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.

48 entries on 1 page. Showing entries 1 - 48.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I Whole blood - retinal disease 73ORG1 PubMed: de Castro-Miró 2016 - F no Spain - - - - - 1 Marta de Castro-Miró
?/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown - VUS g.215848243G>A g.215674901G>A USH2A(NM_206933.2):c.13010C>T (p.T4337M) - USH2A_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Unknown ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Paternal (inferred) ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Homozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Maternal (inferred) ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Homozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Unknown ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/130 controls - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Unknown ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Unknown ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Unknown ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 63 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Unknown ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 68 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Parent #1 ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 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
+?/? 68 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Parent #1 ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 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
+?/? 68 c.13010C>T r.(?) p.(Thr4337Met) Fibronectin type-III 28 (4265-4351) Parent #2 ACMG VUS g.215848243G>A g.215674901G>A - - USH2A_000194 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown - pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236137 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #2 - pathogenic (recessive) g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - - retinal disease RP-0485 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown - likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 105 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel USH Pat105 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #2 - pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 5FV+T.56 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease F7-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease F29-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K1793 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. 63 c.13010C>T r.(13010c>u) p.(Thr4337Met) - Parent #2 ACMG likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W19-0944 Journal: Reurink 2021 - - - - - - - - - 1 Janine Reurink
+/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG pathogenic g.215848243G>A g.215674901G>A NM_206933.2:c.13010C>T, NP_996816.2:p.(Thr4337Met), NC_000001.10:g.215848243G>A - USH2A_000194 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016041901 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG pathogenic g.215848243G>A g.215674901G>A NM_206933.2:c.13010C>T, NP_996816.2:p.(Thr4337Met), NC_000001.10:g.215848243G>A - USH2A_000194 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016092605 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Maternal (confirmed) - likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-1574 PubMed: Perez-Carro 2018 family RP-1574 F no Spain - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Maternal (confirmed) - likely pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-1574_II:2 PubMed: Perez-Carro 2018 family RP-1574 F no Spain - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown - likely pathogenic g.215848243G>A g.215674901G>A c.13010C>T, p.Thr4337Met - USH2A_000194 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-253 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Paternal (confirmed) ACMG likely pathogenic g.215848243G>A - - - USH2A_000194 - PubMed: Mansard et al, 2021 - rs527236137 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #2 - likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.T4337M - USH2A_000194 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 120 PubMed: Jauregui 2020 - F - (United States) Hispanic - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Paternal (confirmed) ACMG likely pathogenic g.215848243G>A - - - USH2A_000194 - PubMed: Mansard et al, 2021 - rs527236137 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG likely pathogenic g.215848243G>A - - - USH2A_000194 - PubMed: Mansard et al, 2021 - rs527236137 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG likely pathogenic g.215848243G>A - - - USH2A_000194 - PubMed: Mansard et al, 2021 - rs527236137 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - likely pathogenic g.215848243G>A g.215674901G>A USH2A, variant 1: c.13010C>T/p.T4337M, variant 2 :Deletion exon 23 - USH2A_000194 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 638 PubMed: Weisschuh 2020 Filing key number: 227, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - likely pathogenic g.215848243G>A g.215674901G>A USH2A, variant 1: c.13010C>T/p.T4337M, variant 2: c.13010C>T/p.T4337M - USH2A_000194 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 742 PubMed: Weisschuh 2020 Filing key number: 286, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 - likely pathogenic g.215848243G>A g.215674901G>A USH2A, variant 1: c.2299del/p.E767Sfs*21, variant 2: c.13010C>T/p.T4337M - USH2A_000194 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 868 PubMed: Weisschuh 2020 Filing key number: 359, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Unknown - likely pathogenic (recessive) g.215848243G>A - c.13010C>T - USH2A_000194 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Unknown - pathogenic (recessive) g.215848243G>A - c.13010C>T:p.T4337M - USH2A_000194 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 ACMG likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.Thr4337Met - USH2A_000194 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 33 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 ACMG likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.T4337M - USH2A_000194 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 59 PubMed: Zhu 2021 family 228, patient 59 M - China - - - - - 1 LOVD
+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 ACMG likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.T4337M - USH2A_000194 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease F29-1 PubMed: Zhu 2021 family 135, patient F29-1 M - China - - - - - 1 LOVD
+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Parent #1 ACMG likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.T4337M - USH2A_000194 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease F7-1 PubMed: Zhu 2021 family 134, patient F7-1 M - China - - - - - 1 LOVD
+?/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Parent #2 ACMG likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.T4337M - USH2A_000194 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 43524454 PubMed: Zhu 2021 family 169, patient 43524454 M - China - - - - - 1 LOVD
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Parent #2 - likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.(Thr4337Met) - USH2A_000194 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.13010C>T r.(?) p.(Thr4337Met) - Parent #2 - likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.(Thr4337Met) - USH2A_000194 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.13010C>T r.(?) p.(Thr4337Met) - Parent #2 ACMG likely pathogenic g.215848243G>A g.215674901G>A USH2A c.13010C>T, p.(Thr4337Met) - USH2A_000194 heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W19-0944 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. 63 c.13010C>T r.(?) p.(Thr4337Met) - Parent #2 - pathogenic g.215848243G>A - c.13010C>T - USH2A_000194 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - - - - - - - - - 1 Daan Panneman
+/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG pathogenic g.215848243G>A g.215674901G>A - - USH2A_000194 ACMG GN005 criteria: PM2_P PM3_VS PP1_P PubMed: Lenassi, E. et al., 2015; PubMed: Reurink, J. et al., 2021; PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Perez-Carro, R. et al., 2018; PubMed: Aller, E. et al., 2006; PubMed: Mansard, L. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Jauregui, R. et al., 2020; PubMed: Inaba, A. et al., 2020; PubMed: Huang, X. F. et al., 2015; PubMed: Neuhaus, C. et al., 2017 - rs527236137 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.13010C>T r.(?) p.(Thr4337Met) - Unknown ACMG likely pathogenic (recessive) g.215848243G>A g.215674901G>A - - USH2A_000194 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 143172 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-361 PubMed: Weisschuh 2024 patient, no family history F - 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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