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.

17 entries on 1 page. Showing entries 1 - 17.
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AscendingDNA change (cDNA)     

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?/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown - VUS g.215802242C>T g.215628900C>T USH2A(NM_206933.2):c.15433G>A (p.V5145I), USH2A(NM_206933.4):c.15433G>A (p.V5145I) - USH2A_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown - likely benign g.215802242C>T g.215628900C>T USH2A(NM_206933.2):c.15433G>A (p.V5145I), USH2A(NM_206933.4):c.15433G>A (p.V5145I) - USH2A_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 71 c.15433G>A r.(?) p.(Val5145Ile) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802242C>T g.215628900C>T - - USH2A_000253 Heterozygous; probably benign PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - rs111033269 Germline - - +SfaNI;-HgaI; - - DNA SEQ, SEQ-NG-S - - USH - PubMed: Glöcke 2013 Proband - - - - - - - - 1 Anne-Françoise Roux
-/? 71 c.15433G>A r.(?) p.(Val5145Ile) Cytoplasmic (5064-5202) Paternal (confirmed) ACMG likely benign g.215802242C>T g.215628900C>T - - USH2A_000253 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033269 Germline - 4/844 controls +SfaNI;-HgaI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 71 c.15433G>A r.(?) p.(Val5145Ile) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802242C>T g.215628900C>T - - USH2A_000253 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033269 Germline - - +SfaNI;-HgaI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/? 71 c.15433G>A r.(?) p.(Val5145Ile) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802242C>T g.215628900C>T - - USH2A_000253 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033269 Germline - - +SfaNI;-HgaI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/? 71 c.15433G>A r.(?) p.(Val5145Ile) Cytoplasmic (5064-5202) Unknown ACMG likely benign g.215802242C>T g.215628900C>T - - USH2A_000253 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033269 Germline - - +SfaNI;-HgaI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-?/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown - likely benign g.215802242C>T g.215628900C>T USH2A(NM_206933.2):c.15433G>A (p.V5145I), USH2A(NM_206933.4):c.15433G>A (p.V5145I) - USH2A_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.15433G>A r.(?) p.(Val5145Ile) - Parent #1 - likely pathogenic g.215802242C>T - - - USH2A_000253 - 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.15433G>A r.(?) p.(Val5145Ile) - Both (homozygous) - likely pathogenic (recessive) g.215802242C>T - - - USH2A_000253 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown - pathogenic (recessive) g.215802242C>T - 1:215802242C>T ENST00000307340.3:c.15433G>A (Val5145Ile) - USH2A_000253 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009000 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown - VUS g.215802242C>T g.215628900C>T - - USH2A_000253 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71161 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
?/. - c.15433G>A r.(?) p.(Val5145Ile) - Both (homozygous) ACMG VUS g.215802242C>T g.215628900C>T USH2A c.15433G>A, p.(Val5145Ile), c.15433G>A, p.(Val5145Ile) - USH2A_000253 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 480 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown - likely pathogenic g.215802242C>T g.215628900C>T USH2A c.15433G>A, p.Val5145Ile - USH2A_000253 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009000 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
-/. 71 c.15433G>A r.(15433g>a) p.(Val5145Ile) - Parent #1 ACMG benign g.215802242C>T g.215628900C>T - - USH2A_000253 no variant 2nd chromome PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP5 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
-/. 71 c.15433G>A r.(15433g>a) p.(Val5145Ile) - Parent #1 ACMG benign g.215802242C>T g.215628900C>T - - USH2A_000253 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH15 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
?/. - c.15433G>A r.(?) p.(Val5145Ile) - Unknown ACMG VUS g.215802242C>T g.215628900C>T - - USH2A_000253 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-907 PubMed: Weisschuh 2024 patient, no family history 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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