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.

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 10 c.1663C>G r.(?) p.(Leu555Val) - Unknown - VUS g.216465694G>C g.216292352G>C - - USH2A_000182 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR, arrayCGH - - HD, MRKHS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1663C>G r.(?) p.(Leu555Val) - Unknown - likely benign g.216465694G>C g.216292352G>C USH2A(NM_206933.2):c.1663C>G (p.L555V), USH2A(NM_206933.4):c.1663C>G (p.L555V) - USH2A_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1663C>G r.(?) p.(Leu555Val) - Unknown - likely benign g.216465694G>C g.216292352G>C USH2A(NM_206933.2):c.1663C>G (p.L555V), USH2A(NM_206933.4):c.1663C>G (p.L555V) - USH2A_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Paternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/878 controls -MnlI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Maternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/878 controls -MnlI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Paternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/878 controls -MnlI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Maternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/878 controls -MnlI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA minigene, SEQ - - USH - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Paternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Maternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #2 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/200 controls -MnlI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #2 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/200 controls -MnlI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative F - Spain - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #2 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/200 controls -MnlI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Proband M - Spain - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #2 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Bernal 2003, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - 0/200 controls -MnlI - - DNA SEQ - - RPar - PubMed: Bernal 2003 Relative M - Spain - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #1 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Leroy 2001, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 - PubMed: Leroy 2001 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous; non pathogenic PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous; non pathogenic PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous; non pathogenic PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous; non pathogenic PubMed: Vozzi 2011, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Paternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Maternal (inferred) ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #1 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Sodi 2014, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #1 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Sodi 2014, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Parent #1 ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous PubMed: Sodi 2014, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/? 10 c.1663C>G r.(?) p.(Leu555Val) Laminin EGF-like 1 (518-574) Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 Heterozygous; pathogenic mutation PubMed: Pierrottet 2014, USMA missense analysis, missense variant in MSV3d - rs35818432 Germline - - -MnlI - - DNA SEQ - - USH2 P50 PubMed: Pierrottet 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
-?/. - c.1663C>G r.(?) p.(Leu555Val) - Unknown - likely benign g.216465694G>C g.216292352G>C USH2A(NM_206933.2):c.1663C>G (p.L555V), USH2A(NM_206933.4):c.1663C>G (p.L555V) - USH2A_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1663C>G r.(?) p.(Leu555Val) - Parent #1 - VUS g.216465694G>C g.216292352G>C - - USH2A_000182 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35818432 Germline - 2/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.1663C>G r.(?) p.(Leu555Val) - Unknown ACMG likely pathogenic g.216465694G>C - - - USH2A_000182 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1663C>G r.(?) p.(Leu555Val) - Parent #1 - VUS g.216465694G>C g.216292352G>C unknown variant 2n chromosome - USH2A_000182 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat38 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
?/. - c.1663C>G r.(?) p.(Leu555Val) - Unknown - VUS g.216465694G>C g.216292352G>C c.1663C>G, p.Leu555Val - USH2A_000182 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-1052 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 10 c.1663C>G r.(?) p.(Leu555Val) - Unknown - likely pathogenic g.216465694G>C - c.1663C>G - USH2A_000182 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
-?/. - c.1663C>G r.(?) p.(Leu555Val) - Unknown ACMG likely benign g.216465694G>C g.216292352G>C - - USH2A_000182 ACMG GN005 criteria: PP1_P BS1_P BS2_S PubMed: Colombo, L. et al., 2022 - rs35818432 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.