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.

48 entries on 1 page. Showing entries 1 - 48.
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+?/+ 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown - pathogenic g.216495263A>G g.216321921A>G USH2A(NM_206933.4):c.1606T>C (p.C536R) - USH2A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown - pathogenic g.216495263A>G g.216321921A>G USH2A(NM_206933.4):c.1606T>C (p.C536R) - USH2A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Maternal (confirmed) - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - 0/878 controls +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #1 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband M - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #1 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband F - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband M - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Parent #2 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Unknown - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Unknown - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Unknown - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous; Pathogenic PubMed: Avila-Fernandez 2010, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA PE, SEQ - APEX RPar - PubMed: Avila-Fernandez 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Paternal (inferred) - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - 0/306 controls +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Paternal (inferred) - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - 0/306 controls +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1606T>C r.(?) p.(Cys536Arg) Laminin EGF-like 1 (518-574) Unknown - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 Heterozygous; Mutation PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs111033273 Germline - - +HgaI;+BsaHI;-SfaNI;-MslI; - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 572 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 573 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 574 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1392 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Both (homozygous) - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Dad 2016 - - Germline - - - - - DNA SEQ-NG - gene panel USH retinal disease USH2-1 PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-23 (D33) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 family, 3 affeted M no Denmark - - - - - 3 Anne-Françoise Roux
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-23a (D50) Tranebjaerg 2011, PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-23b (D50) Tranebjaerg 2011, PubMed: Dad 2016 - M no Denmark - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-47 (D22) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 family, 2 affeted M no Denmark - - - - - 2 Anne-Françoise Roux
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-47a (D16) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1979 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Both (homozygous) - pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Neuhaus 2017 - rs111033273 Germline - - - - - DNA SEQ-NG - gene panel USH Pat76 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Parent #2 - pathogenic (recessive) g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-388-841 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Both (homozygous) - pathogenic g.216495263A>G - c.1606T>C - USH2A_000020 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Paternal (confirmed) - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease RP-1979 PubMed: Perez-Carro 2018 family RP-1979 F no Spain - - - - - 1 LOVD
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Paternal (confirmed) - likely pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease RP-1979_II:4 PubMed: Perez-Carro 2018 family RP-1979 F no Spain - - - - - 1 LOVD
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown ACMG pathogenic g.216495263A>G g.216321921A>G USH2A c.1606T>C, p.(Cys536Arg), c.9056-2A>G, p.(?) - USH2A_000020 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 282 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown - pathogenic g.216495263A>G g.216321921A>G c.1606T>C, p.Cys536Arg - USH2A_000020 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-248 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown ACMG likely pathogenic g.216495263A>G - - - USH2A_000020 - PubMed: Mansard et al, 2021 - rs111033273 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Maternal (confirmed) ACMG likely pathogenic g.216495263A>G - - - USH2A_000020 - PubMed: Mansard et al, 2021 - rs111033273 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1606T>C r.(?) p.(Cys536Arg) - Maternal (confirmed) ACMG likely pathogenic g.216495263A>G - - - USH2A_000020 - PubMed: Mansard et al, 2021 - rs111033273 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Unknown - pathogenic (recessive) g.216495263A>G - c.1606T>C - USH2A_000020 - PubMed: Colombo-2020 - rs111033273 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Unknown - pathogenic g.216495263A>G - c.1606T>C - USH2A_000020 - PubMed: Colombo-2020 - rs111033273 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - pathogenic g.216495263A>G - c.1606T>C - USH2A_000020 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - pathogenic g.216495263A>G - c.1606T>C - USH2A_000020 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 9 c.1606T>C r.(?) p.(Cys536Arg) - Parent #1 - pathogenic g.216495263A>G - c.1606T>C - USH2A_000020 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown ACMG pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-48471 rs111033273 Germline yes - - - - DNA SEQ-NG-I - - USH2A 2696787 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.1606T>C r.(?) p.(Cys536Arg) - Unknown ACMG pathogenic g.216495263A>G g.216321921A>G - - USH2A_000020 ACMG GN005 criteria: PM2_P PM3_VS PP1_P PP3_P PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Perez-Carro, R. et al., 2018; PubMed: Pennings, R. J. et al., 2004; PubMed: Colombo, L. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Colombo, L. et al., 2021; PubMed: Neuhaus, C. et al., 2017 - rs111033273 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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