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.

41 entries on 1 page. Showing entries 1 - 41.
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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     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/? 50 c.9958G>T r.(?) p.(Gly3320Cys) Cystein rich (3192-3358) Paternal (inferred) ACMG VUS g.215972249C>A g.215798907C>A - - USH2A_000877 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/? 50 c.9958G>T r.(?) p.(Gly3320Cys) Cystein rich (3192-3358) Maternal (inferred) ACMG VUS g.215972249C>A g.215798907C>A - - USH2A_000877 Homozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/? 50 c.9958G>T r.(?) p.(Gly3320Cys) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215972249C>A g.215798907C>A - - USH2A_000877 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/. - c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - likely pathogenic (recessive) g.215972249C>A - 1:215972249C>A ENST00000307340.3:c.9958G>T (Gly3320Cys) - USH2A_000877 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006007 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-East - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic (recessive) g.215972249C>A g.215798907C>A - - USH2A_000877 - PubMed: Sun 2018 - - Germline - - - - - DNA MLPA, SEQ-NG - - HL 19541 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic (recessive) g.215972249C>A g.215798907C>A - - USH2A_000877 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19860 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 - likely pathogenic g.215972249C>A g.215798907C>A - - USH2A_000877 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP019 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 - likely pathogenic g.215972249C>A g.215798907C>A - - USH2A_000877 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP062 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - pathogenic (recessive) g.215972249C>A g.215798907C>A - - USH2A_000877 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP313 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Unknown ACMG likely pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.(Gly3320Cys) - USH2A_000877 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 6 containing 386 genes retinal disease 154 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - likely pathogenic g.215972249C>A g.215798907C>A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-625 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 - likely pathogenic (recessive) g.215972249C>A - c.9958G>T - USH2A_000877 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - likely pathogenic (recessive) g.215972249C>A - c.9958G>T - USH2A_000877 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - likely pathogenic (recessive) g.215972249C>A - c.9958G>T - USH2A_000877 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - likely pathogenic (recessive) g.215972249C>A - c.9958G>T - USH2A_000877 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG VUS g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 32 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG VUS g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 60 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 ACMG VUS g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 57 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18012919 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18113666 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18093274 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18100638 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18100639 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.Gly3320Cys - USH2A_000877 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH R017060523 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1082 PubMed: Zhu 2021 family 1, patient SRF1082 M - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF488 PubMed: Zhu 2021 family 67, patient SRF488 F - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17214119 PubMed: Zhu 2021 family 39, patient 17214119 M - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF379 PubMed: Zhu 2021 family 63, patient SRF379 M - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 single heterozygous variant in a recessive disesase, no second allele PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1352 PubMed: Zhu 2021 - - - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 single heterozygous variant in a recessive disesase, no second allele PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_5 PubMed: Zhu 2021 - - - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 single heterozygous variant in a recessive disesase, no second allele PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1361 PubMed: Zhu 2021 family , patient - - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 single heterozygous variant in a recessive disesase, no second allele PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1499 PubMed: Zhu 2021 family , patient - - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf35 PubMed: Zhu 2021 family 204, patient USHsrf35 F - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_15 PubMed: Zhu 2021 family 64, patient AXLM_15 M - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF498 PubMed: Zhu 2021 family 55, patient SRF498 F - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17485144 PubMed: Zhu 2021 family 121, patient 17485144 M - China - - - - - 1 LOVD
+/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #2 ACMG pathogenic g.215972249C>A g.215798907C>A USH2A c.9958G>T, p.G3320C - USH2A_000877 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42646934 PubMed: Zhu 2021 family 245, patient 42646934 M - China - - - - - 1 LOVD
+?/. - c.9958G>T r.(?) p.(Gly3320Cys) - Unknown - likely pathogenic g.215972249C>A g.215798907C>A USH2A (NM_206933.2):c.9958G>T(p.G3320C)/c.99_100insT(p.R34Sfs*41) - USH2A_000877 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 129 - - - DNA SEQ-NG-I blood - ? WHP29 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. 50 c.9958G>T r.[9958g>u,9898_9958del,9740_9958del] p.[Gly3320Cys,Ser3301Cysfs*9,Glu3248_Gly3320del] - Unknown ACMG likely pathogenic g.215972249C>A - - - USH2A_000877 mini-gene splicing assay; changes ACMG to likely pathogenic PubMed: Reurink 2022, Journal: Reurink 2022 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 50 c.9958G>T r.(?) p.(Gly3320Cys) - Parent #1 - likely pathogenic g.215972249C>A - c.9958G>T - USH2A_000877 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.9958G>T r.(?) p.(Gly3320Cys) - Unknown ACMG VUS g.215972249C>A g.215798907C>A - - USH2A_000877 ACMG GN005 criteria: PM2_P PM3_P PP1_M PP3_P PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Meng, X. et al., 2021; PubMed: Dan, H. et al., 2020; PubMed: Jiang, L. et al., 2015; PubMed: Chen, X. et al., 2014 - rs1285853856 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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