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.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - pathogenic g.215847979G>A g.215674637G>A USH2A(NM_206933.2):c.13274C>T (p.T4425M), USH2A(NM_206933.4):c.13274C>T (p.T4425M) - USH2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - likely pathogenic g.215847979G>A g.215674637G>A USH2A(NM_206933.2):c.13274C>T (p.T4425M), USH2A(NM_206933.4):c.13274C>T (p.T4425M) - USH2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous; unknwon PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAII;-BsgI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #1 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAII;-BsgI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous PubMed: Van Wijk 2004, USMA missense analysis, missense variant in MSV3d - - Germline - 0/188 controls +FatI;+NlaIII;+CviAII;-BsgI; - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous; unknown PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAII;-BsgI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Unknown ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAII;-BsgI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #1 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Homozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+?/? 63 c.13274C>T r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) Parent #1 ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Homozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
?/. - c.13274C>T r.(?) p.(Thr4425Met) - Parent #1 - VUS g.215847979G>A g.215674637G>A - - USH2A_000049 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201238640 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - pathogenic (recessive) g.215847979G>A - 1:215847979G>A ENST00000307340.3:c.13274C>T (Thr4425Met) - USH2A_000049 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240076 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - pathogenic (recessive) g.215847979G>A - 1:215847979G>A ENST00000307340.3:c.13274C>T (Thr4425Met) - USH2A_000049 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000333 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - likely pathogenic g.215847979G>A - USH2A(NM_206933.2):c.13274C>T (p.T4425M), USH2A(NM_206933.4):c.13274C>T (p.T4425M) - USH2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 63 c.13274C>T r.(13274c>u) p.(Thr4425Met) - Parent #2 ACMG likely pathogenic g.215847979G>A g.215674637G>A - - USH2A_000049 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0114 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - likely pathogenic g.215847979G>A g.215674637G>A c.13274C>T p.(Thr44251Met), c.8981G>A p.(Trp2994*) - USH2A_000049 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 040 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - likely pathogenic g.215847979G>A - - - USH2A_000049 - - - rs201238640 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Parent #2 - likely pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T, p.T4425M - USH2A_000049 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 135 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Both (homozygous) ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Paternal (confirmed) ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Paternal (confirmed) ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown ACMG likely pathogenic g.215847979G>A - - - USH2A_000049 - PubMed: Mansard et al, 2021 - rs201238640 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown - likely pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T, p.Thr4425Met - USH2A_000049 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000333 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 63 c.13274C>T r.(?) p.(Thr4425Met) - Unknown - likely pathogenic g.215847979G>A - c.13274C>T - USH2A_000049 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Parent #1 - likely pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T - USH2A_000049 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 28 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Parent #2 - likely pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T - USH2A_000049 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 18 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.13274C>T r.(?) p.(Thr4425Met) - Parent #1 - pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T, p.Thr4425Met - USH2A_000049 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DP1908968-1 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 63 c.13274C>T r.(?) p.(Thr4425Met) - Parent #1 ACMG pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T, p.T4425M - USH2A_000049 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_14 PubMed: Zhu 2021 family 47, patient AXLM_14 M - China - - - - - 1 LOVD
+/. 63 c.13274C>T r.(?) p.(Thr4425Met) - Parent #1 ACMG pathogenic g.215847979G>A g.215674637G>A USH2A c.C13274T, p.T4425M - USH2A_000049 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1363 PubMed: Zhu 2021 family 137, patient SRF1363 F - China - - - - - 1 LOVD
+?/. - c.13274C>T r.(?) p.(Thr4425Met) - Parent #2 ACMG likely pathogenic g.215847979G>A g.215674637G>A USH2A c.13274C>T, p.(Thr4425Met) - USH2A_000049 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0114 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
?/. - c.13274C>T r.(?) p.(Thr4425Met) - Unknown ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 ACMG GN005 criteria: PM2_P PM3_M S PubMed: Gao, F. J. et al., 2021; PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Ganapathi, M. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Jauregui, R. et al., 2020 - rs201238640 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.