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.

50 entries on 1 page. Showing entries 1 - 50.
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+/. - c.949C>A r.(?) p.(Arg317=) - Unknown - pathogenic g.216498841G>T g.216325499G>T USH2A(NM_206933.4):c.949C>A (p.R317=) - USH2A_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004(2) - rs111033272 Germline - 0/368 controls +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Parent #1 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Van Wijk 2004 - rs111033272 Germline - 0/368 controls +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004(2) - rs111033272 Germline - 0/368 controls +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Pennings 2004(2) - rs111033272 Germline - 0/368 controls +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Maternal (confirmed) ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Baux 2014 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[949c>a, 951_1143del] p.[=, Tyr318Cysfs*17] Laminin N-terminal (271-517) Parent #1 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Vaché 2010 - rs111033272 Germline - 0/114 controls +MnlI;-AciI;-MspA1I; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Relative F - France - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[949c>a, 951_1143del] p.[=, Tyr318Cysfs*17] Laminin N-terminal (271-517) Parent #1 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Vaché 2010 - rs111033272 Germline - 0/114 controls +MnlI;-AciI;-MspA1I; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Maternal (confirmed) ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Baux 2014 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Maternal (confirmed) ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Baux 2014 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Parent #2 ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011 - rs111033272 Germline - 0/306 controls +MnlI;-AciI;-MspA1I; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
+/? 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Maternal (confirmed) ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.[(=, Tyr318Cysfs*17)] Laminin N-terminal (271-517) Unknown ACMG likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs111033272 Germline - - +MnlI;-AciI;-MspA1I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.(=,Tyr318Cysfs*17) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.(=,Tyr318Cysfs*17) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.(=,Tyr318Cysfs*17) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.(=,Tyr318Cysfs*17) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.(=,Tyr318Cysfs*17) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 6 c.949C>A r.[(949c>a, 951_1143del)] p.(=,Tyr318Cysfs*17) Laminin N-terminal (271-517) Unknown - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/. - c.949C>A r.(?) p.(Arg317=) - Unknown - likely pathogenic g.216498841G>T g.216325499G>T USH2A(NM_206933.4):c.949C>A (p.R317=) - USH2A_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.949C>A r.spl? p.(Arg317=) - Parent #2 - pathogenic (recessive) g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease Fam9P12 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - 1 Sandro Banfi
+?/. - c.949C>A r.spl p.? - Parent #1 - likely pathogenic g.216498841G>T - - - USH2A_000155 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.949C>A r.spl p.? - Parent #2 - pathogenic (recessive) g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2037 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.949C>A r.(?) p.(Arg317=) - Parent #2 - likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 547 PubMed: Stone 2017 family, 4 affected M - (United States) - - - - - 4 LOVD
+/. 6 c.949C>A r.(?) p.(Arg317=) - Parent #1 - pathogenic (recessive) g.216498841G>T g.216325499G>T - - USH2A_000155 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-38 Tranebjaerg 2011, PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+?/. - c.949C>A r.(?) p.(Arg317=) - Unknown - likely pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13018012 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.949C>A r.spl? p.(Arg317=) - Parent #1 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat43 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.949C>A r.spl? p.(Arg317=) - Parent #2 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat34 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.949C>A r.spl? p.(Arg317=) - Parent #2 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat46 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. 6 c.949C>A r.[(949c>a,951_1143del)] p.(=,Tyr318Cysfs*17) - Parent #2 ACMG pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W02-130 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+?