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.

42 entries on 1 page. Showing entries 1 - 42.
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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     

Segregation     

Frequency     

Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Owner     
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Unknown ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous; UV3 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - 0/96 controls -MmeI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Paternal (confirmed) ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 5 c.802G>A r.802g>a p.Gly268Arg - Parent #2 ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous; No effect on splicing (minigene) PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - 0/200 controls -MmeI - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Paternal (confirmed) ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Maternal (confirmed) ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Parent #2 ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Parent #2 ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Parent #2 ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - Parent #2 ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - Italy - - - - - 1 Crystel Bonnet
+/. - c.802G>A r.(?) p.(Gly268Arg) - Unknown - pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs111033280 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.802G>A r.(?) p.(Gly268Arg) - Both (homozygous) - pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs111033280 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.802G>A r.(?) p.(Gly268Arg) - Parent #1 - likely pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033280 Germline - 3/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.802G>A r.(?) p.(Gly268Arg) - Unknown ACMG pathogenic g.216500979C>T - - - USH2A_000267 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #2 - pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2058 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.802G>A r.(?) p.(Gly268Arg) - Unknown - likely pathogenic g.216500979C>T - - - USH2A_000267 - - - rs111033280 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #1 ACMG pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19207 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #1 ACMG pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19299 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #1 ACMG pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19836 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #1 - pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat125 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #2 - likely pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W197-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+?/. - c.802G>A r.(?) p.(Gly268Arg) - Unknown - likely pathogenic g.216500979C>T g.216327637C>T c.802G>A, p.Gly268Arg - USH2A_000267 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI663_001340 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #1 - likely pathogenic g.216500979C>T g.216327637C>T USH2A, variant 1: c.802G>A/p.G268R, variant 2: c.8522G>A/p.W2841* - USH2A_000267 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 28 PubMed: Weisschuh 2020 Filing key number: 14, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #1 - likely pathogenic g.216500979C>T g.216327637C>T USH2A, variant 1: c.10073G>A/p.C3358Y, variant 2: c.802G>A/p.G268R - USH2A_000267 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.802G>A r.(?) p.(Gly268Arg) - Both (homozygous) - likely pathogenic g.64472506C>T g.63762613C>T USH2A p.(Gly268Arg) - USH2A_000267 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations), c.802G>C also causes this change; homozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-16 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Unknown ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.(G268R) - USH2A_000267 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 19207 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+?/. 5 c.802G>A r.(?) p.(Gly268Arg) - Unknown - likely pathogenic (recessive) g.216500979C>T - c.802G>A - USH2A_000267 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Both (homozygous) - pathogenic g.216500979C>T - c.802G>A - USH2A_000267 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Khalaileh-2018 - - yes - Arab Muslim - - - - 4 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Unknown - pathogenic g.216500979C>T - c.802G>A - USH2A_000267 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Khalaileh-2018 - - yes - Arab Muslim - - - - 4 LOVD
+?/. 5 c.802G>A r.(?) p.(Gly268Arg) - Unknown - likely pathogenic g.216500979C>T - p.G268R - USH2A_000267 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Khalaileh-2018 - - yes - Arab Muslim - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #2 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.Gly268Arg - USH2A_000267 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 26 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #2 - pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.Gly268Arg - USH2A_000267 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18040329 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+?/. - c.802G>A r.(?) p.(Gly268Arg) - Maternal (inferred) - likely pathogenic g.216500979C>T g.216327637C>T USH2A c.G802A, p.G268R - USH2A_000267 heterozygous PubMed: Zhu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease 2150-II:1 PubMed: Zhu 2020 - F - China - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #1 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.G802A, p.G268R - USH2A_000267 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1446 PubMed: Zhu 2021 family 183, patient SRF1446 M - China - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #1 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.G268R - USH2A_000267 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease C812700 PubMed: Zhu 2021 family 110, patient C812700 F - China - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #2 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.G268R - USH2A_000267 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF2178 PubMed: Zhu 2021 family 56, patient SRF2178 F - China - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #2 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.G268R - USH2A_000267 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf1 PubMed: Zhu 2021 family 190, patient USHsrf1 M - China - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #2 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.G268R - USH2A_000267 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W197-1 PubMed: Zhu 2021 family 237, patient W197-1 F - China - - - - - 1 LOVD
+/. 5 c.802G>A r.(?) p.(Gly268Arg) - Parent #2 ACMG pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.G268R - USH2A_000267 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf20 PubMed: Zhu 2021 family 197, patient USHsrf20 M - China - - - - - 1 LOVD
+/. - c.802G>A r.(?) p.(Gly268Arg) - Parent #2 - pathogenic g.216500979C>T g.216327637C>T USH2A c.802G>A, p.(Gly268Arg) - USH2A_000267 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 8 PubMed: Falsini 2021 - M - Italy - - - - - 1 LOVD
+?/. 5 c.802G>A r.(?) p.(Gly268Arg) - Both (homozygous) - likely pathogenic g.216500979C>T - c.802G>A - USH2A_000267 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.802G>A r.(?) p.(Gly268Arg) - Unknown - pathogenic g.216500979C>T - - - USH2A_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.802G>A r.(?) p.(Gly268Arg) - Unknown ACMG pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 ACMG GN005 criteria: PM2_P PM3_VS PP1_S PP3_P PubMed: Gao, F. J. et al., 2021; PubMed: Falsini, B. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Zhu, X. et al., 2020; PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Jiang, L. et al., 2015; PubMed: Khalaileh, A. et al., 2018; PubMed: Weisschuh, N. et al., 2020; PubMed: Huang, X. F. et al., 2015; PubMed: Neuhaus, C. et al., 2017 - rs111033280 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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