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.

61 entries on 1 page. Showing entries 1 - 61.
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+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: de Castro-Miró 2014 - - Germline - - - - - DNA SEQ-NG-I Whole blood - USH2A - PubMed: de Castro-Miró 2014 - M no Spain - - - - - 1 Marta de Castro-Miró
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - 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
+?/. 50 c.9799T>C r.9799T>C p.Cys3267Arg - Unknown - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - - - rs111033263 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#18 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/. 50 c.9799T>C r.9799T>C p.Cys3267Arg - Unknown - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - - - rs111033263 Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_##39 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Paternal (inferred) ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Maternal (inferred) ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Aller 2006 Relative F - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ, SSCA - - USH - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Unknown ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Maternal (confirmed) ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Unknown ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; likely deleterious PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; Pathogenic PubMed: Avila-Fernandez 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA PE, SEQ - APEX RPar - PubMed: Avila-Fernandez 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; Pathogenic PubMed: Avila-Fernandez 2010, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA PE, SEQ - APEX RPar - PubMed: Avila-Fernandez 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Unknown ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; UV4 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - 0/96 controls +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - ? - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; mutation PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA PE, SEQ - APEX USH2 - PubMed: de Castro-Miro 2014 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; mutation PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA PE, SEQ - APEX RPar - PubMed: de Castro-Miro 2014 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Unknown ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous PubMed: Aparisi 2014, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - +FauI;+MspA1I;+AciI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #2 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/? 50 c.9799T>C r.(?) p.(Cys3267Arg) Cystein rich (3192-3358) Parent #1 ACMG likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033263 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs111033263 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.9799T>C r.(?) p.(Cys3267Arg) - Parent #1 - pathogenic (recessive) g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1746t PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.9799T>C r.(?) p.(Cys3267Arg) - Parent #2 - pathogenic (recessive) g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2032 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Both (homozygous) - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/38 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown ACMG pathogenic (recessive) g.215972408A>G g.215799066A>G c.T9799C - USH2A_000176 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM081 PubMed: Zhang 2016 simplex case M - United States Hispanic - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Parent #2 - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP-1695 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Both (homozygous) - pathogenic g.215972408A>G - c.9799T>C - USH2A_000176 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Both (homozygous) - pathogenic g.215972408A>G - c.9799T>C - USH2A_000176 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Maternal (confirmed) - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-0752 PubMed: Perez-Carro 2018 family RP-0752 M no Spain - - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-2156 PubMed: Perez-Carro 2018 family RP-2156 M yes Spain - - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Paternal (confirmed) - likely pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease RP-2494 PubMed: Perez-Carro 2018 family RP-2494 F no Spain - - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown ACMG likely pathogenic g.215972408A>G g.215799066A>G USH2A c.2276G>T, p.(Cys759Phe), c.9799T>C, p.(Cys3267Arg), EYS c.8648_8655del, p.(Thr2883Lysfs*4) - USH2A_000176 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 293 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G M14: c.9799T > C; p.Cys3267Arg - USH2A_000176 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood solved retinal disease I (II:2) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G M14: c.9799T > C; p.Cys3267Arg - USH2A_000176 - PubMed: Gonzalez del Pozo 2018 - - Germline ? - - - - DNA SEQ-NG blood solved retinal disease L (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G USH2A Ex.50 c.9799T>C p.(Cys3267Arg), Ex.51 c.10073G>A p.(Cys3358Tyr) - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0260 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*), USH2A: p.(Cys3267Arg) Ex.50 c.9799T>C - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-0435 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.50 c.9799T>C p.(Cys3267Arg) - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1695 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.50 c.9799T>C p.(Cys3267Arg) - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1909 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.50 c.9799T>C p.(Cys3267Arg) - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2156 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.50 c.9799T>C p.(Cys3267Arg) - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2494 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G g.215799066A>G USH2A Ex.12 c.2081G>A p.(Cys694Tyr), Ex.50 c.9799T>C p.(Cys3267Arg), ABCA4: Ex.13 c.1928T>Gp.(Val643Gly) - USH2A_000176 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2704 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G - c.9799T>C - USH2A_000176 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA PE - - retinal disease 5ORG PubMed: de Castro-Miró-2014 - - - - - - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G - c.9799T>C - USH2A_000176 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 25NCE PubMed: de Castro-Miró-2014 - - - - - - - - - 2 LOVD
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown ACMG likely pathogenic g.215972408A>G - - - USH2A_000176 - PubMed: Mansard et al, 2021 - rs111033263 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown ACMG likely pathogenic g.215972408A>G - - - USH2A_000176 - PubMed: Mansard et al, 2021 - rs111033263 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.9799T>C r.(?) p.(Cys3267Arg) - Both (homozygous) ACMG likely pathogenic g.215972408A>G - - - USH2A_000176 - PubMed: Mansard et al, 2021 - rs111033263 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - likely pathogenic g.215972408A>G - p.C3267R - USH2A_000176 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Unknown - pathogenic (recessive) g.215972408A>G - c.9799T>C:p.C3267R - USH2A_000176 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+?/. 50 c.9799T>C r.(?) p.(Cys3267Arg) - Parent #1 - likely pathogenic g.215972408A>G - c.9799T>C - USH2A_000176 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown ACMG pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-48634 rs111033263 Germline yes - - - - DNA SEQ-NG-I - - USH2A 2466669 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.9799T>C r.(?) p.(Cys3267Arg) - Unknown ACMG pathogenic g.215972408A>G g.215799066A>G - - USH2A_000176 ACMG GN005 criteria: PM2_P PM3_VS PP3_P PubMed: Gonzalez-Del Pozo, M. et al., 2018; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Perez-Carro, R. et al., 2018; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Mansard, L. et al., 2021; PubMed: Aparisi, M. J. et al., 2014 - rs111033263 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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