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.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Owner     
+?/? 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #1 - likely pathogenic g.216138711A>C g.215965369A>C - - USH2A_000779 - PubMed: Glockle 2013 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S - - retinal disease - ? - ? ? - ? - - - - 1 Muhammad Ajmal
+?/? 37 c.7068T>G r.(?) p.(Asn2356Lys) Fibronectin type-III 10 (2328-2432) Unknown ACMG VUS g.216138711A>C g.215965369A>C - - USH2A_000779 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +BsmFI;+Bsu36I; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 ACMG likely pathogenic (recessive) g.216138711A>C g.215965369A>C - - USH2A_000779 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19403 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - likely pathogenic (recessive) g.216138711A>C g.215965369A>C - - USH2A_000779 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP341 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Parent #1 - likely pathogenic g.216138711A>C g.215965369A>C - - USH2A_000779 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W37-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - VUS g.216138711A>C - c.7068T>G - USH2A_000779 - PubMed: Chen-2013 - rs200038092 Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Paternal (confirmed) - likely pathogenic g.463028T>G g.215965369A>C c.7068T>G, p.N2356K - USH2A_000779 compound heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease RP03-II:1 PubMed: Liu 2020 - F no - - - - - - 1 LOVD
?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Unknown ACMG VUS g.216138711A>C g.215965369A>C USH2A c.T7068G, p.N2356K - USH2A_000779 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 126 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Unknown ACMG VUS g.216138711A>C g.215965369A>C USH2A c.T7068G, p.N2356K - USH2A_000779 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 127 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - likely pathogenic (recessive) g.216138711A>C - c.7068T>G - USH2A_000779 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - likely pathogenic (recessive) g.216138711A>C - c.7068T>G - USH2A_000779 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - likely pathogenic (recessive) g.216138711A>C - c.7068T>G - USH2A_000779 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - likely pathogenic (recessive) g.216138711A>C - c.7068T>G - USH2A_000779 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #1 ACMG VUS g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.Asn2356Lys - USH2A_000779 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 66 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Both (homozygous) ACMG VUS g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.Asn2356Lys - USH2A_000779 homozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 67 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 - pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.Asn2356Lys - USH2A_000779 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD17120980 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 - pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.Asn2356Lys - USH2A_000779 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18102620 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.7068T>G r.(?) p.(Asn2356Lys) - Unknown - pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.Asn2356Lys - USH2A_000779 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP18080533 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #1 ACMG likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.N2356K - USH2A_000779 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W37-1 PubMed: Zhu 2021 family 133, patient W37-1 F - China - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #1 ACMG likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.N2356K - USH2A_000779 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42467813 PubMed: Zhu 2021 family 61, patient 42467813 F - China - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 ACMG likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.N2356K - USH2A_000779 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 97 PubMed: Zhu 2021 family 125, patient 97 M - China - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 ACMG likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.N2356K - USH2A_000779 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 948 PubMed: Zhu 2021 family 126, patient 948 F - China - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 ACMG likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.N2356K - USH2A_000779 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_17 PubMed: Zhu 2021 family 76, patient AXLM_17 F - China - - - - - 1 LOVD
+?/. 37 c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 ACMG likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.N2356K - USH2A_000779 - 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
+?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Parent #2 - likely pathogenic g.216138711A>C g.215965369A>C USH2A c.7068T>G, p.(Asn2356Lys) - USH2A_000779 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
?/. - c.7068T>G r.(?) p.(Asn2356Lys) - Unknown ACMG VUS g.216138711A>C g.215965369A>C - - USH2A_000779 ACMG GN005 criteria: PP1_P PM3_P BS1_P PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Ma, D. J. et al., 2021; PubMed: Meng, X. et al., 2021; PubMed: Maltese, P. E. et al., 2022; PubMed: Inaba, A. et al., 2020; PubMed: Huang, X. F. et al., 2015 - rs200038092 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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