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.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Owner     
-?/. - c.688G>A r.(?) p.(Val230Met) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/? 4 c.688G>A r.(?) p.(Val230Met) - Unknown 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; - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 4 c.688G>A r.(?) p.(Val230Met) - Parent #2 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; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - Unknown ACMG likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 Heterozygous USMA missense analysis, missense variant in MSV3d - rs45500891 Germline - - +FatI;+NlaIII;+CviAII; - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - Parent #1 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; - - DNA SEQ - - USH2 - PubMed: Leroy 2001 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - Unknown 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; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/? 4 c.688G>A r.(?) p.(Val230Met) - Paternal (inferred) 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; - - DNA SEQ - - ? - PubMed: Baux 2014 Proband F - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - Maternal (inferred) 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; - - DNA SEQ - - ? - PubMed: Baux 2014 Proband F - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-/? 4 c.688G>A r.(?) p.(Val230Met) - Unknown 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; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 4 c.688G>A r.(?) p.(Val230Met) - Unknown 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; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
?/. - c.688G>A r.(?) p.(Val230Met) - Unknown - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs45500891 Germline - 11/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 11 Yoshito Koyanagi
?/. - c.688G>A r.(?) p.(Val230Met) - Both (homozygous) - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs45500891 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-/. - c.688G>A r.(?) p.(Val230Met) - Parent #1 - benign g.216538391C>T g.216365049C>T - - USH2A_000014 111 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45500891 Germline - 111/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 111 Mohammed Faruq
-/. - c.688G>A r.(?) p.(Val230Met) - Both (homozygous) - benign g.216538391C>T g.216365049C>T - - USH2A_000014 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45500891 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. - c.688G>A r.(?) p.(Val230Met) - Parent #1 - likely pathogenic g.216538391C>T - - - USH2A_000014 - PubMed: Holtan 2020 - - Germline - 4/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 4 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 4 Global Variome, with Curator vacancy
?/. - c.688G>A r.(?) p.(Val230Met) - Unknown - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam12PatTO15 PubMed: Eandi 2017 - F - Italy - - - - - 1 LOVD
?/. - c.688G>A r.(?) p.(Val230Met) - Unknown - VUS g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Wang 2014 - rs45500891 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 23 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
-?/. - c.688G>A r.(?) p.(Val230Met) - Unknown - likely benign g.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Eisenberger 2018 - rs45500891 Germline - - - - - DNA SEQ-NG-I - - DFNA FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - 8 Hanno Bolz
-/. - c.688G>A r.(?) p.(Val230Met) - Unknown - benign g.216538391C>T - USH2A(NM_206933.2):c.688G>A (p.V230M) - USH2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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