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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/+ 36i c.7228+1G>A r.(?) p.? Maternal (confirmed) - pathogenic g.64574078C>T g.63864185C>T p.A2410Gfs*4 - EYS_000026 - PubMed: Gu 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Gu 2016 proband F no China Chinese - - - - 1 Rob W.J. Collin
+/+ 36i c.7228+1G>A r.(?) p.? Unknown - pathogenic g.64574078C>T g.63864185C>T p.A2410Gfs*4 - EYS_000026 - PubMed: Gu 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Gu 2016 proband F no China Chinese - - - - 1 Rob W.J. Collin
+/+ 36i c.7228+1G>A r.spl p.? Parent #2 - pathogenic g.64574078C>T g.63864185C>T p.? - EYS_000026 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 36i c.7228+1G>A r.(?) p.? Unknown - pathogenic g.64574078C>T g.63864185C>T p.? - EYS_000026 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/. - c.7228+1G>A r.spl? p.? Unknown - pathogenic g.64574078C>T g.63864185C>T EYS(NM_001292009.2):c.7228+1G>A - EYS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7228+1G>A r.spl? p.? Unknown - pathogenic g.64574078C>T - EYS(NM_001292009.2):c.7228+1G>A - EYS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7228+1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.64574078C>T g.63864185C>T - - EYS_000026 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP288 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Unknown - pathogenic g.64574078C>T g.63864185C>T c.7228+1C>T, p.? - EYS_000026 error in annotation: c.7228+1C>T instead of G>A, compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13411 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 36i c.7228+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.64574078C>T - c.7228+1G>A - EYS_000026 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 36i c.7228+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.64574078C>T - c.7228+1G>A - EYS_000026 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Unknown - pathogenic g.64574078C>T g.63864185C>T EYS c.7228+1G>A, interferes with splicing - EYS_000026 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP2 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Unknown ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.334G>C(;)7228+1G>A, V1: c.7228+1G>A, - EYS_000026 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F083 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Unknown ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.7228+1G>A(;)8012T>A, V1: c.7228+1G>A, - EYS_000026 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F005 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Both (homozygous) ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.[7228+1G>A];[7228+1G>A], V1: c.7228+1G>A, - EYS_000026 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F281 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Unknown ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.6416G>A(;)7228+1G>A, V2: c.7228+1G>A, - EYS_000026 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F023 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Parent #2 ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.[6416G>A];[7228+1G>A], V2: c.7228+1G>A, - EYS_000026 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F014 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Unknown ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.6416G>A(;)7228+1G>A, V2: c.7228+1G>A, - EYS_000026 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F180 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.(?) Parent #2 ACMG pathogenic g.64574078C>T g.63864185C>T EYS c.[6416G>A];[7228+1G>A], V2: c.7228+1G>A, - EYS_000026 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F144 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Unknown - pathogenic g.64574078C>T g.63864185C>T EYS c.7228+1G>A(;)8012T>A; p.? - EYS_000026 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F005 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Parent #2 - pathogenic g.64574078C>T g.63864185C>T EYS c.[6416G>A];[7228+1G>A]; p.? - EYS_000026 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F014 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Unknown - pathogenic g.64574078C>T g.63864185C>T EYS c.6416G>A(;)7228+1G>A; p.? - EYS_000026 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F023 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Unknown - pathogenic g.64574078C>T g.63864185C>T EYS c.334G>C(;)7228+1G>A; p.? - EYS_000026 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F083 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Parent #2 - pathogenic g.64574078C>T g.63864185C>T EYS c.[6416G>A];[7228+1G>A]; p.? - EYS_000026 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F144 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Unknown - pathogenic g.64574078C>T g.63864185C>T EYS c.6416G>A(;)7228+1G>A; p.? - EYS_000026 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F180 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.7228+1G>A r.spl p.? Both (homozygous) - pathogenic g.64574078C>T g.63864185C>T EYS c.[7228+1G>A];[7228+1G>A]; p.? - EYS_000026 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.000337; GnomAD_All: 0.0000267 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F281 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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