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.

20 entries on 1 page. Showing entries 1 - 20.
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?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - VUS g.216243634G>C g.216070292G>C USH2A(NM_206933.2):c.5858C>G (p.A1953G), USH2A(NM_206933.4):c.5858C>G (p.A1953G) - USH2A_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 30 c.5858C>G r.(?) p.(Ala1953Gly) - Paternal (inferred) ACMG likely benign g.216243634G>C g.216070292G>C - - USH2A_000342 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41302239 Germline - 1/874 controls +Hpy166II;+Sau96I;+AvaII;-AluI;-CviKI_1; - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 30 c.5858C>G r.(?) p.(Ala1953Gly) - Unknown ACMG likely benign g.216243634G>C g.216070292G>C - - USH2A_000342 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41302239 Germline - 1/874 controls +Hpy166II;+Sau96I;+AvaII;-AluI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 30 c.5858C>G r.(?) p.(Ala1953Gly) - Unknown ACMG likely benign g.216243634G>C g.216070292G>C - - USH2A_000342 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41302239 Germline - - +Hpy166II;+Sau96I;+AvaII;-AluI;-CviKI_1; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/? 30 c.5858C>G r.(?) p.(Ala1953Gly) - Unknown ACMG likely benign g.216243634G>C g.216070292G>C - - USH2A_000342 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41302239 Germline - - +Hpy166II;+Sau96I;+AvaII;-AluI;-CviKI_1; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/? 30 c.5858C>G r.(?) p.(Ala1953Gly) - Unknown ACMG likely benign g.216243634G>C g.216070292G>C - - USH2A_000342 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41302239 Germline - - +Hpy166II;+Sau96I;+AvaII;-AluI;-CviKI_1; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - pathogenic g.216243634G>C g.216070292G>C - - USH2A_000342 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs41302239 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - VUS g.216243634G>C g.216070292G>C USH2A(NM_206933.2):c.5858C>G (p.A1953G), USH2A(NM_206933.4):c.5858C>G (p.A1953G) - USH2A_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Parent #1 - likely pathogenic g.216243634G>C - - - USH2A_000342 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - likely pathogenic (recessive) g.216243634G>C - 1:216243634G>C ENST00000307340.3:c.5858C>G (Ala1953Gly) - USH2A_000342 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G005067 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - VUS g.216243634G>C g.216070292G>C - - USH2A_000342 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam14PatTO18 PubMed: Eandi 2017 - M - Italy - - - - - 1 LOVD
+/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - pathogenic g.216243634G>C g.216070292G>C - - USH2A_000342 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat37 PubMed: Comander 2017 proband M - United States - - - - - 1 Johan den Dunnen
?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - VUS g.216243634G>C g.216070292G>C - - USH2A_000342 - PubMed: Wang 2014 - rs41302239 Germline - - - - - DNA SEQ-NG, PCR, SEQ - - retinal disease 32 PubMed: Wang 2014 - F ? United States - - - - - 1 Muhammad Ajmal
+?/. 30 c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - likely pathogenic g.216243634G>C g.216070292G>C USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.30 c.5858C>G p.(Ala1953Gly) - USH2A_000342 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-0812 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 30 c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - likely pathogenic (recessive) g.216243634G>C - c.5858C>G - USH2A_000342 - PubMed: Colombo-2020 - rs41302239 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - likely pathogenic g.216243634G>C g.216070292G>C USH2A c.5858C>G, A1953G - USH2A_000342 heterozygous PubMed: Chebil 2016 - - Unknown ? - - - - DNA arraySNP, SEQ - - retinal disease Family ? PubMed: Chebil 2016 4 patients, 1 family ? - France Tunisia - - - - 1 LOVD
?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown - VUS g.216243634G>C - USH2A(NM_206933.2):c.5858C>G (p.A1953G), USH2A(NM_206933.4):c.5858C>G (p.A1953G) - USH2A_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 30 c.5858C>G r.(5858c>g) p.(Ala1953Gly) - Parent #1 ACMG VUS g.216243634G>C g.216070292G>C - - USH2A_000342 no variant 2nd chromome PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP35 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Paternal (confirmed) - likely pathogenic g.216243634G>C g.216070292G>C c.5858C>G (A1953G) - USH2A_000342 - PubMed: Sajan 2019 - - Germline - - - - - DNA SEQ-NG - trio WES RLSDF Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - 1 Johan den Dunnen
-?/. - c.5858C>G r.(?) p.(Ala1953Gly) - Unknown ACMG likely benign g.216243634G>C g.216070292G>C - - USH2A_000342 ACMG GN005 criteria: BS1_P BS2_S BP4_P PubMed: Colombo, L. et al., 2022; PubMed: Ganapathi, M. et al., 2022 - rs41302239 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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