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     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/? 63 c.13339A>G r.(?) p.(Met4447Val) Fibronectin type-III 30 (4444-4528) Unknown ACMG likely benign g.215847914T>C g.215674572T>C - - USH2A_000441 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown - pathogenic g.215847914T>C g.215674572T>C - - USH2A_000441 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs139474806 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.13339A>G r.(?) p.(Met4447Val) - Unknown ACMG likely pathogenic g.215847914T>C - - - USH2A_000441 - 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.13339A>G r.(?) p.(Met4447Val) - Parent #1 ACMG pathogenic (recessive) g.215847914T>C g.215674572T>C - - USH2A_000441 - PubMed: Sun 2018 - - Germline - - - - - DNA MLPA, SEQ-NG - - HL 19077 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown - likely pathogenic (recessive) g.215847914T>C g.215674572T>C - - USH2A_000441 - PubMed: Xu 2014 - rs139474806 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP202 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
?/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown - VUS g.215847914T>C g.215674572T>C - - USH2A_000441 - PubMed: Xu 2014 - rs139474806 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP309 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Unknown - VUS g.215847914T>C - c.13339A>G - USH2A_000441 - PubMed: Chen-2013 - rs139474806 Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
?/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown - VUS g.215847914T>C - USH2A(NM_206933.2):c.13339A>G (p.M4447V) - USH2A_000441 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.13339A>G r.(?) p.(Met4447Val) - Both (homozygous) - likely pathogenic g.215847914T>C g.215674572T>C c.13339A>G, p.Met4447Val - USH2A_000441 homozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184080_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 - likely pathogenic g.215847914T>C g.215674572T>C USH2A:NM_206933:exon63:c.13339A>G:p.M4447V - USH2A_000441 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F6-II-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 - likely pathogenic g.215847914T>C g.215674572T>C USH2A:NM_206933:exon63:c.13339A>G:p.M4447V - USH2A_000441 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F8-II-3 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 - likely pathogenic g.215847914T>C g.215674572T>C USH2A:NM_206933:exon63:c.13339A>G:p.M4447V - USH2A_000441 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F24-III-2 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Unknown ACMG VUS g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.(Met4447Val) - USH2A_000441 heterozygous PubMed: Dan 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel 6 containing 386 genes retinal disease 173 PubMed: Dan 2020 - M no China - - - - - 1 LOVD
+?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Unknown - likely pathogenic (recessive) g.215847914T>C - c.13339A>G - USH2A_000441 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Unknown - likely pathogenic (recessive) g.215847914T>C - c.13339A>G - USH2A_000441 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 63 c.13339A>G r.(?) p.(Met4447Val) - Unknown - likely pathogenic (recessive) g.215847914T>C - c.13339A>G - USH2A_000441 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown ACMG likely pathogenic g.215847914T>C g.215674572T>C USH2A c.11389+3A>T(;)13339A>G, V1: c.13339A>G, (p.Met4447Val) - USH2A_000441 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F060 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.Met4447Val - USH2A_000441 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 58 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. - c.13339A>G r.(?) p.(Met4447Val) - Parent #1 - VUS g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.Met4447Val - USH2A_000441 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD17110186 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
?/. - c.13339A>G r.(?) p.(Met4447Val) - Parent #2 - VUS g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.Met4447Val - USH2A_000441 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD17113982 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.M4447V - USH2A_000441 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF416 PubMed: Zhu 2021 family 75, patient SRF416 M - China - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.M4447V - USH2A_000441 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF351 PubMed: Zhu 2021 family 3, patient SRF351 M - China - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.M4447V - USH2A_000441 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease HSR482 PubMed: Zhu 2021 family 53, patient HSR482 F - China - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #1 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.M4447V - USH2A_000441 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF502 PubMed: Zhu 2021 family 70, patient SRF502 M - China - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #2 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.M4447V - USH2A_000441 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 13 PubMed: Zhu 2021 family 122, patient 13 M - China - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #2 ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.M4447V - USH2A_000441 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 842 PubMed: Zhu 2021 family 232, patient 842 M - China - - - - - 1 LOVD
+?/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown - likely pathogenic g.215847914T>C g.215674572T>C USH2A c.11389+3A>T(;)13339A>G; p.(Met4447Val) - USH2A_000441 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000599; GnomAD_All: 0.000116 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F060 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown ACMG pathogenic g.215847914T>C g.215674572T>C USH2A c.13339A>G, p.(Met4447Val) - USH2A_000441 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 13_15 PubMed: Zhu 2022 family 13, individual 15 M - - - - - - - 1 LOVD
+/. 63 c.13339A>G r.(?) p.(Met4447Val) - Parent #2 - pathogenic g.215847914T>C - c.13339A>G - USH2A_000441 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.13339A>G r.(?) p.(Met4447Val) - Unknown ACMG VUS g.215847914T>C g.215674572T>C - - USH2A_000441 ACMG GN005 criteria: PM2_P PM3_M 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: Kim, Y. N. et al., 2021 - rs139474806 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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