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.

244 entries on 3 pages. Showing entries 1 - 100.
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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     
+/. 2 c.141_142dup r.(?) p.(Lys48Argfs*98) - Unknown ACMG pathogenic g.216595538_216595539dup g.216422196_216422197dup USH2A c.142_143insGA, p.(Lys48Argfs*98) - USH2A_000742 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Panel 3 containing 78 genes retinal disease 3 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.141_142dup r.(?) p.(Lys48Argfs*98) - Unknown - likely pathogenic g.216595538_216595539dup g.216422196_216422197dup USH2A(NM_206933.2):c.142_143insGA(p.K48Rfs*98)/c.2802T>G(p.C934W) - USH2A_000742 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 204 - - - DNA SEQ-NG-I blood - ? WHP104 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.141_142dup r.(?) p.(Lys48ArgfsTer98) - Unknown ACMG pathogenic g.216595538_216595539dup g.216422196_216422197dup 141_142dupGA - USH2A_000742 ACMG GN005 criteria: PVS1_VS PM2_P PM3_P PubMed: Dan, H. et al., 2020 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #1 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - 2/200 controls -HincII;-Hpy166II; - - DNA PCRdig, SEQ - - RPar - PubMed: Xu 2011 Proband F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #1 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - 2/200 controls -HincII;-Hpy166II; - - DNA SEQ - - RPar - PubMed: Xu 2011 Relative F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #1 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - 2/200 controls -HincII;-Hpy166II; - - DNA SEQ - - RPar - PubMed: Xu 2011 Relative F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #1 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - 2/200 controls -HincII;-Hpy166II; - - DNA SEQ - - RPar - PubMed: Xu 2011 Relative F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #1 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; mutation PubMed: Zheng 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Zheng 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Maternal (confirmed) ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; mutation PubMed: Zheng 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Zheng 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Maternal (confirmed) ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; mutation PubMed: Zheng 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Zheng 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #2 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Paternal (inferred) ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Homozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Maternal (inferred) ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Homozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #2 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - -HincII;-Hpy166II; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/? 13 c.2802T>G r.(?) p.(Cys934Trp) Laminin EGF-like 8 (900-950) Parent #2 ACMG likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs201527662 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201527662 Germline - 23/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 23 Yoshito Koyanagi
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201527662 Germline - 8/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG likely pathogenic (recessive) g.216419934A>C - - - USH2A_000742 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG likely pathogenic g.216419934A>C - - - USH2A_000742 - 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.2802T>G r.(?) p.(Cys934Trp) - Unknown - pathogenic (recessive) g.216419934A>C - 1:216419934A>C ENST00000307340.3:c.2802T>G (Cys934Trp) - USH2A_000742 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008167 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-East - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic (recessive) g.216419934A>C - 1:216419934A>C ENST00000307340.3:c.2802T>G (Cys934Trp) - USH2A_000742 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006007 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-East - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19116 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19124 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19381 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19407 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19623 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19415 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19299 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19836 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19399 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 ACMG pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19765 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-063 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP063 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - likely pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT739 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP238 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP377 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP275 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP219 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP315 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - rs201527662 Germline - 7/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP205 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP385 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - pathogenic (recessive) g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Zaneveld 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat62 PubMed: Zaneveld 2015 - - - Canada - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - likely pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W99-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6328 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K1766 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K2003 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K2069 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6184 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - pathogenic g.216419934A>C g.216246592A>C - - USH2A_000742 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6269 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - USH IR_SS_0019 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0001 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0015 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0024 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - USH IR_GH_0065 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0083 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016060112 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082403 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016090201 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016091201 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101102 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016102412 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016103102 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016112103 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016112809 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121202 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216419934A>C g.216246592A>C NM_206933.2:c.2802T>G, NP_996816.2:p.