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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+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Nakanishi 2009, USMA missense analysis, missense variant in MSV3d - - Germline - 0/270 controls +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Nakanishi 2009 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Paternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative F - Italy - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Paternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/306 controls +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Unknown ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Portugal - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Paternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous; Pathogenic PubMed: Lenarduzzi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous; Pathogenic PubMed: Lenarduzzi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous; mutation PubMed: Qu 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Qu 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Qu 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Qu 2014 Relative M - China - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (confirmed) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Qu 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAI;-HpyCH4III; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Qu 2014 Relative F - China - - - - - 1 Anne-Françoise Roux
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #1 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Paternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Paternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Maternal (inferred) ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Homozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3499-3585) Parent #2 ACMG VUS g.215955412G>A g.215782070G>A - - USH2A_000115 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Italy - - - - - 1 Crystel Bonnet
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - likely pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs202175091 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - pathogenic (recessive) g.215955412G>A g.215782070G>A - - USH2A_000115 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease Fam13P17 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - 1 Sandro Banfi
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - pathogenic (recessive) g.215955412G>A g.215782070G>A - - USH2A_000115 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1979 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Both (homozygous) - likely pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat114 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 356 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Asper retinal disease Pat3 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+?/. 54 c.10712C>T r.(10712c>u) p.(Thr3571Met) - Parent #2 ACMG likely pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 - Journal: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease W19-0864 Journal: Reurink 2021 - - - Poland - - - - - 1 Janine Reurink
+?/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Unknown - likely pathogenic g.215955412G>A g.215782070G>A USH2A Ex.54 c.10712C>T p.(Thr3571Met), Ex.63 c.13531G>A p.(Ala4511Thr) - USH2A_000115 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-0973 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Unknown - likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.Thr3571Met - USH2A_000115 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2944_004529 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.T3571M - USH2A_000115 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 147 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.T3571M - USH2A_000115 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 150 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Unknown ACMG likely pathogenic g.215955412G>A - - - USH2A_000115 - PubMed: Mansard et al, 2021 - rs202175091 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Both (homozygous) ACMG likely pathogenic g.215955412G>A - - - USH2A_000115 - PubMed: Mansard et al, 2021 - rs202175091 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Unknown ACMG likely pathogenic g.215955412G>A - - - USH2A_000115 - PubMed: Mansard et al, 2021 - rs202175091 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - likely pathogenic g.215955412G>A g.215782070G>A USH2A, variant 1: c.10712C>T/p.T3571M, variant 2: c.12525G>A/p.W4175* - USH2A_000115 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 248 PubMed: Weisschuh 2020 Filing key number: 84, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - likely pathogenic g.215955412G>A g.215782070G>A USH2A, variant 1: c.10712C>T/p.T3571M, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000115 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 837 PubMed: Weisschuh 2020 Filing key number: 344, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 - likely pathogenic g.215955412G>A g.215782070G>A USH2A, variant 1: c.1876C>T/p.R626*, variant 2: c.10712C>T/p.T3571M - USH2A_000115 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 851 PubMed: Weisschuh 2020 Filing key number: 351, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Unknown - likely pathogenic (recessive) g.215955412G>A - c.10712C>T - USH2A_000115 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Unknown - pathogenic g.215955412G>A - c.10712C>T - USH2A_000115 - PubMed: Colombo-2020 - rs202175091 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Unknown - likely pathogenic g.215955412G>A - p.T3571M - USH2A_000115 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 ACMG pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.Thr3571Met - USH2A_000115 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 14 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 ACMG pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.Thr3571Met - USH2A_000115 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 56 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 ACMG pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.Thr3571Met - USH2A_000115 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 33 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.Thr3571Met - USH2A_000115 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18040300 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+?/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 ACMG likely pathogenic g.215955412G>A g.215782070G>A USH2A c.C10712T, p.T3571M - USH2A_000115 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1332 PubMed: Zhu 2021 family 187, patient SRF1332 M - China - - - - - 1 LOVD
+?/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 ACMG likely pathogenic g.215955412G>A g.215782070G>A USH2A c.C10712T, p.T3571M - USH2A_000115 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1333 PubMed: Zhu 2021 family 187, patient SRF1333 F - China - - - - - 1 LOVD
+?/. 54 c.10712C>T r.(?) p.(Thr3571Met) - Parent #1 ACMG likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.T3571M - USH2A_000115 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 43637867 PubMed: Zhu 2021 family 14, patient 43637867 M - China - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.(Thr3571Met) - USH2A_000115 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.(Thr3571Met) - USH2A_000115 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.(Thr3571Met) - USH2A_000115 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 4 PubMed: Falsini 2021 - M - Italy - - - - - 1 LOVD
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.(Thr3571Met) - USH2A_000115 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 5 PubMed: Falsini 2021 - M - Italy - - - - - 1 LOVD
+/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 - pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.(Thr3571Met) - USH2A_000115 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 13 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Parent #2 ACMG likely pathogenic g.215955412G>A g.215782070G>A USH2A c.10712C>T, p.(Thr3571Met) - USH2A_000115 heterozygous PubMed: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0864 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+?/+? 54 c.10712C>T r.(?) p.(Thr3571Met) Fibronectin type-III 20 (3501 - 3589) Unknown ACMG likely pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 PM2_Sup PM3_St PP1_M PP4_Sup following GN005 - ClinVar-48355 rs202175091 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 54 c.10712C>T r.(10712c>u) p.(Thr3571Met) - Parent #1 ACMG likely pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP22 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+?/. - c.10712C>T r.(?) p.(Thr3571Met) - Unknown ACMG likely pathogenic g.215955412G>A g.215782070G>A - - USH2A_000115 ACMG GN005 criteria: PM2_P PM3_VS PubMed: Gao, F. J. et al., 2021; PubMed: Falsini, B. et al., 2021; PubMed: Reurink, J. et al., 2021; PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Aller, E. et al., 2006; PubMed: Colombo, L. et al., 2022; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021; PubMed: Karali, M. et al., 2019; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021; PubMed: Jauregui, R. et al., 2020; PubMed: Inaba, A. et al., 2020; PubMed: Bravo-Gil, N. et al., 2016; PubMed: Bravo-Gil, N. et al., 2017 - rs202175091 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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