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.

19 entries on 1 page. Showing entries 1 - 19.
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+?/? 22 c.4732C>T r.(?) p.(Arg1578Cys) Laminin G-like 1 (1517-1709) Unknown ACMG VUS g.216270451G>A g.216097109G>A - - USH2A_000528 Heterozygous; UV4 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls +BtsCI;+FokI;-AatII;-BsaHI;-BsmFI;-ZraI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 22 c.4732C>T r.(?) p.(Arg1578Cys) Laminin G-like 1 (1517-1709) Maternal (confirmed) ACMG VUS g.216270451G>A g.216097109G>A - - USH2A_000528 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/90 controls +BtsCI;+FokI;-AatII;-BsaHI;-BsmFI;-ZraI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Unknown - likely pathogenic g.216270451G>A g.216097109G>A USH2A(NM_206933.2):c.4732C>T (p.R1578C), USH2A(NM_206933.4):c.4732C>T (p.R1578C) - USH2A_000528 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4732C>T r.(?) p.(Arg1578Cys) - Unknown - pathogenic g.216270451G>A g.216097109G>A USH2A(NM_206933.2):c.4732C>T (p.R1578C), USH2A(NM_206933.4):c.4732C>T (p.R1578C) - USH2A_000528 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4732C>T r.(?) p.(Arg1578Cys) - Parent #1 - pathogenic (recessive) g.216270451G>A g.216097109G>A - - USH2A_000528 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease Fam11P14 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - 1 Sandro Banfi
+?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Unknown - likely pathogenic (recessive) g.216270451G>A - - - USH2A_000528 - PubMed: Jinda 2014 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - retinal disease - PubMed: Jinda 2014 - M ? Thailand ? - - - - 1 Stéphanie Cornelis
+/. - c.4732C>T r.(?) p.(Arg1578Cys) - Parent #1 ACMG pathogenic (recessive) g.216270451G>A g.216097109G>A - - USH2A_000528 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19274 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Parent #2 - likely pathogenic (recessive) g.216270451G>A g.216097109G>A - - USH2A_000528 - PubMed: Eandi 2017 - - Germline - - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam1PatTO1 PubMed: Eandi 2017 - F - Italy - - - - - 1 LOVD
+?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Unknown - likely pathogenic g.216270451G>A g.216097109G>A - - USH2A_000528 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007911 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 22 c.4732C>T r.(?) p.(Arg1578Cys) - Both (homozygous) ACMG pathogenic (recessive) g.216270451G>A - - - USH2A_000528 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing USH2A Pat19 PubMed: Bahena 2021 - M yes Iran - - - - - 2 Barbara Vona
+/. 22 c.4732C>T r.(?) p.(Arg1578Cys) - Unknown ACMG pathogenic g.216270451G>A g.216097109G>A NM_206933.2:c.4732C>T, NP_996816.2:p.(Arg1578Cys), NC_000001.10:g.216270451G>A - USH2A_000528 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082406 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Paternal (confirmed) ACMG likely pathogenic g.216270451G>A - - - USH2A_000528 - PubMed: Mansard et al, 2021 - rs201529124 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 22 c.4732C>T r.(?) p.(Arg1578Cys) - Unknown - likely pathogenic (recessive) g.216270451G>A - c.4732C>T - USH2A_000528 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Unknown - likely pathogenic g.216270451G>A - USH2A(NM_206933.2):c.4732C>T (p.R1578C), USH2A(NM_206933.4):c.4732C>T (p.R1578C) - USH2A_000528 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.4732C>T r.(?) p.(Arg1578Cys) - Parent #2 - pathogenic g.216270451G>A - c.4732C>T - USH2A_000528 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 22 c.4732C>T r.(?) p.(Arg1578Cys) - Both (homozygous) - pathogenic g.216270451G>A - c.4732C>T - USH2A_000528 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/+? 22 c.4732C>T r.(?) p.(Arg1578Cys) - Unknown ACMG likely pathogenic g.216270451G>A g.216097109G>A - - USH2A_000528 PM2_S, PM3_VS, PP3_S (following ClinGen GN005) - - rs201529124 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.4732C>T r.(4732c>u) p.(Arg1578Cys) - Parent #1 ACMG likely pathogenic g.216270451G>A g.216097109G>A - - USH2A_000528 no variant 2nd chromome PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP32 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
?/. - c.4732C>T r.(?) p.(Arg1578Cys) - Unknown ACMG VUS g.216270451G>A g.216097109G>A - - USH2A_000528 ACMG GN005 criteria: PM2_P PM3_S PubMed: Sun, T. et al., 2018; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Garcia Bohorquez, B. et al., 2021; PubMed: Bahena, P. et al., 2022; PubMed: Karali, M. et al., 2019; PubMed: Eandi, C. M. et al., 2017 - rs201529124 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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