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.

17 entries on 1 page. Showing entries 1 - 17.
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AscendingDNA change (cDNA)     

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?/. 12 c.2137G>C r.(?) p.(Gly713Arg) - Unknown - VUS g.216424275C>G g.216250933C>G - - USH2A_000021 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 12 c.2137G>C r.(?) p.(Gly713Arg) - Unknown - VUS g.216424275C>G g.216250933C>G - - USH2A_000021 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Licastro 2012, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Licastro 2012 Proband - - Italy - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Parent #2 ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Denmark - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Parent #2 ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA minigene, SEQ - - USH-2 - PubMed: Aller 2006 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - 2/200 controls +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Najera 2002 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Parent #1 ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA minigene, SEQ - - USH-2 - - Proband M - France - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous; Uncertain pathogenicity (non-pathogenic) PubMed: Dreyer 2008, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - <1/100 controls +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2008 Proband - No genotype in the publication - The number of alleles is not mentioned - - Denmark - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Paternal (inferred) ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Homozygous; Mutation PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA PE, SEQ - APEX USH-2 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - 1 Anne-Françoise Roux
-?/? 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Maternal (inferred) ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Homozygous; Mutation PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA PE, SEQ - APEX USH-2 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 12 c.2137G>C r.(?) p.(Gly713Arg) Laminin EGF-like 4 (694-746) Unknown ACMG likely benign g.216424275C>G g.216250933C>G - - USH2A_000021 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs696723 Germline - - +MslI;+AleI;-HaeIII; 0 - DNA SEQ - - USH-3 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
+?/. - c.2137G>C r.(?) p.(Gly713Arg) - Parent #1 - likely pathogenic g.216424275C>G - - - USH2A_000021 - PubMed: Holtan 2020 - - Germline - 5/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 5 patients with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 5 Global Variome, with Curator vacancy
?/. - c.2137G>C r.(?) p.(Gly713Arg) - Unknown - VUS g.216424275C>G g.216250933C>G - - USH2A_000021 - PubMed: Bryant 2018 - rs696723 Germline - - - 0 - DNA SEQ-NG - WES retinal disease JB32 PubMed: Bryant 2018 - - - United States - - 0 - - 1 -
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