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.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

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AscendingDNA change (cDNA)     

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+?/? 66 c.14453C>T r.(?) p.(Pro4818Leu) Fibronectin type-III 33 (4732-4825) Parent #2 ACMG VUS g.215821999G>A g.215648657G>A - - USH2A_000171 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
+?/? 66 c.14453C>T r.(?) p.(Pro4818Leu) Fibronectin type-III 33 (4732-4825) Parent #2 ACMG VUS g.215821999G>A g.215648657G>A - - USH2A_000171 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+?/? 66 c.14453C>T r.(?) p.(Pro4818Leu) Fibronectin type-III 33 (4732-4825) Unknown ACMG VUS g.215821999G>A g.215648657G>A - - USH2A_000171 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+?/? 66 c.14453C>T r.(?) p.(Pro4818Leu) Fibronectin type-III 33 (4732-4825) Unknown ACMG VUS g.215821999G>A g.215648657G>A - - USH2A_000171 Heterozygous; possibly deleterious 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
+?/. - c.14453C>T r.(?) p.(Pro4818Leu) - Parent #1 - likely pathogenic g.215821999G>A - - - USH2A_000171 - 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.14453C>T r.(?) p.(Pro4818Leu) - Parent #1 - pathogenic g.215821999G>A g.215648657G>A - - USH2A_000171 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp107 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+?/. - c.14453C>T r.(?) p.(Pro4818Leu) - Unknown - likely pathogenic g.88519100A>G g.88125323A>G c.1112T>C; p.Val371Ala - USH2A_000171 Ocular disease gene; heterozygous variant PubMed: Wan 2018 - - Unknown ? - - - - DNA SEQ-NG-I blood Whole-exome sequencing retinal disease R0014 PubMed: Wan 2018 - ? - China Han Chinese - - - - 1 LOVD
+?/. - c.14453C>T r.(?) p.(Pro4818Leu) - Parent #2 - likely pathogenic g.215821999G>A g.215648657G>A USH2A c.14453C>T, p.P4818L - USH2A_000171 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 106 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
?/. - c.14453C>T r.(?) p.(Pro4818Leu) - Unknown ACMG VUS g.215821999G>A g.215648657G>A - - USH2A_000171 ACMG GN005 criteria: PubMed: Huang, L. et al., 2018; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Aller, E. et al., 2006; PubMed: Ganapathi, M. et al., 2022; PubMed: Jauregui, R. et al., 2020 - rs143344549 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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