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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

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AscendingDNA change (cDNA)     

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+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Unknown - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Paternal (inferred) - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Homozygous; mutation PubMed: Krawitz 2014 - - Germline - - - - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Maternal (inferred) - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Homozygous; mutation PubMed: Krawitz 2014 - - Germline - - - - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Paternal (inferred) - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Maternal (inferred) - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Paternal (inferred) - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Maternal (inferred) - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 57 c.11105G>A r.(?) p.(Trp3702*) Fibronectin type-III 22 (3677-3767) Parent #2 - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #2 - pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease U92+K.87 PubMed: Ge 2015 family - - United States - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Unknown - likely pathogenic g.215933128C>T g.215759786C>T USH2A c.11105G>A, p.Trp3702Ter - USH2A_000772 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-416 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.11105G>A/p.W3702*, variant 2: c.11105G>A/p.W3702* - USH2A_000772 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 533 PubMed: Weisschuh 2020 Filing key number: 181, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.11105G>A/p.W3702*, variant 2: c.11105G>A/p.W3702* - USH2A_000772 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 534 PubMed: Weisschuh 2020 Filing key number: 181, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.11105G>A/p.W3702*, variant 2: c.920_923dup/p.H308Qfs*16 - USH2A_000772 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 796 PubMed: Weisschuh 2020 Filing key number: 314, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.9270C>A/p.C3090*, variant 2: c.11105G>A/p.W3702* - USH2A_000772 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 456 PubMed: Weisschuh 2020 Filing key number: 147, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.8559-2A>G/p.?, variant 2: c.11105G>A/p.W3702* - USH2A_000772 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 671 PubMed: Weisschuh 2020 Filing key number: 239, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.11105G>A/p.W3702* - USH2A_000772 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 675 PubMed: Weisschuh 2020 Filing key number: 243, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.11105G>A r.(?) p.(Trp3702*) - Parent #1 - likely pathogenic g.215933128C>T g.215759786C>T USH2A, variant 1: c.2299del/p.E767Sfs*21, variant 2: c.11105G>A/p.W3702* - USH2A_000772 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 705 PubMed: Weisschuh 2020 Filing key number: 261, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 57 c.11105G>A r.(11105g>a) p.(Trp3702Ter) - Parent #1 ACMG pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP24 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.11105G>A r.(?) p.(Trp3702Ter) - Unknown ACMG pathogenic g.215933128C>T g.215759786C>T - - USH2A_000772 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_P PubMed: Bonnet, C. et al., 2016; PubMed: Glockle, N. et al., 2014; PubMed: Weisschuh, N. et al., 2020 - rs1057519193 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.11105G>A r.(?) p.(Trp3702Ter) - Unknown ACMG pathogenic (recessive) g.215933128C>T g.215759786C>T - - USH2A_000772 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 374674 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1270 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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