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.

46 entries on 1 page. Showing entries 1 - 46.
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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     

ClinVar ID     

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Disease     

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+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.1000c>t p.Arg334Trp Laminin N-terminal (271-517) Unknown - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - 0/1176 controls - - - DNA, RNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Auslender 2008, USMA missense analysis, missense variant in MSV3d - - Germline - 2/456 controls - - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Auslender 2008, USMA missense analysis, missense variant in MSV3d - - Germline - 2/456 controls - - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Auslender 2008, USMA missense analysis, missense variant in MSV3d - - Germline - 2/456 controls - - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative M - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Auslender 2008, USMA missense analysis, missense variant in MSV3d - - Germline - 2/456 controls - - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative M - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Adato 2000 Relative - - Iceland - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Ouyang 2004, USMA missense analysis, missense variant in MSV3d - - Germline - 0/256 controls - - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (confirmed) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Unknown - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous; mutation PubMed: Krawitz 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Homozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1000C>T r.(1000c>t) p.(Arg334Trp) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown ACMG pathogenic g.216498790G>A - - - USH2A_000025 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown ACMG pathogenic g.216498790G>A - - - USH2A_000025 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+?/. - c.1000C>T r.(?) p.(Arg334Trp) - Parent #1 - likely pathogenic (recessive) g.216498790G>A g.216325448G>A - - USH2A_000025 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam14PatTO18 PubMed: Eandi 2017 - M - Italy - - - - - 1 LOVD
+/. 6 c.1000C>T r.(?) p.(Arg334Trp) - Parent #2 - pathogenic (recessive) g.216498790G>A g.216325448G>A - - USH2A_000025 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-32 (D25) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - M no Denmark - - - - - 1 Anne-Françoise Roux
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Parent #2 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 247 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Parent #1 - pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat58 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
-?/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown - likely benign g.216498790G>A g.216325448G>A - - USH2A_000025 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP1402 PubMed: Fernandez-San Jose 2015 family, 5 affected - - Spain - - - - - 5 LOVD
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown ACMG pathogenic g.216498790G>A g.216325448G>A USH2A M2: c.1000C>T;p.Arg334Trp - USH2A_000025 heterozygous PubMed: Gonzalez-del Pozo 2020 - rs397517963 Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Gonzalez-del Pozo 2020 father of III:3 M - Spain - - - - - 1 LOVD
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Maternal (confirmed) ACMG pathogenic g.216498790G>A g.216325448G>A USH2A M2: c.1000C>T;p.Arg334Trp - USH2A_000025 heterozygous PubMed: Gonzalez-del Pozo 2020 - rs397517963 Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Gonzalez-del Pozo 2020 proband F - Spain - - - - - 1 LOVD
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown ACMG pathogenic g.216498790G>A g.216325448G>A USH2A M2: c.1000C>T;p.Arg334Trp - USH2A_000025 heterozygous PubMed: Gonzalez-del Pozo 2020 - rs397517963 Germline yes - - - - DNA SEQ blood - retinal disease III:20 PubMed: Gonzalez-del Pozo 2020 daughter of brother of II:1 F - Spain - - - - - 1 LOVD
+?/. - c.1000C>T r.(?) p.(Arg334Trp) - Parent #1 - likely pathogenic g.216498790G>A g.216325448G>A USH2A c.1000C>T, p.R334W - USH2A_000025 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 146 PubMed: Jauregui 2020 - M - (United States) African American - - - - 1 LOVD
+?/. - c.1000C>T r.(?) p.(Arg334Trp) - Parent #1 - likely pathogenic g.216498790G>A g.216325448G>A USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.1000C>T/p.R334W - USH2A_000025 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1192 PubMed: Weisschuh 2020 Filing key number: 885, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. 6 c.1000C>T r.(?) p.(Arg334Trp) - Unknown - VUS g.216498790G>A - c.1000C>T - USH2A_000025 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Khalaileh-2018 - - yes - North African Jew - - - - 1 LOVD
+/. 6 c.1000C>T r.(?) p.(Arg334Trp) - Parent #2 ACMG pathogenic g.216498790G>A g.216325448G>A USH2A c.1000C>T, p.Arg334Trp - USH2A_000025 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 17 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. 6 c.1000C>T r.(?) p.(Arg334Trp) - Both (homozygous) ACMG pathogenic g.216498790G>A g.216325448G>A USH2A c.1000C>T, p.R334W - USH2A_000025 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf36 PubMed: Zhu 2021 family 205, patient USHsrf36 M - China - - - - - 1 LOVD
+/. 6 c.1000C>T r.(?) p.(Arg334Trp) - Parent #2 ACMG pathogenic g.216498790G>A g.216325448G>A USH2A c.1000C>T, p.R334W - USH2A_000025 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1464 PubMed: Zhu 2021 family 40, patient SRF_1464 M - China - - - - - 1 LOVD
+/. 6 c.1000C>T r.(?) p.(Arg334Trp) - Parent #2 ACMG pathogenic g.216498790G>A g.216325448G>A USH2A c.1000C>T, p.R334W - USH2A_000025 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1465 PubMed: Zhu 2021 family 40, patient SRF_1465 F - China - - - - - 1 LOVD
+?/. - c.1000C>T r.(?) p.(Arg334Trp) - Parent #2 - likely pathogenic g.216498790G>A g.216325448G>A USH2A c.1000C>T - USH2A_000025 no protein annotation written; heterozygous PubMed: Charng 2020 - - Germline yes - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 15 PubMed: Charng 2020 - M - Australia - - - - - 1 LOVD
+?/. - c.1000C>T r.(?) p.(Arg334Trp) - Paternal (confirmed) - likely pathogenic g.216498790G>A g.216325448G>A c.1000C>T (R334W) - USH2A_000025 - PubMed: Sajan 2019 - - Germline - - - - - DNA SEQ-NG - trio WES RLSDF Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown ACMG pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-228411 rs397517963 Germline yes - - - - DNA SEQ-NG-I Buccal swab - USH2A 2354937 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+/. - c.1000C>T r.(?) p.(Arg334Trp) - Unknown ACMG pathogenic g.216498790G>A g.216325448G>A - - USH2A_000025 ACMG GN005 criteria: PM2_P PM3_S PP1_S PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Jiang, L. et al., 2015; PubMed: Colombo, L. et al., 2022; PubMed: Ganapathi, M. et al., 2022; PubMed: Khalaileh, A. et al., 2018; PubMed: Weisschuh, N. et al., 2020; PubMed: Eandi, C. M. et al., 2017; PubMed: Jauregui, R. et al., 2020; PubMed: Bravo-Gil, N. et al., 2016; PubMed: Neuhaus, C. et al., 2017 - rs397517963 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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