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.

65 entries on 1 page. Showing entries 1 - 65.
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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     
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Jinda 2014 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG - - retinal disease - PubMed: Jinda 2014 - F no Thailand Thai - - - - 1 Rob W.J. Collin
+?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Jinda 2014 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG - - retinal disease - PubMed: Jinda 2014 - F no Thailand Thai - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Paternal (inferred) - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Abd El-Aziz 2010 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 proband F no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Paternal (inferred) - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Abd El-Aziz 2010 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 - M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Paternal (inferred) - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Abd El-Aziz 2010 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 - F no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Abd El-Aziz 2010 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 - F ? China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.Cy2139Tyr - EYS_000023 unknown variant 2nd allele PubMed: Audo 2010 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Audo 2010 - M ? Belgium Flemish - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.Cy2139Tyr - EYS_000023 - PubMed: Audo 2010 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Audo 2010 - M ? France - - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Chen 2015 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Chen 2015 proband M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Chen 2015 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Chen 2015 - M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Paternal (confirmed) - VUS g.64940493C>T g.64230600C>T C2139Y + p.I1698T - EYS_000023 - PubMed: Gu 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Gu 2016 proband M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T c.6416G>A, p.C2139Y - EYS_000023 - PubMed: Huang 2015 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Huang 2015 - M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T c.6416G>A, p.C2139Y - EYS_000023 - PubMed: Huang 2015 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Huang 2015 - M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T c.6416G>A, p.C2139Y - EYS_000023 - PubMed: Huang 2015 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Huang 2015 - M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - VUS g.64940493C>T g.64230600C>T c.6416G>A, p.C2139Y - EYS_000023 - PubMed: Huang 2015 - - Germline yes ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Huang 2015 - M yes China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T PC2139Y - EYS_000023 - PubMed: Xu 2014 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Xu 2014 onset early childhood M no China Chinese - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.C2139Y - EYS_000023 - PubMed: Xu 2014 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Xu 2014 - F no China Chinese - - - - 1 Rob W.J. Collin
+/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - pathogenic (recessive) g.64940493C>T g.64230600C>T p.(Cys2139Tyr) - EYS_000023 - PubMed: Ge 2015 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG-I - - retinal disease U6H+2.34 PubMed: Ge 2015 - ? - United States - - - - - 1 Rob W.J. Collin
?/? 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T p.(Cys2139Tyr) - EYS_000023 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - ExAC: 1, 18960, 0, 0.00005274 - - - DNA SEQ-NG - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - VUS g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD12–05 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-097 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic (recessive) g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Jinda 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP019 PubMed: Jinda 2017 patient - - Thailand - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Parent #2 - likely pathogenic (recessive) g.64940493C>T g.64230600C>T - - EYS_000023 - PubMed: Jinda 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP011 PubMed: Jinda 2017 patient - - Thailand - - - - - 1 LOVD
+/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) ACMG pathogenic g.64940493C>T g.64230600C>T NM_001142800.1:c.6416G>A, NP_001136272.1:p.(Cys2139Tyr), NC_000006.11:g.64940493C>T - EYS_000023 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101012 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T c.6416G/A (p.C2139Y), c.5644+5G/A - EYS_000023 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T c.6416C>T, p.(Cys2139Tyr) - EYS_000023 error in annotation: c.6416C>T instead of G>A, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13329 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T c.6416C>T, p.(Cys2139Tyr) - EYS_000023 error in annotation: c.6416C>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
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic g.64940493C>T g.64230600C>T EYS:NM_001142800:exon31:c.6416G>A:p.C2139Y - EYS_000023 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F5-I-2 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic g.64940493C>T g.64230600C>T EYS:NM_001142800:exon31:c.6416G>A:p.C2139Y - EYS_000023 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F7-II-1 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T c.6416G>A, p.Cys2139Tyr - EYS_000023 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-1076 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T c.6416G>A, p.Cys2139Tyr - EYS_000023 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2906_004491 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG pathogenic g.64230600C>T g.64230600C>T EYS , p.Cys2139Tyr, heterozygous - EYS_000023 - 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 10 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Parent #1 - likely pathogenic g.64940493C>T g.64230600C>T EYS, variant 1: c.6416G>A/p.C2139Y, variant 2: c.6416G>A/p.C2139Y - EYS_000023 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1160 PubMed: Weisschuh 2020 Filing key number: 824, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic (recessive) g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F yes - - - - - - 1 LOVD
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic (recessive) g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic (recessive) g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)5304_5314del, V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F262 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7228+1G>A, V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 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.6416G>A r.(?) p.(Cys2139Tyr) Parent #1 ACMG pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[7228+1G>A], V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 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.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7228+1G>A, V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 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.6416G>A r.(?) p.(Cys2139Tyr) Parent #1 ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[7228+1G>A], V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 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.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7492G>C, V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F207 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7492G>C, V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F240 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)9073G>A, V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F304 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[?], V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F086 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[6416G>A], V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F147 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) ACMG likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[6416G>A], V1: c.6416G>A, (p.Cys2139Tyr) - EYS_000023 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F011 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic (recessive) g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: McGuigan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease P14 PubMed: McGuigan 2017 - M - - Chinese - - - - 1 LOVD
+?/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: Sengillio 2018 - rs749909863 Germline - 0.0001 - - - DNA SEQ-NG, SEQ peripheral whole blood lymphocytes - retinal disease P2 PubMed: Sengillio 2018 - M - (United States) - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[6416G>A]; p.(Cys2139Tyr) - EYS_000023 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F011 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Parent #1 - pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[7228+1G>A]; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F014 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7228+1G>A; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F023 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[?]; p.(Cys2139Tyr) - EYS_000023 heterozygous; single variant in a recessive gene, no second allele found PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F086 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Parent #1 - likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[7228+1G>A]; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F144 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Both (homozygous) - likely pathogenic g.64940493C>T g.64230600C>T EYS c.[6416G>A];[6416G>A]; p.(Cys2139Tyr) - EYS_000023 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F147 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7228+1G>A; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F180 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7492G>C; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F207 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)7492G>C; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F240 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)5304_5314del; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F262 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - likely pathogenic g.64940493C>T g.64230600C>T EYS c.6416G>A(;)9073G>A; p.(Cys2139Tyr) - EYS_000023 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.002966; GnomAD_exome_East: 0.00166; GnomAD_All: 0.000144 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F304 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Parent #2 - pathogenic g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 31 c.6416G>A r.(?) p.(Cys2139Tyr) Parent #1 - pathogenic g.64940493C>T - c.6416G>A - EYS_000023 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG pathogenic (recessive) g.64940493C>T g.64230600C>T - - EYS_000023 ACMG PP3, PM2, PM5, PP5_STRONG PubMed: Weisschuh 2024 189230 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1215 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown ACMG pathogenic (recessive) g.64940493C>T g.64230600C>T - - EYS_000023 ACMG PP3, PM2, PM5, PP5_STRONG; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1274 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.6416G>A r.(?) p.(Cys2139Tyr) Unknown - pathogenic g.64940493C>T - EYS(NM_001292009.2):c.6416G>A (p.C2139Y) - EYS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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