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.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Re-site     

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Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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Age at death     

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+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.K1450KfsX3 - EYS_000019 - PubMed: Littink 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 index patient F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.K1450KfsX3 - EYS_000019 - PubMed: Littink 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 - F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Both (homozygous) - pathogenic g.65301407_65301413del g.64591514_64591520del p.K1450KfsX3 - EYS_000019 - PubMed: Littink 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 index patient M no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.K1450KfsX3 - EYS_000019 unknown variant 2nd allele PubMed: Littink 2010 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 - - no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.K1450KfsX3 - EYS_000019 Mutation in EYS is not causative in this patient; unlikely pathogenic according to authors; unknown variant 2nd allele PubMed: Littink 2010 - - Germline no - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 index patient F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #2 - pathogenic g.65301407_65301413del g.64591514_64591520del p.I1451Pfs*3 - EYS_000019 - PubMed: Bonilha 2015 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Bonilha 2015 - F no - Scandinavian - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.I1451Pfs*3 - EYS_000019 unknown variant 2nd allele PubMed: Bonilha 2015 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Bonilha 2015 sister of donor 2, family 2, II-1, FFB #937 F no - Scandinavian - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.L1450LfsX4 - EYS_000019 - PubMed: Glöckle 2014 - - Germline - - - - - DNA SEQ-NG-S - - retinal disease - PubMed: Glöckle 2014 - ? ? - white - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Both (homozygous) - pathogenic g.65301407_65301413del g.64591514_64591520del p.L1450LfsX4 - EYS_000019 - PubMed: Glöckle 2014 - - Germline - - - - - DNA SEQ-NG-S - - retinal disease - PubMed: Glöckle 2014 - ? ? - white - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.Ile1451Profs*3 - EYS_000019 - PubMed: Eisenberger 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 - M no Austria - - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Maternal (confirmed) - pathogenic g.65301407_65301413del g.64591514_64591520del p.Ile1451Profs*3 - EYS_000019 - PubMed: Eisenberger 2014 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 index patient M no Germany - - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Maternal (confirmed) - pathogenic g.65301407_65301413del g.64591514_64591520del p.Ile1451Profs*3 - EYS_000019 - PubMed: Eisenberger 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 sibling of patient 93 F no Germany - - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.(Ile1451Profs*3) - EYS_000019 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease TW+H.97 PubMed: Ge 2015 - ? - United States ? - - - - 1 Rob W.J. Collin
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - pathogenic g.65301407_65301413del g.64591514_64591520del p.(Ile1451Profs*3) - EYS_000019 - 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
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.(Ile1451Profs*3) - EYS_000019 - 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
+/+ 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del p.(Ile1451Profs*3) - EYS_000019 - 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.4350_4356del r.(?) p.(Ile1451ProfsTer3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del EYS(NM_001142800.1):c.4350_4356delTATAGCT (p.I1451Pfs*3), EYS(NM_001292009.2):c.4350_4356delTATAGCT (p.I1451Pfs*3) - EYS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4350_4356del r.(?) p.(Ile1451ProfsTer3) Unknown - pathogenic g.65301407_65301413del g.64591514_64591520del EYS(NM_001142800.1):c.4350_4356delTATAGCT (p.I1451Pfs*3), EYS(NM_001292009.2):c.4350_4356delTATAGCT (p.I1451Pfs*3) - EYS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Both (homozygous) - VUS g.65301404_65301410del - c.4350_4356del - EYS_000019 - PubMed: Collin-2011 - - Germline - - - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - M - Netherlands - - - - - 1 LOVD
+/. 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown ACMG pathogenic g.65301407_65301413del g.64591514_64591520del c.4350_4356delTATAGCT, p.Ile1451Profs*3 - EYS_000019 Heterozygous PubMed: Birtel 2018 - rs761238771 Germline ? - - - - DNA SEQ blood - retinal disease 5 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown ACMG pathogenic g.65301407_65301413del g.64591514_64591520del EYS c.4350_4356del, p.(Ile1451Profs*3), c.232del, p.(Cys78Alafs*7), ABCA4 c.6148G>C, p.(Val2050Leu) - EYS_000019 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 118 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown ACMG likely pathogenic g.65301407_65301413del g.64591514_64591520del EYS c.350del, p.(Asn117Ilefs*14), c.4350_4356del, p.(Ile1451Profs*3), GPR98 c.3430C>T, p.(Arg1144*) - EYS_000019 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 123 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown ACMG pathogenic g.65301407_65301413del g.64591514_64591520del EYS c.4350_4356del, p.(Ile1451Profs*3), c.6714del, p.(Ile2239Serfs*17) - EYS_000019 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 127 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Unknown - likely pathogenic g.65301407_65301413del g.64591514_64591520del c.4350_4356del, p.Ile1451ProfsTer3 - EYS_000019 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI625_001288 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - likely pathogenic g.65301407_65301413del g.64591514_64591520del EYS, variant 1: c.4350_4356del/p.I1451Pfs*3, variant 2: c.4350_4356del/p.I1451Pfs*3 - EYS_000019 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 RET2 targeted sequencing panel - see paper retinal disease 552 PubMed: Weisschuh 2020 Filing key number: 198, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - likely pathogenic g.65301407_65301413del g.64591514_64591520del EYS, variant 1: c.4350_4356del/p.I1451Pfs*3, variant 2: c.232del/p.C78Afs*7 - EYS_000019 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 967 PubMed: Weisschuh 2020 Filing key number: 433, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - likely pathogenic g.65301407_65301413del g.64591514_64591520del EYS, variant 1: c.4350_4356del/p.I1451Pfs*3, variant 2: c.8408dup/p.N2803Kfs*9 - EYS_000019 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1096 PubMed: Weisschuh 2020 Filing key number: 733, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - likely pathogenic g.65301407_65301413del g.64591514_64591520del EYS, variant 1: c.4350_4356del/p.I1451Pfs*3, variant 2 :Deletion exon 9 - EYS_000019 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1111 PubMed: Weisschuh 2020 Filing key number: 753, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - likely pathogenic g.65301407_65301413del g.64591514_64591520del EYS, variant 1: c.4350_4356del/p.I1451Pfs*3, variant 2: c.4350_4356del/p.I1451Pfs*3 - EYS_000019 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 1216 PubMed: Weisschuh 2020 Filing key number: 951, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #1 - pathogenic g.65301404_65301410del - c.4350_4356del - EYS_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #2 - pathogenic g.65301404_65301410del - c.4350_4356del - EYS_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 26 c.4350_4356del r.(?) p.(Ile1451Profs*3) Parent #2 - pathogenic g.65301404_65301410del - c.4350_4356del - EYS_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.4350_4356del r.(?) p.(Ile1451ProfsTer3) Unknown ACMG pathogenic (recessive) g.65301407_65301413del g.64591514_64591520del - - EYS_000019 ACMG PM2, PVS1_MODERATE, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 195936 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-490 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.4350_4356del r.(?) p.(Ile1451ProfsTer3) Unknown ACMG pathogenic (recessive) g.65301407_65301413del g.64591514_64591520del - - EYS_000019 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 195936 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1215 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.4350_4356del r.(?) p.(Ile1451ProfsTer3) Paternal (confirmed) ACMG pathogenic (recessive) g.65301407_65301413del g.64591514_64591520del - - EYS_000019 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1179 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.4350_4356del r.(?) p.(Ile1451ProfsTer3) Unknown ACMG pathogenic (recessive) g.65301407_65301413del g.64591514_64591520del - - EYS_000019 ACMG PM2, PVS1; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1167 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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