All variants in the USH2A gene


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.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-?/. - c.688G>A r.(?) p.(Val230Met) - - likely benign g.216538391C>T g.216365049C>T USH2A(NM_206933.2):c.688G>A (p.V230M) - USH2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - 2/96 controls +FatI;+NlaIII;+CviAII; 0 - Maria Bitner-Glindzicz
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous PubMed: Leroy 2001, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - 0/100 controls +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Jose Maria Millan
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous; Predicted benign PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
-/- 4 c.688G>A r.(?) p.(Val230Met) - ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; 0 - Anne-Françoise Roux
?/. - c.688G>A r.(?) p.(Val230Met) - - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs45500891 Germline - 11/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.688G>A r.(?) p.(Val230Met) - - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs45500891 Germline - 2/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
-/. - c.688G>A r.(?) p.(Val230Met) - - benign g.216538391C>T g.216365049C>T - - USH2A_000014 111 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45500891 Germline - 111/2795 individuals - 0 - Mohammed Faruq
-/. - c.688G>A r.(?) p.(Val230Met) - - benign g.216538391C>T g.216365049C>T - - USH2A_000014 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45500891 Germline - 4/2795 individuals - 0 - Mohammed Faruq
+?/. - c.688G>A r.(?) p.(Val230Met) - - likely pathogenic g.216538391C>T - - - USH2A_000014 - PubMed: Holtan 2020 - - Germline - 4/899 cases - 0 - Global Variome, with Curator vacancy
?/. - c.688G>A r.(?) p.(Val230Met) - - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Eandi 2017 - - Germline yes - - 0 - -
?/. - c.688G>A r.(?) p.(Val230Met) - - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Wang 2014 - rs45500891 Germline - - - 0 - -
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