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.

40 entries on 1 page. Showing entries 1 - 40.
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     
+?/. 8 c.1434G>C r.(?) p.(Glu478Asp) - Maternal (confirmed) - likely pathogenic g.216496932C>G g.216323590C>G - - USH2A_000222 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - F no Spain - - - - - 1 Marta de Castro-Miró
-/. - c.1434G>C r.(?) p.(Glu478Asp) - Unknown - benign g.216496932C>G g.216323590C>G USH2A(NM_206933.2):c.1434G>C (p.E478D) - USH2A_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1434G>C r.(?) p.(Glu478Asp) - Unknown - benign g.216496932C>G g.216323590C>G USH2A(NM_206933.2):c.1434G>C (p.E478D) - USH2A_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #1 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; unknown PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - 14/854 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - 14/854 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Uncertain pathogenicity PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Uncertain pathogenicity PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Uncertain pathogenicity PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Uncertain pathogenicity PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Uncertain pathogenicity PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; Uncertain pathogenicity PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - RPar - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (confirmed) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #1 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #2 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (confirmed) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Paternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Paternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Paternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous; unknown -segregates with the disease PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous; unknown -segregates with the disease PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (confirmed) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; potential PubMed: Vastinsalo 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - 0.5% (150 controls) none - - DNA PE, SEQ - APEX USH2 - PubMed: Vastinsalo 2012 Proband M - Finland - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Unknown - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; potential PubMed: Vastinsalo 2012, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - 0.5% (150 controls) none - - DNA PE, SEQ - APEX USH2 - PubMed: Vastinsalo 2012 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Paternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Maternal (inferred) - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #1 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; mutation PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Proband M - Spain - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #1 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; mutation PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Relative F - Spain - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #1 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous; mutation PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA PE, SEQ - APEX USH2 - PubMed: de Castro-Miro 2014 Relative F - Spain - - - - - 1 Anne-Françoise Roux
-/- 8 c.1434G>C r.(?) p.(Glu478Asp) Laminin N-terminal (271-517) Parent #1 - benign g.216496932C>G g.216323590C>G - - USH2A_000222 Heterozygous PubMed: Sodi 2014, USMA missense analysis, missense variant in MSV3d - rs35730265 Germline - - none - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
?/. - c.1434G>C r.(?) p.(Glu478Asp) - Unknown - VUS g.216496932C>G g.216323590C>G - - USH2A_000222 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs35730265 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.1434G>C r.(?) p.(Glu478Asp) - Parent #1 - likely pathogenic g.216496932C>G - - - USH2A_000222 - PubMed: Holtan 2020 - - Germline - 9/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 9 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 9 Global Variome, with Curator vacancy
+/. - c.1434G>C r.(?) p.(Glu478Asp) - Parent #1 ACMG pathogenic (recessive) g.216496932C>G g.216323590C>G - - USH2A_000222 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19512 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
?/. - c.1434G>C r.(?) p.(Glu478Asp) - Parent #2 - VUS g.216496932C>G g.216323590C>G - - USH2A_000222 - PubMed: Bryant 2018 - rs35730265 Germline - - - - - DNA SEQ-NG - WES retinal disease JB40 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. 8 c.1434G>C r.(?) p.(Glu478Asp) - Unknown - likely pathogenic g.216496932C>G - c.1434G>C - USH2A_000222 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 21NCE PubMed: de Castro-Miró-2014 - - - - - - - - - 1 LOVD
+?/. 8 c.1434G>C r.(?) p.(Glu478Asp) - Unknown - likely pathogenic g.216496932C>G - c.1434G>C - USH2A_000222 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
-/. - c.1434G>C r.(?) p.(Glu478Asp) - Unknown ACMG benign g.216496932C>G g.216323590C>G - - USH2A_000222 ACMG GN005 criteria: BA1 BS2_S BP4_P PubMed: Colombo, L. et al., 2022 - rs35730265 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.