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.

47 entries on 1 page. Showing entries 1 - 47.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Tissue     

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Disease     

ID_report     

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+/. - c.1036A>C r.(?) p.(Asn346His) - Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Dreyer 2000, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Norway - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Ouyang 2004, USMA missense analysis, missense variant in MSV3d - - Germline - 0/256 controls +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Ouyang 2004 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Homozygous; Pathogenic PubMed: Malm 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Malm 2010 Proband - - Sweden - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Homozygous; Pathogenic PubMed: Malm 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Malm 2010 Proband - - Sweden - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Homozygous; Pathogenic PubMed: Malm 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Malm 2010 Relative - - Sweden - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Homozygous; Pathogenic PubMed: Malm 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Malm 2010 Relative - - Sweden - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Homozygous; Pathogenic PubMed: Malm 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Malm 2010 Relative - - Sweden - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Homozygous; Pathogenic PubMed: Malm 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Malm 2010 Relative - - Sweden - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; mutation PubMed: Vastinsalo 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/150 controls +FatI;+MslI;+CviAII; - - DNA PE, SEQ - APEX USH2 - PubMed: Vastinsalo 2012 Proband - - Finland - - - - - 1 Anne-Françoise Roux
+?/? 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; mutation PubMed: Krawitz 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Unknown - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; mutation PubMed: Krawitz 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+MslI;+CviAII; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; mutation 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
+/+ 6 c.1036A>C r.(?) p.(Asn346His) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 Heterozygous; mutation 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.1036A>C r.(?) p.(Asn346His) - Parent #1 - likely pathogenic g.216498754T>G - - - USH2A_000022 - PubMed: Holtan 2020 - - Germline - 5/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 5 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 5 Global Variome, with Curator vacancy
+?/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - likely pathogenic (recessive) g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Bryant 2018 - rs369522997 Germline - - - - - DNA SEQ-NG - WES retinal disease JB41 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Unknown - likely pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 570 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - likely pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 96 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - likely pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 569 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 6 c.1036A>C r.(?) p.(Asn346His) - Parent #1 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 possible duplicate; unknown variant 2nd chromosome PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-26 (D20) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat75 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Neuhaus 2017 - rs369522997 Germline yes - - - - DNA SEQ - - USH Pat121 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Neuhaus 2017 - rs369522997 Germline yes - - - - DNA SEQ - - USH Pat73 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.1036A>C r.(?) p.(Asn346His) - Parent #2 - pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Neuhaus 2017 - rs369522997 Germline - - - - - DNA SEQ - - USH Pat17 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - likely pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 29 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Unknown - likely pathogenic g.216498754T>G g.216325412T>G p.Asn346His:c.1036A/C, p.Ser1369Leu:c.4106C/T(alleles in trans) - USH2A_000022 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Unknown - likely pathogenic g.216498754T>G g.216325412T>G USH2A c.1036A>C, p.Asn346His - USH2A_000022 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-071 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Unknown - likely pathogenic g.216498754T>G g.216325412T>G USH2A c.1036A>C, p.Asn346His - USH2A_000022 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2931_004516 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Unknown ACMG likely pathogenic g.216498754T>G - - - USH2A_000022 - PubMed: Mansard et al, 2021 - rs369522997 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.1036A>C r.(?) p.(Asn346His) - Maternal (confirmed) ACMG likely pathogenic g.216498754T>G - - - USH2A_000022 - PubMed: Mansard et al, 2021 - rs369522997 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 6 c.1036A>C r.(?) p.(Asn346His) - Unknown - likely pathogenic g.216498754T>G - c.1036A>C - USH2A_000022 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. 6 c.1036A>C r.(?) p.(Asn346His) - Unknown - likely pathogenic g.216498754T>G - p.N346H - USH2A_000022 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. - c.1036A>C r.(?) p.(Asn346His) - Parent #1 - likely pathogenic g.216498754T>G g.216325412T>G USH2A c.1036A>C - USH2A_000022 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 26 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1036A>C r.(?) p.(Asn346His) - Unknown ACMG pathogenic g.216498754T>G g.216325412T>G - - USH2A_000022 ACMG GN005 criteria: PM2_P PM3_VS PP3_P PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021; PubMed: Sloan-Heggen, C. M. et al., 2016; PubMed: Neuhaus, C. et al., 2017 - rs369522997 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1036A>C r.(?) p.(Asn346His) - Unknown ACMG pathogenic (recessive) g.216498754T>G g.216325412T>G - - USH2A_000022 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 48347 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-324 PubMed: Weisschuh 2024 patient 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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