,p.R626X - USH2A_000010 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. - c.1876C>T r.(?) p.(Arg626*) - Parent #1 - likely pathogenic g.216462717G>A g.216289375G>A USH2A c.1876C>T - USH2A_000010 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 5 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Parent #2 ACMG pathogenic g.216462717G>A g.216289375G>A USH2A c.1876C>T, p.R626* - USH2A_000010 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf45 PubMed: Zhu 2021 family 207, patient USHsrf45 F - China - - - - - 1 LOVD
+/. 11 c.1876C>T r.(?) p.(Arg626*) - Parent #2 ACMG pathogenic g.216462717G>A g.216289375G>A USH2A c.1876C>T, p.R626* - USH2A_000010 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF985 PubMed: Zhu 2021 family 116, patient SRF985 M - China - - - - - 1 LOVD
+/. - c.1876C>T r.(?) p.(Arg626Ter) - Unknown ACMG pathogenic g.216462717G>A g.216289375G>A - - USH2A_000010 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PubMed: Lenassi, E. et al., 2015; PubMed: Sun, T. et al., 2018; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Jiang, L. et al., 2015; PubMed: Colombo, L. et al., 2022; PubMed: Wafa, T. T. et al., 2021; PubMed: Toms, M. et al., 2020; PubMed: Mansard, L. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021; PubMed: Neuhaus, C. et al., 2017 - rs534534437 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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