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.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Owner     
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Unknown ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #1 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Yan 2009, USMA missense analysis, missense variant in MSV3d - - Germline - - +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH2 - PubMed: Yan 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Maternal (confirmed) ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Unknown ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #2 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/306 controls +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH3 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #1 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous; UV3 PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - - Germline - - +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Paternal (confirmed) ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +BsrDI;+BstXI;-BceAI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #2 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 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
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #1 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #2 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #2 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #2 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+?/? 6 c.908G>A r.(?) p.(Arg303His) Laminin N-terminal (271-517) Parent #1 ACMG VUS g.216498882C>T g.216325540C>T - - USH2A_000231 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
?/. - c.908G>A r.(?) p.(Arg303His) - Unknown - VUS g.216498882C>T g.216325540C>T - - USH2A_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #1 - likely pathogenic (recessive) g.216498882C>T g.216325540C>T - - USH2A_000231 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam12PatTO15 PubMed: Eandi 2017 - F - Italy - - - - - 1 LOVD
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #2 - likely pathogenic (recessive) g.216498882C>T g.216325540C>T - - USH2A_000231 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam16PatTO20 PubMed: Eandi 2017 - F - Italy - - - - - 1 LOVD
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #1 - likely pathogenic g.216498882C>T g.216325540C>T - - USH2A_000231 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat108 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #2 - likely pathogenic g.216498882C>T g.216325540C>T - - USH2A_000231 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat36 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #2 - likely pathogenic g.216498882C>T g.216325540C>T - - USH2A_000231 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat66 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.908G>A r.(?) p.(Arg303His) - Parent #2 - pathogenic g.216498882C>T g.216325540C>T R303H - USH2A_000231 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-0184PatVI10 PubMed: Sanchez-Alcudia 2014 - F - Spain - - - - - 1 LOVD
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #1 - likely pathogenic g.216498882C>T g.216325540C>T USH2A, variant 1: c.908G>A/p.R303H, variant 2: c.3221G>A/p.W1074* - USH2A_000231 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 757 PubMed: Weisschuh 2020 Filing key number: 292, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.908G>A r.(?) p.(Arg303His) - Parent #1 - likely pathogenic g.216498882C>T g.216325540C>T USH2A, variant 1: c.908G>A/p.R303H, variant 2: c.2296T>C/p.C766R - USH2A_000231 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1190 PubMed: Weisschuh 2020 Filing key number: 880, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 6 c.908G>A r.(?) p.(Arg303His) - Unknown - pathogenic (recessive) g.216498882C>T - c.908G>A - USH2A_000231 - PubMed: Colombo-2020 - rs371777049 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 6 c.908G>A r.(?) p.(Arg303His) - Unknown - pathogenic g.216498882C>T - c.908G>A - USH2A_000231 - PubMed: Colombo-2020 - rs371777049 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. - c.908G>A r.(?) p.(Arg303His) - Parent #2 - pathogenic g.216498882C>T g.216325540C>T USH2A c.908G>A, p.(Arg303His) - USH2A_000231 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 20 PubMed: Falsini 2021 - M - Italy - - - - - 1 LOVD
+?/. - c.908G>A r.(?) p.(Arg303His) - Unknown ACMG likely pathogenic g.216498882C>T g.216325540C>T - - USH2A_000231 ACMG GN005 criteria: PM2_P PM3_VS PubMed: Falsini, B. et al., 2021; PubMed: Fakin, A. et al., 2019; PubMed: Bonnet, C. et al., 2016; PubMed: Yan, D. et al., 2009; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Colombo, L. et al., 2022; PubMed: Kamenarova, K. et al., 2022; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2022; PubMed: Colombo, L. et al., 2021; PubMed: Eandi, C. M. et al., 2017 - rs371777049 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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