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.

40 entries on 1 page. Showing entries 1 - 40.
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+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown - pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Maternal (inferred) ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - 0/878 controls +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - 0/878 controls +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 3 Anne-Françoise Roux
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - 0/878 controls +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - 0/878 controls +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Paternal (confirmed) ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; unknown PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; causative PubMed: Eisenberger 2013, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - +BsaWI;+HpaII;-BsrI;-BpmI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Eisenberger 2013 Proband - also carries c.5603A>T p.(Asn1868Ile) in ABCA4 and c.401A>T - p.(Tyr134Phe) in AIPL1 F - Germany - - - - - 1 Anne-Françoise Roux
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+?/? 53 c.10561T>C r.(?) p.(Trp3521Arg) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215956104A>G g.215782762A>G - - USH2A_000429 Heterozygous; likely deleterious PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033264 Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq, arrayCGH - - USH2 - PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - pathogenic (recessive) g.215956104A>G - 1:215956104A>G ENST00000307340.3:c.10561T>C (Trp3521Arg) - USH2A_000429 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001035 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - likely pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 555 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - likely pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 574 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. 53 c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - pathogenic (recessive) g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: Dad 2016 - - Germline - - - - - DNA SEQ-NG - gene panel USH retinal disease USH2-9 PubMed: Dad 2016 - M no Denmark - - - - - 1 LOVD
+/. 53 c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - pathogenic (recessive) g.215956104A>G g.215782762A>G - - USH2A_000429 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-39 (D39) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+/. 53 c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - pathogenic (recessive) g.215956104A>G g.215782762A>G - - USH2A_000429 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-40 (D38) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+/. 53 c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - pathogenic (recessive) g.215956104A>G g.215782762A>G - - USH2A_000429 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-46 (D24) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: Neuhaus 2017 - rs111033264 Germline yes - - - - DNA SEQ - - USH Pat73 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 - pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: Neuhaus 2017 - rs111033264 Germline - - - - - DNA SEQ - - USH Pat126 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. 53 c.10561T>C r.(10561u>c) p.(Trp3521Arg) - Parent #1 ACMG pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W02-130 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. 53 c.10561T>C r.(?) p.(Trp3521Arg) - Unknown - pathogenic g.215956104A>G - c.10561T>C - USH2A_000429 - PubMed: Eisenberger-2013 - rs111033264 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown ACMG pathogenic g.215956104A>G g.215782762A>G USH2A c.10561T>C, p.(Trp3521Arg), c.(1971+1_1972-1), _(2993+1_2994-1), dup - USH2A_000429 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 297 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown - likely pathogenic g.215956104A>G g.215782762A>G c.10561T>C, p.Trp3521Arg - USH2A_000429 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease 003-032 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown - likely pathogenic g.215956104A>G g.215782762A>G c.10561T>C, p.Trp3521Arg - USH2A_000429 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease 003-247 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - likely pathogenic g.215956104A>G g.215782762A>G USH2A, variant 1: c.10561T>C/p.W3521R, variant 2: c.5777-2A>C/p.? - USH2A_000429 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 519 PubMed: Weisschuh 2020 Filing key number: 173, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - likely pathogenic g.215956104A>G g.215782762A>G USH2A, variant 1: c.176G>A/p.G59E, variant 2: c.10561T>C/p.W3521R - USH2A_000429 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 113 PubMed: Weisschuh 2020 Filing key number: 50, Usher syndrome type I, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - likely pathogenic g.215956104A>G g.215782762A>G USH2A, variant 1: c.2276G>T/p.C759F, variant 2: c.10561T>C/p.W3521R - USH2A_000429 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1024 PubMed: Weisschuh 2020 Filing key number: 540, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown - likely pathogenic g.215956104A>G g.215782762A>G USH2A c.10561T>C, p.Trp3521Arg - USH2A_000429 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001035 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.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - likely pathogenic g.215956104A>G g.215782762A>G USH2A c.10561T>C - USH2A_000429 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 24 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 - likely pathogenic g.215956104A>G g.215782762A>G USH2A c.10561T>C - USH2A_000429 no protein annotation written; heterozygous, biallelism assumed PubMed: Charng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 7 PubMed: Charng 2020 - M - Australia - - - - - 1 LOVD
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #1 ACMG pathogenic g.215956104A>G g.215782762A>G USH2A c.10561T>C, p.(Trp3521Arg) - USH2A_000429 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
+/. 53 c.10561T>C r.(10561u>c) p.(Trp3521Arg) - Parent #1 ACMG pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH34 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown ACMG pathogenic g.215956104A>G g.215782762A>G - - USH2A_000429 ACMG GN005 criteria: PS4_S PM2_P PM3_VS PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Glockle, N. et al., 2014; PubMed: Weisschuh, N. et al., 2020; PubMed: Sloan-Heggen, C. M. et al., 2016; PubMed: Neuhaus, C. et al., 2017 - rs111033264 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Parent #2 ACMG pathogenic (recessive) g.215956104A>G g.215782762A>G - - USH2A_000429 - PubMed: de Bruijn 2023 - - Germline - - - - - DNA SEQ-NG blood Published as WGS USH2 073258 PubMed: de Bruijn 2023 - - - - - - - - - 1 Suzanne de Bruijn
+/. - c.10561T>C r.(?) p.(Trp3521Arg) - Unknown ACMG pathogenic (recessive) g.215956104A>G g.215782762A>G - - USH2A_000429 ACMG PM2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 48352 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-670 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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