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.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

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Disease     

ID_report     

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Owner     
+?/? 50 c.9815C>T r.(?) p.(Pro3272Leu) - Parent #2 - likely pathogenic g.215972392G>A g.215799050G>A - - USH2A_000163 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - likely pathogenic g.215972392G>A g.215799050G>A USH2A(NM_206933.4):c.9815C>T (p.P3272L) - USH2A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 50 c.9815C>T r.(?) p.(Pro3272Leu) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215972392G>A g.215799050G>A - - USH2A_000163 Heterozygous PubMed: Leijendeckers 2009, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Leijendeckers 2009 Proband F - Netherlands - - - - - 1 Anne-Françoise Roux
+?/? 50 c.9815C>T r.(?) p.(Pro3272Leu) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215972392G>A g.215799050G>A - - USH2A_000163 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 50 c.9815C>T r.(?) p.(Pro3272Leu) Cystein rich (3192-3358) Unknown ACMG VUS g.215972392G>A g.215799050G>A - - USH2A_000163 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
+?/? 50 c.9815C>T r.(?) p.(Pro3272Leu) Cystein rich (3192-3358) Maternal (confirmed) ACMG VUS g.215972392G>A g.215799050G>A - - USH2A_000163 Heterozygous; Pathogenic PubMed: Lenarduzzi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Lenarduzzi 2015 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+?/? 50 c.9815C>T r.(?) p.(Pro3272Leu) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215972392G>A g.215799050G>A - - USH2A_000163 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+?/? 50 c.9815C>T r.(?) p.(Pro3272Leu) Cystein rich (3192-3358) Parent #2 ACMG VUS g.215972392G>A g.215799050G>A - - USH2A_000163 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - pathogenic g.215972392G>A g.215799050G>A USH2A(NM_206933.4):c.9815C>T (p.P3272L) - USH2A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Parent #1 - pathogenic (recessive) g.215972392G>A g.215799050G>A - - USH2A_000163 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease Fam9P12 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - 1 Sandro Banfi
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Parent #2 - likely pathogenic (recessive) g.215972392G>A g.215799050G>A - - USH2A_000163 - PubMed: Eandi 2017 - - Germline - - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam4PatTO5 PubMed: Eandi 2017 - M - Italy - - - - - 1 LOVD
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - pathogenic g.215972392G>A g.215799050G>A - - USH2A_000163 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1855 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Parent #1 - pathogenic g.215972392G>A g.215799050G>A - - USH2A_000163 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel USH Pat86 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Parent #1 - pathogenic g.215972392G>A g.215799050G>A - - USH2A_000163 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease RC+V.27 PubMed: Ge 2015 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 LOVD
+?/. 50 c.9815C>T r.(9815c>u) p.(Pro3272Leu) - Parent #1 ACMG likely pathogenic g.215972392G>A g.215799050G>A - - USH2A_000163 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0120 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown ACMG VUS g.215972392G>A - - - USH2A_000163 - PubMed: Mansard et al, 2021 - rs764182950 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown ACMG VUS g.215972392G>A - - - USH2A_000163 - PubMed: Mansard et al, 2021 - rs764182950 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Both (homozygous) - likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.Pro3272Leu - USH2A_000163 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005203 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - pathogenic (recessive) g.215972392G>A - c.9815C>T - USH2A_000163 - PubMed: Colombo-2020 - rs764182950 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - pathogenic (recessive) g.215972392G>A - c.9815C>T - USH2A_000163 - PubMed: Colombo-2020 - rs764182950 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - pathogenic (recessive) g.215972392G>A - c.9815C>T - USH2A_000163 - PubMed: Colombo-2020 - rs764182950 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Both (homozygous) - pathogenic (recessive) g.215972392G>A - c.9815C>T - USH2A_000163 - PubMed: Colombo-2020 - rs764182950 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Both (homozygous) - pathogenic (recessive) g.215972392G>A - c.9815C>T - USH2A_000163 - PubMed: Colombo-2020 - rs764182950 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - likely pathogenic g.215972392G>A - p.P3272L - USH2A_000163 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Parent #1 ACMG likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.P3272L - USH2A_000163 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease HSR826 PubMed: Zhu 2021 family 114, patient HSR826 F - China - - - - - 1 LOVD
+?/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Parent #2 ACMG likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.P3272L - USH2A_000163 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf25 PubMed: Zhu 2021 family 200, patient USHsrf25 M - China - - - - - 1 LOVD
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Parent #2 - likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.(Pro3272Leu) - USH2A_000163 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.9815C>T r.(?) p.(Pro3272Leu) - Both (homozygous) - likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.(Pro3272Leu) - USH2A_000163 homozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 2 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Both (homozygous) - likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.(Pro3272Leu) - USH2A_000163 homozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 21 PubMed: Falsini 2021 - M - Italy - - - - - 1 LOVD
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Both (homozygous) - likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.(Pro3272Leu) - USH2A_000163 homozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 23 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+?/. - c.9815C>T r.(?) p.(Pro3272Leu) - Parent #1 ACMG likely pathogenic g.215972392G>A g.215799050G>A USH2A c.9815C>T, p.(Pro3272Leu) - USH2A_000163 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0120 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+?/. 50 c.9815C>T r.(?) p.(Pro3272Leu) - Parent #2 - likely pathogenic g.215972392G>A - c.9815C>T - USH2A_000163 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown ACMG pathogenic g.215972392G>A g.215799050G>A - - USH2A_000163 ACMG GN005 criteria: PS4_S PM2_P PM3_VS PubMed: Falsini, B. et al., 2021; PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Jiang, L. et al., 2015; PubMed: Colombo, L. et al., 2022; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021; PubMed: Karali, M. et al., 2019; PubMed: Colombo, L. et al., 2021; PubMed: Eandi, C. M. et al., 2017; PubMed: Inaba, A. et al., 2020; PubMed: Neuhaus, C. et al., 2017 - rs764182950 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9815C>T r.(?) p.(Pro3272Leu) - Unknown - pathogenic g.215972392G>A - - - USH2A_000163 - - - rs764182950 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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