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.

70 entries on 1 page. Showing entries 1 - 70.
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+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous; UV3 RP PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - 0/878 controls +HpyCH4III - - DNA SEQ - - RPar - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous; likely deleterious PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 2 Anne-Françoise Roux
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous; Pathogenic PubMed: Avila-Fernandez 2010, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA PE, SEQ - APEX RPar - PubMed: Avila-Fernandez 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous; unknown PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Relative - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Relative - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+?/? 51 c.10073G>A r.(?) p.(Cys3358Tyr) Cystein rich (3192-3358) Unknown ACMG VUS g.215963510C>T g.215790168C>T - - USH2A_000131 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs148660051 Germline - - +HpyCH4III - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Relative - - Canada - - - - - 1 Eva Lenassi
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown ACMG likely pathogenic g.215963510C>T - - - USH2A_000131 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - pathogenic (recessive) g.215963510C>T - 1:215963510C>T ENST00000307340.3:c.10073G>A (Cys3358Tyr) - USH2A_000131 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000985 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - pathogenic (recessive) g.215963510C>T - 1:215963510C>T ENST00000307340.3:c.10073G>A (Cys3358Tyr) - USH2A_000131 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001010 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - pathogenic (recessive) g.215963510C>T - 1:215963510C>T ENST00000307340.3:c.10073G>A (Cys3358Tyr) - USH2A_000131 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004713 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - pathogenic (recessive) g.215963510C>T - 1:215963510C>T ENST00000307340.3:c.10073G>A (Cys3358Tyr) - USH2A_000131 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005199 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - pathogenic (recessive) g.215963510C>T - 1:215963510C>T ENST00000307340.3:c.10073G>A (Cys3358Tyr) - USH2A_000131 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001276 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic (recessive) g.215963510C>T - 1:215963510C>T ENST00000307340.3:c.10073G>A (Cys3358Tyr) - USH2A_000131 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005495 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 97 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 327 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 84 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Both (homozygous) - likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12015182 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012581 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease SS+6.62 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp229 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp4 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp86 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T - - - USH2A_000131 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Wang 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Both (homozygous) - pathogenic g.215963510C>T - c.10073G>A - USH2A_000131 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A Ex.50 c.9799T>C p.(Cys3267Arg), Ex.51 c.10073G>A p.(Cys3358Tyr) - USH2A_000131 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0260 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A Ex.51 c.10073G>A p.(Cys3358Tyr), Ex.52 c.10316C>A p.(Ser3439*) - USH2A_000131 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1857 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.51 c.10073G>A p.(Cys3358Tyr) - USH2A_000131 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2290 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Both (homozygous) ACMG likely pathogenic g.215963510C>T g.215790168C>T USH2A:NM_206933 c.G10073A, p.C3358Y - USH2A_000131 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-551 PubMed: Rodriguez-Munoz 2020 family fRPN-226, proband M - Spain - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 099-079 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-171 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-178 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-253 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2866_004451 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2927_004512 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - VUS g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-581 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - VUS g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-570 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.C3358Y - USH2A_000131 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 111 PubMed: Jauregui 2020 - M - (United States) Other - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.C3358Y - USH2A_000131 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 119 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.C3358Y - USH2A_000131 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 107 PubMed: Jauregui 2020 - F - (United States) Hispanic - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.13130C>A/p.S4377* - USH2A_000131 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 846 PubMed: Weisschuh 2020 Filing key number: 348, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.802G>A/p.G268R - USH2A_000131 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1182 PubMed: Weisschuh 2020 Filing key number: 870, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.13898del/p.L4633* - USH2A_000131 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1191 PubMed: Weisschuh 2020 Filing key number: 884, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.1000C>T/p.R334W - USH2A_000131 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1192 PubMed: Weisschuh 2020 Filing key number: 885, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.2299del/p.E767Sfs*21 - USH2A_000131 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1200 PubMed: Weisschuh 2020 Filing key number: 903, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.3722_3729delinsTCA/ p.A1241Vfs*8 - USH2A_000131 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1264 PubMed: Weisschuh 2020 Filing key number: 1065, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000985 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001010 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001276 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G004713 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005199 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.Cys3358Tyr - USH2A_000131 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G012406 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown - likely pathogenic (recessive) g.215963510C>T - c.10073G>A - USH2A_000131 - PubMed: Colombo-2020 - rs148660051 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A, p.(Cys3358Tyr) - USH2A_000131 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) retinal disease 14020775 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A - USH2A_000131 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 21 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A - USH2A_000131 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 23 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A - USH2A_000131 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 36 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Both (homozygous) - likely pathogenic g.215963510C>T g.215790168C>T USH2A c.10073G>A - USH2A_000131 no protein annotation written; homozygous PubMed: Charng 2020 - - Germline yes - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 3 PubMed: Charng 2020 - M - Australia - - - - - 1 LOVD
+/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - pathogenic g.215963510C>T - c.10073G>A - USH2A_000131 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #1 - pathogenic g.215963510C>T - c.10073G>A - USH2A_000131 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - pathogenic g.215963510C>T - c.10073G>A - USH2A_000131 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 51 c.10073G>A r.(?) p.(Cys3358Tyr) - Parent #2 - pathogenic g.215963510C>T - c.10073G>A - USH2A_000131 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.10073G>A r.(?) p.(Cys3358Tyr) - Unknown ACMG likely pathogenic g.215963510C>T g.215790168C>T - - USH2A_000131 ACMG GN005 criteria: PS4_S PP1_M PubMed: Lenassi, E. et al., 2015; PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Ganapathi, M. et al., 2022; PubMed: Rodriguez-Munoz, A. et al., 2020; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021; PubMed: Jauregui, R. et al., 2020 - rs148660051 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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