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.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

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Disease     

ID_report     

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-?/? 43i c.8682-9A>G r.(?) p.(?) - Paternal (confirmed) ACMG likely benign g.216040521T>C g.215867179T>C - - USH2A_000514 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
?/. 43i c.8682-9A>G r.spl? p.(?) - Parent #1 ACMG VUS g.216040521T>C - - - USH2A_000514 predicted non pathogenic PubMed: Ivanova 2018 - - Germline - - none - - DNA SEQ-NG-S - - USH2 Pat4 PubMed: Ivanova 2018 Proband F - Russian Federation Slavonian - - - - 1 Vladimir Strelnikov
?/. 43i c.8682-9A>G r.spl? p.(?) - Parent #1 ACMG VUS g.216040521T>C - - - USH2A_000514 predicted non pathogenic PubMed: Ivanova 2018 - - Germline - - none - - DNA SEQ-NG-S - - USH2 Pat11 PubMed: Ivanova 2018 - M - Russian Federation Slavonian - - - - 1 Vladimir Strelnikov
?/. - c.8682-9A>G r.(=) p.(=) - Unknown - VUS g.216040521T>C g.215867179T>C - - USH2A_000514 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8682-9A>G r.(=) p.(=) - Parent #1 - pathogenic g.216040521T>C g.215867179T>C - - USH2A_000514 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs372347027 Germline - 1/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.8682-9A>G r.spl p.? - Parent #1 - likely pathogenic g.216040521T>C g.215867179T>C IVS43-9A>G - USH2A_000514 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 100 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.8682-9A>G r.spl p.? - Parent #2 - likely pathogenic g.216040521T>C g.215867179T>C IVS43-9A>G - USH2A_000514 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 573 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.8682-9A>G r.spl p.? - Parent #1 - pathogenic g.216040521T>C g.215867179T>C - - USH2A_000514 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat98 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.8682-9A>G r.spl p.? - Unknown - pathogenic g.216040521T>C g.215867179T>C - - USH2A_000514 no variant 2nd chromosome PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel USH Pat128 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.8682-9A>G r.spl p.? - Parent #2 - pathogenic g.216040521T>C g.215867179T>C - - USH2A_000514 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat28 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.8682-9A>G r.spl p.(?) - Both (homozygous) - likely pathogenic g.216040521T>C g.215867179T>C USH2A c.8682-9A>G - USH2A_000514 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-005 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.8682-9A>G r.spl p.(?) - Unknown - likely pathogenic g.216040521T>C g.215867179T>C c.8682-9A>G - USH2A_000514 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-005 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.8682-9A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.216040521T>C g.215867179T>C USH2A c.8682-9A>G, p.(?) - USH2A_000514 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 123 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.8682-9A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216040521T>C g.215867179T>C USH2A, variant 1: c.8682-9A>G/p.?, variant 2: c.12234_12235del/ p.N4079Wfs*19 - USH2A_000514 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 489 PubMed: Weisschuh 2020 Filing key number: 161, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.8682-9A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216040521T>C g.215867179T>C USH2A, variant 1: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL, variant 2: c.8682-9A>G/p.? - USH2A_000514 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1204 PubMed: Weisschuh 2020 Filing key number: 913, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.8682-9A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216040521T>C g.215867179T>C USH2A, variant 1: c.11048-2A>G/p.?, variant 2: c.8682-9A>G/p.? - USH2A_000514 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1259 PubMed: Weisschuh 2020 Filing key number: 1053, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 43i c.8682-9A>G r.(=) p.(=) - Unknown - likely pathogenic (recessive) g.216040521T>C - c.8682-9A>G - USH2A_000514 - PubMed: Colombo-2020 - rs372347027 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 43i c.8682-9A>G r.(=) p.(=) - Unknown - likely pathogenic g.216040521T>C - c.8682-9A>G - USH2A_000514 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 43i c.8682-9A>G r.(=) p.(=) - Unknown - likely pathogenic g.216040521T>C - c.8682-9A>G - USH2A_000514 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 43i c.8682-9A>G r.(=) p.(=) - Both (homozygous) - likely pathogenic g.216040521T>C - c.8682-9A>G - USH2A_000514 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. - c.8682-9A>G r.spl p.? - Unknown ACMG pathogenic g.216040521T>C g.215867179T>C - - USH2A_000514 ACMG GN005 criteria: PM2_P PM3_VS PP3_P PubMed: Glockle, N. et al., 2014; PubMed: Colombo, L. et al., 2022; PubMed: Maltese, P. E. et al., 2022; PubMed: Wafa, T. T. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Jauregui, R. et al., 2020; PubMed: Neuhaus, C. et al., 2017 - rs372347027 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8682-9A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216040521T>C g.215867179T>C - - USH2A_000514 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 197510 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-358 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.8682-9A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216040521T>C g.215867179T>C - - USH2A_000514 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-440 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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