(Cys934Trp), NC_000001.10:g.216419934A>C - USH2A_000742 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2017010404 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG VUS g.216419934A>C - - - USH2A_000742 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0186 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C USH2A c.2802T>G, p.C934W - USH2A_000742 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) - likely pathogenic g.216419934A>C g.216246592A>C c.2802T>G, p.Cys934Trp - USH2A_000742 homozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD17031959_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C c.2802T>G, p.Cys934Trp - USH2A_000742 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070904_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) - likely pathogenic g.216419934A>C g.216246592A>C c.2802T>G, p.Cys934Trp - USH2A_000742 homozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18081727_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C c.2802T>G, p.Cys934Trp - USH2A_000742 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070025_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C c.2802T>G, p.Cys934Trp - USH2A_000742 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184151_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C c.2802A>C, p.( Cys934Trp) - USH2A_000742 error in annotation: c.2802A>C instead of T>G, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13012 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - likely pathogenic g.216419934A>C g.216246592A>C USH2A:NM_206933:exon13:c.2802T>G:p.C934W - USH2A_000742 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F12-II-3 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - likely pathogenic g.216419934A>C g.216246592A>C USH2A:NM_206933:exon13:c.2802T>G:p.C934W - USH2A_000742 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F8-II-3 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - likely pathogenic g.216419934A>C g.216246592A>C USH2A:NM_206933:exon13:c.2802T>G:p.C934W - USH2A_000742 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F23-II-5 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C USH2A c.2802T>G, p.(Cys934Trp) - USH2A_000742 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 5 containing 429 genes retinal disease 113 PubMed: Dan 2020 - F ? China - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C USH2A c.2802T>G, p.(Cys934Trp) - USH2A_000742 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Panel 3 containing 78 genes retinal disease 3 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C c.2802T>G, p.Cys934Trp - USH2A_000742 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2943_004528 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #2 - likely pathogenic g.216419934A>C g.216246592A>C USH2A c.2802T>G, p.C934W - USH2A_000742 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 129 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216246592A>C g.72264997del USH2A c.2802T > G, p.Cys934Trp, heterozygous - USH2A_000742 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 11 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216246592A>C g.216246592A>C USH2A c.2802T > G, p.Cys934Trp, heterozygous - USH2A_000742 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 18 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG pathogenic g.216246592A>C g.216246592A>C USH2A c.2802T > G, p.Cys934Trp, heterozygous - USH2A_000742 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 22 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C - c.2802T>G p.(Cys934Trp) - USH2A_000742 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15001263 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Parent #1 - likely pathogenic g.216419934A>C g.216246592A>C USH2A, variant 1: c.2802T>G/p.C934W, variant 2: c.8638_8641dup/p.S2881Lfs*9 - USH2A_000742 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 863 PubMed: Weisschuh 2020 Filing key number: 356, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C USH2A c.2802T>G, p.Cys934Trp - USH2A_000742 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008167 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) - likely pathogenic g.216419934A>C g.216246592A>C USH2A p.(Cys934Trp) - USH2A_000742 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-294 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C USH2A p.(Cys934Trp) - USH2A_000742 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-75 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C USH2A p.(Cys934Trp) - USH2A_000742 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-753 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic g.216419934A>C g.216246592A>C USH2A p.(Cys934Trp) - USH2A_000742 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-109 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C USH2A c.T2802G, p.C934W - USH2A_000742 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 35 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. - c.2802T>G r.(?) p.(Cys934Trp) - Unknown ACMG likely pathogenic g.216419934A>C g.216246592A>C USH2A c.T2802G, p.C934W - USH2A_000742 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 131 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic (recessive) g.216419934A>C - c.2802T>G - USH2A_000742 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic (recessive) g.216419934A>C - c.2802T>G - USH2A_000742 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Both (homozygous) - likely pathogenic (recessive) g.216419934A>C - c.2802T>G - USH2A_000742 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 13 c.2802T>G r.(?) p.(Cys934Trp) - Unknown - likely pathogenic (recessive) g.216419934A>C - c.2802T>G - USH2A_000742 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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