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.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Parent #2 - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Baux 2007 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Unknown - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Baux 2007 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Parent #2 - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Maternal (confirmed) - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Baux 2014 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Parent #2 - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous - - - Germline - - - - - DNA minigene, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Unknown - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Sandberg 2008 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Sandberg 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Paternal (inferred) - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Baux 2014 - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Unknown - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Unknown - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - - - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband F - Germany - - - - - 1 Peter Krawitz
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Unknown - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous PubMed: Lenassi 2015 - - Germline - - - - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Unknown - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015 - rs397518048 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9424G>T r.(?) p.(Gly3142*) Fibronectin type-III 18 (3110-3200) Parent #2 - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/. - c.9424G>T r.(?) p.(Gly3142*) - Unknown ACMG pathogenic g.215990485C>A - - - USH2A_000057 - 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.9424G>T r.(?) p.(Gly3142*) - Parent #2 - pathogenic (recessive) g.215990485C>A g.215817143C>A - - USH2A_000057 - 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.9424G>T r.(?) p.(Gly3142*) - Parent #1 - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 - PubMed: Biswas 2017 - rs397518048 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.SH.0008 PubMed: Biswas 2017 - - - United States white - - - - 1 LOVD
+/. - c.9424G>T r.(?) p.(Gly3142*) - Both (homozygous) - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat38 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.9424G>T r.(?) p.(Gly3142*) - Parent #2 - pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat37 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.9424G>T r.(?) p.(Gly3142*) - Unknown - likely pathogenic g.215990485C>A g.215817143C>A USH2A c.9424G>T, p.Gly3142Ter - USH2A_000057 Conflicting in silico model predictions, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI675_001355 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.9424G>T r.(?) p.(Gly3142Ter) - Both (homozygous) ACMG pathogenic g.215990485C>A - - - USH2A_000057 - PubMed: Mansard et al, 2021 - rs397518048 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.9424G>T r.(?) p.(Gly3142*) - Parent #1 - likely pathogenic g.215990485C>A g.215817143C>A USH2A, variant 1: c.9424G>T/p.G3142*, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000057 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 69 PubMed: Weisschuh 2020 Filing key number: 33, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.9424G>T r.(?) p.(Gly3142*) - Parent #1 - likely pathogenic g.215990485C>A g.215817143C>A USH2A, variant 1: c.9424G>T/p.G3142*, variant 2: c.14803C>T/p.R4935* - USH2A_000057 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 540 PubMed: Weisschuh 2020 Filing key number: 189, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.9424G>T r.(?) p.(Gly3142*) - Parent #1 - likely pathogenic g.215990485C>A g.215817143C>A USH2A, variant 1: c.9424G>T/p.G3142*, variant 2: c.10465G>A/p.A3489T - USH2A_000057 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 1094 PubMed: Weisschuh 2020 Filing key number: 731, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.9424G>T r.(?) p.(Gly3142*) - Parent #1 - likely pathogenic g.215990485C>A g.215817143C>A USH2A, variant 1: c.8522G>A/p.W2841*, variant 2: c.9424G>T/p.G3142* - USH2A_000057 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 566 PubMed: Weisschuh 2020 Filing key number: 203, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 48 c.9424G>T r.(?) p.(Gly3142*) - Unknown - pathogenic g.215990485C>A - c.9424G>T - USH2A_000057 - PubMed: Colombo-2020 - rs397518048 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 48 c.9424G>T r.(?) p.(Gly3142*) - Unknown - pathogenic g.215990485C>A - c.9424G>T - USH2A_000057 - PubMed: Colombo-2020 - rs397518048 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 48 c.9424G>T r.(?) p.(Gly3142*) - Unknown - pathogenic g.215990485C>A - c.9424G>T - USH2A_000057 - PubMed: Colombo-2020 - rs397518048 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.9424G>T r.(?) p.(Gly3142*) - Parent #2 - likely pathogenic g.215990485C>A g.215817143C>A USH2A c.9424G>T - USH2A_000057 no protein annotation written; heterozygous PubMed: Charng 2020 - - Germline yes - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 10 PubMed: Charng 2020 - M - Australia - - - - - 1 LOVD
+/. - c.9424G>T r.(?) p.(Gly3142*) - Unknown ACMG pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-48626 rs397518048 Germline yes - - - - DNA SEQ-NG-I - - USH2A 2696737 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.9424G>T r.(?) p.(Gly3142Ter) - Unknown ACMG pathogenic g.215990485C>A g.215817143C>A - - USH2A_000057 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PubMed: Lenassi, E. et al., 2015; PubMed: Bonnet, C. et al., 2016; PubMed: Colombo, L. et al., 2022; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021; PubMed: Neuhaus, C. et al., 2017 - rs397518048 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9424G>T r.(?) p.(Gly3142Ter) - Unknown ACMG pathogenic (recessive) g.215990485C>A g.215817143C>A - - USH2A_000057 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 48626 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1048 PubMed: Weisschuh 2024 patient, no family history M - 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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