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.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

Template     

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Disease     

ID_report     

Reference     

Remarks     

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+/+ 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 Heterozygous PubMed: Lenassi 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19395 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19399 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19954 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 73036 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 73061 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA NM_206933.2:c.99_100insT, NP_996816.2:p.(Arg34SerfsTer41), NC_000001.10:g.216595579_216595580insA - USH2A_000889 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016122601 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 3 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - F - China Chinese - - - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - F - China Chinese - - - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - F - China Chinese - - - - 2 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA c.99_100insT, p.Ser33Serfs42 - USH2A_000889 heterozygous, error in annotation:c.1354_1355insT causes p.(Arg34Serfs*41) instead of p.(Ser33Serfs42) PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184144_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Paternal (confirmed) - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA c.99_100insT, p.(R34Sfs41) - USH2A_000889 - PubMed: Li 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel containing 168 deafness genes, low-coverage WGS retinal disease Case 3 PubMed: Li 2019 - M no - - - - - - 1 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34SfsX41 - USH2A_000889 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 131 PubMed: Jauregui 2020 - F - (United States) Asian - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown ACMG pathogenic g.216422237_216422238insA g.216422237_216422238insA USH2A c.99_100insT, p.Ser33Serfs42, heterozygous - USH2A_000889 error in annotation: c.99_100insT causes p.(Arg34SerfsTer41), and not p.(Ser33Serfs42) PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 20 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - likely pathogenic (recessive) g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - likely pathogenic (recessive) g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) ACMG likely pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Arg34Serfs*41 - USH2A_000889 homozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 22 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+?/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 ACMG likely pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Arg34Serfs*41 - USH2A_000889 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.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Arg34Serfs41 - USH2A_000889 homozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD1805172 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Ser33Serfs42 - USH2A_000889 homozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP18036854 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Ser33Serfs42 - USH2A_000889 homozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DT19001417 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Ser33SerfsX42 - USH2A_000889 error in annotation, first modified amino acid should be indicated, p.(Arg34Serfs*41) and not p.(Ser33Serfs*42); heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH R017070069 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Ser33Serfs42 - USH2A_000889 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD17091313 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Arg34Serfs41 - USH2A_000889 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD1808628 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Arg34Serfs41 - USH2A_000889 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD180882-1 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.Ser33Serfs42 - USH2A_000889 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DTP1810226 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Maternal (confirmed) - pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT (p.Arg34Serfs*41) - USH2A_000889 apparent homozygosity - uniparental (maternal) isodisomy PubMed: Fu 2020 - - Germline yes - - - - DNA SEQ-NG-I, arraySNP, STR, SEQ blood whole exome sequencing USH II:1 PubMed: Fu 2020 - M - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42628935 PubMed: Zhu 2021 family 65, patient 42628935 M - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 16999034 PubMed: Zhu 2021 family 16*, patient 16999034 M - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF361 PubMed: Zhu 2021 family 59, patient SRF361 M - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 16999034_1 PubMed: Zhu 2021 family 16*, patient 16999034_1 F - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42628935_1 PubMed: Zhu 2021 family 65, patient 42628935_1 F - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1499 PubMed: Zhu 2021 family 92, patient SRF_1499 F - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1501 PubMed: Zhu 2021 family 189, patient SRF_1501 M - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1998 PubMed: Zhu 2021 family 171, patient SRF_1998 M - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1626 PubMed: Zhu 2021 family 151, patient SRF_1626 F - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #2 ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A c.99_100insT, p.R34Sfs*41 - USH2A_000889 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 41482940 PubMed: Zhu 2021 family 161, patient 41482940 F - China - - - - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs) - Unknown ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA M10: USH2A c.99_100insT, R34Sfs - USH2A_000889 heterozygous PubMed: Chen 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood xGen Exome Research Panel retinal disease 5-II:1 PubMed: Chen 2020 - F - China - - - - - 1 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A (NM_206933.2):c.9958G>T(p.G3320C)/c.99_100insT(p.R34Sfs*41) - USH2A_000889 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 129 - - - DNA SEQ-NG-I blood - ? WHP29 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34SerfsTer41) - Unknown ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_S PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Meng, X. et al., 2021; PubMed: Fu, J. et al., 2020; PubMed: Dai, H. et al., 2008; PubMed: Jin, X. et al., 2022; PubMed: Shen, C. et al., 2022; PubMed: Ganapathi, M. et al., 2022; PubMed: Sun, Y. et al., 2020; PubMed: Jauregui, R. et al., 2020 - rs141672841 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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