All variants in the USH2A gene


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.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

VIP     

Methylation     

Owner     
+?/. 5 c.802G>A r.(?) p.(Gly268Arg) - - likely pathogenic g.216500979C>T g.216327637C>T - - USH2A_001448 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - 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 0 - Maria Bitner-Glindzicz
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI 0 - Anne-Françoise Roux
+?/? 5 c.802G>A r.802g>a p.Gly268Arg - 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 0 - Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI 0 - Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI 0 - Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - -MmeI 0 - Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - 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 0 - Anne-Françoise Roux
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - - 0 - Crystel Bonnet
+?/? 5 c.802G>A r.(802g>a) p.(Gly268Arg) - ACMG VUS g.216500979C>T g.216327637C>T - - USH2A_000267 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs111033280 Germline - - - 0 - Crystel Bonnet
+/. - c.802G>A r.(?) p.(Gly268Arg) - - pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs111033280 Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+/. - c.802G>A r.(?) p.(Gly268Arg) - - pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs111033280 Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+?/. - c.802G>A r.(?) p.(Gly268Arg) - - 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 - 0 - Mohammed Faruq
+/. - c.802G>A r.(?) p.(Gly268Arg) - ACMG pathogenic g.216500979C>T - - - USH2A_000267 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.802G>A r.(?) p.(Gly268Arg) - - pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Fuster-Garcia 2018 - - Germline - - - 0 - Global Variome, with Curator vacancy
+?/. - c.802G>A r.(?) p.(Gly268Arg) - - likely pathogenic g.216500979C>T - - - USH2A_000267 - - - rs111033280 Unknown - - - 0 - MobiDetails
+/. - c.802G>A r.(?) p.(Gly268Arg) - ACMG pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Sun 2018 - - Germline - - - 0 - -
+/. - c.802G>A r.(?) p.(Gly268Arg) - ACMG pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Sun 2018 - - Germline - - - 0 - -
+/. - c.802G>A r.(?) p.(Gly268Arg) - ACMG pathogenic (recessive) g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Sun 2018 - - Germline - - - 0 - -
+/. - c.802G>A r.(?) p.(Gly268Arg) - - pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - -
+?/. - c.802G>A r.(?) p.(Gly268Arg) - - likely pathogenic g.216500979C>T g.216327637C>T - - USH2A_000267 - 0 - - Germline yes - - 0 - -
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