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.
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     
+?/? 52 c.10342G>A r.(?) p.(Glu3448Lys) Fibronectin type-III 19 (3404-3494) Unknown ACMG VUS g.215960057C>T g.215786715C>T - - USH2A_000426 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+?/? 52 c.10342G>A r.(?) p.(Glu3448Lys) Fibronectin type-III 19 (3404-3494) Unknown ACMG VUS g.215960057C>T g.215786715C>T - - USH2A_000426 Heterozygous; causative PubMed: Eisenberger 2013, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Eisenberger 2013 Proband M - Germany - - - - - 1 Anne-Françoise Roux
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #1 - likely pathogenic g.215960057C>T - - - USH2A_000426 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Both (homozygous) - likely pathogenic (recessive) g.215960057C>T - - - USH2A_000426 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - pathogenic (recessive) g.215960057C>T - 1:215960057C>T ENST00000307340.3:c.10342G>A (Glu3448Lys) - USH2A_000426 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240237 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - likely pathogenic (recessive) g.215960057C>T - 1:215960057C>T ENST00000307340.3:c.10342G>A (Glu3448Lys) - USH2A_000426 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005495 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Both (homozygous) - pathogenic g.215960057C>T g.215786715C>T - - USH2A_000426 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat12 PubMed: Comander 2017 proband, het in unaffected son F - United States - - - - - 1 Johan den Dunnen
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #2 - pathogenic (recessive) g.215960057C>T g.215786715C>T - - USH2A_000426 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM2-8438 PubMed: Jones 2017 6-generation family, 3 affected (3F) F - United States - - - - - 4 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - likely pathogenic g.215960057C>T g.215786715C>T - - USH2A_000426 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 105 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #1 - pathogenic g.215960057C>T g.215786715C>T - - USH2A_000426 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 27978 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #2 - pathogenic g.215960057C>T g.215786715C>T - - USH2A_000426 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease RC+V.27 PubMed: Ge 2015 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 LOVD
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #1 - pathogenic (recessive) g.215960057C>T g.215786715C>T - - USH2A_000426 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-546-1114 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - likely pathogenic g.215960057C>T g.215786715C>T USH2A;NM_206933.2;c.[6670G>T];[10342G>A];p.[(Gly2224Cys)];[(Glu3448Lys)] - USH2A_000426 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 105 genes panel retinal disease 69 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 52 c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - pathogenic g.215960057C>T - c.10342G>A - USH2A_000426 previously reported to be heterozygous in a single affected individual and absent in 80 controls. categorized as a rare polymorphism PubMed: Maranhao 2014 - - Germline yes - - - - DNA SEQ-NG, arraySNP blood - retinal disease - PubMed: Maranhao-2014 two additional affected brothers of the proband were reported to have been diagnosed with retinitis pigmentosa - no - European ancestry - - - - 3 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - likely pathogenic g.215960057C>T g.215786715C>T USH2A c.10342G>A, p.Glu3448Lys - USH2A_000426 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI640_001306 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - likely pathogenic g.215960057C>T g.215786715C>T c.10342G>A, p.Glu3448Lys - USH2A_000426 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 039-207 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #2 - likely pathogenic g.215960057C>T g.215786715C>T USH2A c.10342G>A, p.E3448K - USH2A_000426 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 128 PubMed: Jauregui 2020 - M - (United States) Other - - - - 1 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Both (homozygous) - likely pathogenic g.215960057C>T g.215786715C>T USH2A c.10342G>A, p.(Glu3448Lys) - USH2A_000426 homozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) retinal disease 15008804 PubMed: Molina-Ramirez 2020 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #1 - likely pathogenic g.215960057C>T g.215786715C>T USH2A c.10342G>A, p.(Glu3448Lys) - USH2A_000426 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) retinal disease 70378 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Parent #1 - pathogenic g.215960057C>T g.215786715C>T USH2A c.10342G>A, p.Glu3448Lys - USH2A_000426 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD19033252 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+?/. 52 c.10342G>A r.(?) p.(Glu3448Lys) - Parent #1 ACMG likely pathogenic g.215960057C>T g.215786715C>T USH2A c.10342G>A, p.E3448K - USH2A_000426 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1804 PubMed: Zhu 2021 family 62, patient SRF_1804 F - China - - - - - 1 LOVD
+?/. 52 c.10342G>A r.(?) p.(Glu3448Lys) - Parent #2 - likely pathogenic g.215960057C>T - c.10342G>A - USH2A_000426 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - pathogenic g.215960057C>T - - - USH2A_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown ACMG VUS g.215960057C>T g.215786715C>T - - USH2A_000426 ACMG GN005 criteria: PM2_P PM3_M PubMed: Gao, F. J. et al., 2021; PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Ganapathi, M. et al., 2022 - rs368049814 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown ACMG likely pathogenic (recessive) g.215960057C>T g.215786715C>T - - USH2A_000426 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 209203 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-670 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.10342G>A r.(?) p.(Glu3448Lys) - Unknown - likely pathogenic g.215960057C>T g.215786715C>T - - USH2A_000426 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
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.