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.

45 entries on 1 page. Showing entries 1 - 45.
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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     
+/. - c.12067-2A>G r.spl? p.? - Unknown - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 62 c.12067-2A>G r.spl? p.? - Parent #2 - likely pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - - - rs397517978 Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#14 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+/+ 61i c.12067-2A>G r.spl p.? - Parent #1 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Auslender 2008 - - Germline - 0/54 controls none - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Proband M - Uzbekistan - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Parent #1 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Auslender 2008 - - Germline - 0/54 controls none - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative M - Yemen - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Paternal (inferred) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Homozygous PubMed: Auslender 2008 - - Germline - 0/54 controls none - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Proband F - Uzbekistan - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Maternal (inferred) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Homozygous PubMed: Auslender 2008 - - Germline - 0/54 controls none - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Proband F - Uzbekistan - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Unknown - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Auslender 2008 - - Germline - 0/54 controls none - - DNA SEQ - - USH2 - PubMed: Auslender 2008 Relative F - Uzbekistan - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Parent #2 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Kaiserman 2007 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Kaiserman 2007 Proband F - Uzbekistan - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Parent #2 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Rivolta 2000 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Rivolta 2000 Proband - Genotype deduced from Sandberg et al., 2008 - - United States - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Parent #2 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Baux 2014 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Maternal (confirmed) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Baux 2014 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Maternal (confirmed) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Baux 2014 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Paternal (inferred) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Homozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 61i c.12067-2A>G r.spl p.? - Maternal (inferred) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Homozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 61i c.12067-2A>G r.spl p.? - Parent #2 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 61i c.12067-2A>G r.spl p.? - Unknown - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 61i c.12067-2A>G r.spl p.? - Parent #1 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Aparisi 2014 - - Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Parent #2 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous PubMed: Sodi 2014 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 61i c.12067-2A>G r.spl p.? - Paternal (inferred) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61i c.12067-2A>G r.spl p.? - Maternal (inferred) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 61i c.12067-2A>G r.spl p.? - Parent #1 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C - - - USH2A_000134 - 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.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C - - - USH2A_000134 - PubMed: Sharon 2019 - - Germline - 7/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 7 IRD families - - Israel - - - - - 7 Global Variome, with Curator vacancy
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C - - - USH2A_000134 - PubMed: Sharon 2019 - - Germline - 16/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 16 IRD families - - Israel - - - - - 16 Global Variome, with Curator vacancy
+/. - c.12067-2A>G r.spl p.? - Parent #1 - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat37 PubMed: Comander 2017 proband M - United States - - - - - 1 Johan den Dunnen
+/. 61i c.12067-2A>G r.spl? p.? - Both (homozygous) ACMG pathogenic (recessive) g.215853720T>C - - - USH2A_000134 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing USH2A Pat26 PubMed: Bahena 2021 - M yes Iran - - - - - 1 Barbara Vona
+/. - c.12067-2A>G r.spl p.? - Both (homozygous) - pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat80 PubMed: Neuhaus 2017 - - no - Jewish;Asia-C - - - - 1 LOVD
+/. - c.12067-2A>G r.spl p.(?) - Maternal (confirmed) - pathogenic g.215853720T>C g.215680378T>C M22: c.12067-2A > G; r.spl - USH2A_000134 - PubMed: Gonzalez del Pozo 2018 - - Germline yes - - - - DNA SEQ-NG blood solved retinal disease Q (II:4) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+/. - c.12067-2A>G r.spl p.(?) - Unknown - pathogenic g.215853720T>C g.215680378T>C USH2A c.12067-2A>G - USH2A_000134 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-163 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.12067-2A>G r.spl p.(?) - Unknown - pathogenic g.215853720T>C g.215680378T>C USH2A c.12067-2A>G - USH2A_000134 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2844_004429 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.12067-2A>G r.(?) p.(?) - Unknown ACMG pathogenic g.215853720T>C - - - USH2A_000134 - PubMed: Mansard et al, 2021 - rs397517978 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.12067-2A>G r.(?) p.(?) - Unknown ACMG pathogenic g.215853720T>C - - - USH2A_000134 - PubMed: Mansard et al, 2021 - rs397517978 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.12067-2A>G r.spl p.(?) - Parent #1 - likely pathogenic g.215853720T>C g.215680378T>C USH2A, variant 1: c.12067-2A>G/p.?, variant 2: c.10859T>C/p.I3620T - USH2A_000134 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1105 PubMed: Weisschuh 2020 Filing key number: 745, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. 61i c.12067-2A>G r.spl? p.? - Unknown - VUS g.215853720T>C - c.12067-2A>G - USH2A_000134 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Khalaileh-2018 - - yes Tunisia Jewish - - - - 1 LOVD
?/. 61i c.12067-2A>G r.spl? p.? - Unknown - VUS g.215853720T>C - c.12067-2A>G - USH2A_000134 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Khalaileh-2018 - - yes - Bucharian Jew - - - - 1 LOVD
+/. - c.12067-2A>G r.spl p.(?) - Parent #1 - pathogenic g.215853720T>C g.215680378T>C USH2A c.12067-2A>G, p.(?) - USH2A_000134 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 9 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+/. 61i c.12067-2A>G r.spl? p.(?) - Parent #2 - pathogenic g.215853720T>C - c.12067-2A>G - USH2A_000134 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 61i c.12067-2A>G r.spl p.? - Parent #1 ACMG pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease USH10 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG likely pathogenic g.215853720T>C - - - USH2A_000134 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-29874 rs397517978 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 4403355 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-48390 rs397517978 Germline yes - - - - DNA SEQ-NG-I Buccal swab - USH2A 2638009 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2355 rs121912599 Germline yes - - - - DNA SEQ-NG-I - - USH2A 2821331 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M likely Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2355 rs121912599 Germline yes - - - - DNA SEQ-NG-I - - USH2A 2898608 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2355 rs121912599 Germline yes - - - - DNA SEQ-NG-I - - USH2A 4560410 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - NONE 1 Rocio Villafuerte-de la Cruz
+/. - c.12067-2A>G r.spl p.? - Unknown ACMG pathogenic g.215853720T>C g.215680378T>C - - USH2A_000134 ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_P PubMed: Falsini, B. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Gonzalez-Del Pozo, M. et al., 2018; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Bahena, P. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Khalaileh, A. et al., 2018; PubMed: Weisschuh, N. et al., 2020 - rs397517978 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.12067-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.215853720T>C g.215680378T>C - - USH2A_000134 - PubMed: de Bruijn 2023 - - Germline - - - - - DNA SEQ-NG blood Published as WGS USH2 071482 PubMed: de Bruijn 2023 - - - - - - - - - 1 Suzanne de Bruijn
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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