/. 6 c.949C>A r.(?) p.(Arg317=) - Unknown - likely pathogenic g.216498841G>T g.216325499G>T USH2A Ex.6 c.949C>A p.(Arg317Arg), Ex.42 c.8254G>A p.(Gly2752Arg) - USH2A_000155 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-3022 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.949C>A r.(?) p.([(=,Tyr318CysfsTer17)]) - Unknown ACMG likely pathogenic g.216498841G>T - - - USH2A_000155 - PubMed: Mansard et al, 2021 - rs111033272 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.949C>A r.(?) p.([(=,Tyr318CysfsTer17)]) - Paternal (confirmed) ACMG likely pathogenic g.216498841G>T - - - USH2A_000155 - PubMed: Mansard et al, 2021 - rs111033272 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.949C>A r.(?) p.(Arg317=) - Parent #1 - likely pathogenic g.216498841G>T g.216325499G>T USH2A, variant 1: c.949C>A/p.R317R, variant 2: c.15496A>G/p.I5166V - USH2A_000155 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 310 PubMed: Weisschuh 2020 Filing key number: 103, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.949C>A r.(?) p.(Arg317=) - Parent #1 - likely pathogenic g.216498841G>T g.216325499G>T USH2A, variant 1: c.949C>A/p.R317R, variant 2: c.15496A>G/p.I5166V - USH2A_000155 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 311 PubMed: Weisschuh 2020 Filing key number: 103, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.949C>A r.(?) p.(Arg317=) - Parent #1 - likely pathogenic g.216498841G>T g.216325499G>T USH2A, variant 1: c.949C>A/p.R317R, variant 2: c.3692G>A/p.S1231N - USH2A_000155 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1033 PubMed: Weisschuh 2020 Filing key number: 591, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 6 c.949C>A r.(=) p.(=) - Unknown - likely pathogenic g.216498841G>T - c.949C>A - USH2A_000155 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. - c.949C>A r.(?) p.(Arg317=) - Parent #2 - pathogenic g.216498841G>T g.216325499G>T USH2A allele 1: Exon 27 deletion, g.[216250408_216252636del;216247741_216250331del], allele 2: p.Arg317Arg - USH2A_000155 - PubMed: Austin-Tse 2018 SCV000065652 - Germline yes - - - - DNA SEQ-NG-I, PCRdd - sequenced by dideoxy sequencing or hearing loss gene panel by either microarray-based resequencing or oligonucleotide-based target capture followed by next generation sequencing using Illumina HiSeq2000 or MiSeq instrument SNHL R-5 PubMed: Austin-Tse 2018 Retrospective Cohort ? - United States - - - - - 1 LOVD
+/. - c.949C>A r.(?) p.(Arg317=) - Maternal (confirmed) - pathogenic g.216498841G>T g.216325499G>T USH2A c.949C>A, p.(Arg317=) - USH2A_000155 - PubMed: Panagiotou 2020 - - Germline yes - - - - DNA SEQ-NG saliva whole exome sequencing USH II:1 PubMed: Panagiotou 2020 - F - China - - - - right eye: 23-gauge three-port pars plana vitrectomy, internal limiting membrane peeling assisted by membrane dual blue and tamponade with 16% hexafluoroethane (C2F6) gas; posterior subcapsular cataract: surgery with phacoemulsification; intraocular lens 1 LOVD
+/. - c.949C>A r.(?) p.[=,Tyr318Cysfs*17] - Parent #2 ACMG pathogenic g.216498841G>T g.216325499G>T USH2A c.949C>A, p.[=,Tyr318Cysfs*17] - USH2A_000155 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-130 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+?/. 6 c.949C>A r.(=) p.[= Tyr318Cysfs*17] - Parent #1 - likely pathogenic g.216498841G>T - c.949C>A - USH2A_000155 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.949C>A r.(949c>a,951_1143del) p.(=,Tyr318CysfsTer17) - Unknown ACMG pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 ACMG GN005 criteria: PS4_P PM2_P PM3_VS PP3_P PP1_P PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Pennings, R. J. et al., 2004; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021; PubMed: Panagiotou, E. S. et al., 2020; PubMed: Karali, M. et al., 2019; PubMed: Weisschuh, N. et al., 2020; PubMed: Neuhaus, C. et al., 2017 - rs111033272 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.949C>A r.spl p.? - Parent #1 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Midgley 2024 - rs111033272 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat63 PubMed: Midgley 2024 - M - South Africa white - - - - 1 Johan den Dunnen
+/. - c.949C>A r.spl p.? - Parent #2 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Midgley 2024 - rs111033272 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat28 PubMed: Midgley 2024 - M - South Africa white - - - - 1 Johan den Dunnen
+/. - c.949C>A r.spl p.? - Parent #2 - pathogenic g.216498841G>T g.216325499G>T - - USH2A_000155 - PubMed: Midgley 2024 - rs111033272 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat33 PubMed: Midgley 2024 - M - South Africa white - - - - 1 Johan den Dunnen
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