Full data view for gene EYS

This database is one of the "Eye disease" gene variant databases. When using this database, please refer to Messchaert et al. 2018.
Information The variants shown are described using the NM_001142800.1 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/+ 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown - pathogenic g.64431273_64431280del g.63721377_63721384del p.T2904KfsX4 - EYS_000071 - PubMed: Littink 2010 - - Germline yes ExAC: 10, 22498, 0, 0.0004445 - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 index patient F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown - pathogenic g.64431273_64431280del g.63721377_63721384del p.T2904KfsX4 - EYS_000071 - PubMed: Littink 2010 - - Germline yes ExAC: 10, 22498, 0, 0.0004445 - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 - F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown - pathogenic g.64431273_64431280del g.63721377_63721384del p.(Thr2883Lysfs*4) - EYS_000071 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - CORD - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+?/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Parent #1 - likely pathogenic g.64431273_64431280del g.63721377_63721384del NM_001292009.1:c.8711_8718del - EYS_000071 - 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.8648_8655del r.(?) - Parent #1 - pathogenic (!) g.64431273_64431280del g.63721377_63721384del - - EYS_000071 upstream stop codon same allele PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat15 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Parent #1 - pathogenic (!) g.64431273_64431280del g.63721377_63721384del c.8648_8654del8 - EYS_000071 upstream stop codon same allele PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat32 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.8648_8655del r.(?) - Parent #1 - pathogenic (!) g.64431273_64431280del g.63721377_63721384del .8648_8655del8 - EYS_000071 upstream stop codon same allele PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat13 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Parent #1 - pathogenic (!) g.64431273_64431280del g.63721377_63721384del 8648_8655del8 - EYS_000071 upstream stop codon same allele PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat14 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+?/. 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Both (homozygous) - likely pathogenic g.64431272_64431279del - c.8648_8655del8 - EYS_000071 Check also: Avela 2018 PubMed: Avela 2019 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+/. 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown ACMG pathogenic g.64431273_64431280del g.63721377_63721384del c.8648_8655delCATGCAGA, p.Thr2883Lysfs*4 - EYS_000071 Heterozygous PubMed: Birtel 2018 - rs528919874 Germline ? - - - - DNA SEQ blood - retinal disease 8 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown ACMG pathogenic g.64431273_64431280del g.63721377_63721384del EYS c.8054G>A, p.(Gly2685Glu), c.8648_8655del, p.(Thr2883Lysfs*4) - EYS_000071 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 117 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown ACMG pathogenic g.64431273_64431280del g.63721377_63721384del EYS c.8648_8655del, p.(Thr2883Lysfs*4), c.6714del, p.(Ile2239Serfs*17) - EYS_000071 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 125 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown ACMG pathogenic g.64431273_64431280del g.63721377_63721384del EYS c.8648_8655del, p.(Thr2883Lysfs*4), c.6714del, p.(Ile2239Serfs*17) - EYS_000071 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 133 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown ACMG likely pathogenic g.64431273_64431280del g.63721377_63721384del USH2A c.2276G>T, p.(Cys759Phe), c.9799T>C, p.(Cys3267Arg), EYS c.8648_8655del, p.(Thr2883Lysfs*4) - EYS_000071 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 293 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown - VUS g.64431273_64431280del g.63721377_63721384del EYS c.8648_8655del, p.Thr2883LysfsTer4 - EYS_000071 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-001 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Parent #1 - likely pathogenic g.64431273_64431280del g.63721377_63721384del EYS c.8648_8655del, p.T2883KfsX4 - EYS_000071 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 74 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Parent #1 - likely pathogenic g.64431273_64431280del g.63721377_63721384del EYS, variant 1: c.8648_8655del/p.T2883Lfs*4, variant 2: c.7228G>T/p.A2410S - EYS_000071 error in annotation, protein change should bep.(Thr2883Lysfs*4) and not p.(Thr2883Leufs*4), nucleotide variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 135 PubMed: Weisschuh 2020 Filing key number: 59, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Both (homozygous) - likely pathogenic g.64431273_64431280del g.63721377_63721384del EYS c.8648_8655del8 - EYS_000071 no protein annotation; homozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 8 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+?/. 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Parent #2 - likely pathogenic (recessive) g.64431272_64431279del - c.8648_8655delCATGCAGA - EYS_000071 - PubMed: McGuigan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease P1 PubMed: McGuigan 2017 - F - - Russian/Ukrainian - - - - 1 LOVD
+?/. 43 c.8648_8655del r.(?) p.(Thr2883Lysfs*4) Unknown - likely pathogenic g.64431272_64431279del - c.8648_8655delCATGCAGA - EYS_000071 - PubMed: Sengillio 2018 - rs528919874 Germline - 0.0008 - - - DNA SEQ-NG, SEQ peripheral whole blood lymphocytes - retinal disease P3 PubMed: Sengillio 2018 - M - (United States) - - - - - 1 LOVD
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