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.

21 entries on 1 page. Showing entries 1 - 21.
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AscendingDNA change (cDNA)     

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+/. - c.12343C>T r.(?) p.(Arg4115Cys) - Unknown - pathogenic g.215848910G>A g.215675568G>A USH2A(NM_206933.2):c.12343C>T (p.R4115C), USH2A(NM_206933.4):c.12343C>T (p.R4115C) - USH2A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12343C>T r.(?) p.(Arg4115Cys) - Unknown - VUS g.215848910G>A g.215675568G>A USH2A(NM_206933.2):c.12343C>T (p.R4115C), USH2A(NM_206933.4):c.12343C>T (p.R4115C) - USH2A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #2 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous; unknown PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband M - - - - - - - 1 Anne-Françoise Roux
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #1 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #2 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous PubMed: Van Wijk 2004, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - 0/188 controls +Tsp509I;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Unknown ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-?/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Paternal (inferred) ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-?/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Maternal (inferred) ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #2 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous; unknown PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Unknown ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Unknown ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #1 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous; unknown 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
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #1 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous; unknown PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #1 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Homozygous; unknown PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
-/? 63 c.12343C>T r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) Parent #2 ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Homozygous; unknown PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
?/. - c.12343C>T r.(?) p.(Arg4115Cys) - Unknown - VUS g.215848910G>A - USH2A(NM_206933.2):c.12343C>T (p.R4115C), USH2A(NM_206933.4):c.12343C>T (p.R4115C) - USH2A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12343C>T r.(?) p.(Arg4115Cys) - Unknown - VUS g.215848910G>A g.215675568G>A - - USH2A_000050 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case25939 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. 63 c.12343C>T r.(?) p.(Arg4115Cys) - Unknown - likely pathogenic g.215848910G>A g.215675568G>A EYS IVS33 c.6725+4del p.(?), Ex.43 c.8249T>A p.(Ile2750Asn), USH2A: Ex.63 c.12343C>T p.(Arg4115Cys) - USH2A_000050 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2306 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.12343C>T r.(?) p.(Arg4115Cys) - Parent #1 - likely pathogenic g.215848910G>A g.215675568G>A USH2A c.12343C>T, p.R4115C - USH2A_000050 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 135 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
?/. 63 c.12343C>T r.(12343c>u) p.(Arg4115Cys) - Parent #1 ACMG VUS g.215848910G>A g.215675568G>A - - USH2A_000050 no variant 2nd chromome PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP38 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
-?/. - c.12343C>T r.(?) p.(Arg4115Cys) - Unknown ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 ACMG GN005 criteria: BP2_P PubMed: Bonnet, C. et al., 2016; PubMed: Ganapathi, M. et al., 2022; PubMed: Jauregui, R. et al., 2020 - rs111033275 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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