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.

39 entries on 1 page. Showing entries 1 - 39.
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+?/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: de Castro-Miró 2014 - - Germline - - - - - DNA SEQ-NG-I Whole blood - USH2A - PubMed: de Castro-Miró 2014 - M no Spain - - - - - 1 Marta de Castro-Miró
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A USH2A(NM_206933.4):c.12574C>T (p.R4192C) - USH2A_000715 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 63 c.12574C>T r.1257C>T p.Arg4192Cys - Unknown - likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - - - - Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#19 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/? 63 c.12574C>T r.(?) p.(Arg4192Cys) Fibronectin type-III 27 (4154-4258) Unknown ACMG VUS g.215848679G>A g.215675337G>A - - USH2A_000715 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/92 controls +HpyCH4V;-HinfI;-TfiI;-XmnI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 63 c.12574C>T r.(?) p.(Arg4192Cys) Fibronectin type-III 27 (4154-4258) Paternal (inferred) ACMG VUS g.215848679G>A g.215675337G>A - - USH2A_000715 Heterozygous; Pathogenic PubMed: Corton 2013, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V;-HinfI;-TfiI;-XmnI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Corton 2013 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+?/? 63 c.12574C>T r.(?) p.(Arg4192Cys) Fibronectin type-III 27 (4154-4258) Paternal (inferred) ACMG VUS g.215848679G>A g.215675337G>A - - USH2A_000715 Heterozygous; Pathogenic PubMed: Corton 2013, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V;-HinfI;-TfiI;-XmnI; - - DNA SEQ - - RPar - PubMed: Corton 2013 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+?/? 63 c.12574C>T r.(?) p.(Arg4192Cys) Fibronectin type-III 27 (4154-4258) Paternal (inferred) ACMG VUS g.215848679G>A g.215675337G>A - - USH2A_000715 Heterozygous; Pathogenic PubMed: Corton 2013, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V;-HinfI;-TfiI;-XmnI; - - DNA SEQ - - RPar - PubMed: Corton 2013 Relative F - Spain - - - - - 1 Anne-Françoise Roux
+?/? 63 c.12574C>T r.(?) p.(Arg4192Cys) Fibronectin type-III 27 (4154-4258) Parent #2 ACMG VUS g.215848679G>A g.215675337G>A - - USH2A_000715 Heterozygous; mutation PubMed: de Castro-Miro 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +HpyCH4V;-HinfI;-TfiI;-XmnI; - - DNA PE, SEQ - APEX USH2 - PubMed: de Castro-Miro 2014 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+?/? 63 c.12574C>T r.(?) p.(Arg4192Cys) Fibronectin type-III 27 (4154-4258) Parent #2 ACMG VUS g.215848679G>A g.215675337G>A - - USH2A_000715 Heterozygous PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A USH2A(NM_206933.4):c.12574C>T (p.R4192C) - USH2A_000715 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic (recessive) g.215848679G>A - 1:215848679G>A ENST00000307340.3:c.12574C>T (Arg4192Cys) - USH2A_000715 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007671 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - pathogenic (recessive) g.215848679G>A - 1:215848679G>A ENST00000307340.3:c.12574C>T (Arg4192Cys) - USH2A_000715 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000991 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1855 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Both (homozygous) - likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/21 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Both (homozygous) - pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD034 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12006031 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12015280 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.12574C>T r.(?) p.(Arg4192Cys) - Both (homozygous) - pathogenic (recessive) g.215848679G>A g.215675337G>A 12574G>A - USH2A_000715 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-278-603 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Both (homozygous) - likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam6 PubMed: Coppieters 2014 see paper - yes Belgium - - - - - 1 LOVD
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - pathogenic g.215848679G>A - c.12574C.T - USH2A_000715 - PubMed: Corton-2013 - - Germline - - - - - DNA SEQ-NG blood WES retinal disease P-08-0177 PubMed: Corton-2013 - - no - Spanish - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown ACMG likely pathogenic g.215848679G>A g.215675337G>A USH2A c.12574C>T, p.(Arg4192Cys) - USH2A_000715 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 481 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A M12: c.12574 C > T; p.Arg4192Cys - USH2A_000715 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood solved retinal disease G (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA PE - - retinal disease 5ORG PubMed: de Castro-Miró-2014 - - - - - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown ACMG likely pathogenic g.215848679G>A - - - USH2A_000715 - PubMed: Mansard et al, 2021 - rs750396156 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Parent #1 - likely pathogenic g.215848679G>A g.215675337G>A USH2A, variant 1: c.12574C>T/p.R4192C, variant 2: c.176G>A/p.G59E - USH2A_000715 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 740 PubMed: Weisschuh 2020 Filing key number: 286, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Parent #1 - likely pathogenic g.215848679G>A g.215675337G>A USH2A, variant 1: c.12574C>T/p.R4192C, variant 2: c.176G>A/p.G59E - USH2A_000715 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 741 PubMed: Weisschuh 2020 Filing key number: 286, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Parent #1 - likely pathogenic g.215848679G>A g.215675337G>A USH2A, variant 1: c.12574C>T/p.R4192C, variant 2: c.14219C>A/p.A4740D - USH2A_000715 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1243 PubMed: Weisschuh 2020 Filing key number: 1012, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic g.215848679G>A g.215675337G>A USH2A c.12574C>T, p.Arg4192Cys - USH2A_000715 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000991 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Unknown - likely pathogenic (recessive) g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: Colombo-2020 - rs750396156 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.12574C>T r.(?) p.(Arg4192Cys) - Parent #2 - likely pathogenic g.215848679G>A g.215675337G>A USH2A c.12574C>T, p.(Arg4192Cys) - USH2A_000715 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) retinal disease 15017064 PubMed: Molina-Ramirez 2020 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Parent #2 - pathogenic g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Parent #2 - pathogenic g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Parent #2 - pathogenic g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Parent #2 - pathogenic g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 63 c.12574C>T r.(?) p.(Arg4192Cys) - Parent #2 - pathogenic g.215848679G>A - c.12574C>T - USH2A_000715 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. 63 c.12574C>T r.(12574c>u) p.(Arg4192Cys) - Parent #1 ACMG likely pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 - PubMed: de Bruijn 2023, PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease 073243;arRP20 PubMed: de Bruijn 2023, PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown ACMG pathogenic g.215848679G>A g.215675337G>A - - USH2A_000715 ACMG GN005 criteria: PS4_S PM2_P PM3_S PP1_P PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Bonnet, C. et al., 2016; PubMed: Perez-Carro, R. et al., 2018; PubMed: Gonzalez-Del Pozo, M. et al., 2018; PubMed: Colombo, L. et al., 2022; PubMed: Ganapathi, M. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021 - rs750396156 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown ACMG pathogenic (recessive) g.215848679G>A g.215675337G>A - - USH2A_000715 ACMG PS1, PM2, PM5, PS4_MODERATE PubMed: Weisschuh 2024 281818 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-286 PubMed: Weisschuh 2024 family, 3 affected M - Germany - - - - - 3 Johan den Dunnen
+/. - c.12574C>T r.(?) p.(Arg4192Cys) - Unknown ACMG pathogenic (recessive) g.215848679G>A g.215675337G>A - - USH2A_000715 ACMG PS1, PM2, PM5, PS4_MODERATE; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-454 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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