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.

47 entries on 1 page. Showing entries 1 - 47.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ID_report     

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+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic g.64776242del g.64066349del p.Pro2238ProfsX16 - EYS_000137 - PubMed: Collin 2008 - - Germline - - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Collin 2008 - F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic g.64776242del g.64066349del p.P2238PfsX16 - EYS_000137 - PubMed: Littink 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 index patient M no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic g.64776242del g.64066349del p.I2239SfsX17 - EYS_000137 - PubMed: Barragán 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - F yes Spain Spanish - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Maternal (confirmed) - pathogenic g.64776242del g.64066349del p.P2238PfsX16 - EYS_000137 - PubMed: Katagiri 2014 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic g.64776242del g.64066349del p.P2238PfsX16 - EYS_000137 - PubMed: Glöckle 2014 - - Germline - - - - - DNA SEQ-NG-S - - retinal disease - PubMed: Glöckle 2014 - ? ? - white - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Unknown - pathogenic g.64776242del g.64066349del p.(Ile2239fs) - EYS_000137 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG-S - - retinal disease - PubMed: Haer-Wigman 2017 - ? no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Unknown - pathogenic g.64776242del g.64066349del p.(Ile2239Serfs*17) - EYS_000137 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease TW+H.97 PubMed: Ge 2015 - ? - United States ? - - - - 1 Rob W.J. Collin
+/+ 33 c.6714del r.(?) p.(Ile2239Serfs*17) Unknown - pathogenic g.64776242del g.64066349del p.(Ile2239Serfs*17) - EYS_000137 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA PE - APEX retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ - c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic g.64776242del g.64066349del p.(Ile2239Serfs*17) - EYS_000137 - 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.6714del r.(?) p.(Ile2239SerfsTer17) Unknown - pathogenic g.64776242del g.64066349del EYS(NM_001292009.2):c.6714delT (p.I2239Sfs*17) - EYS_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6714del r.(?) p.(Ile2239SerfsTer17) Both (homozygous) - pathogenic (recessive) g.64776242del g.64066349del - - EYS_000137 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239SerfsTer17) Both (homozygous) - pathogenic g.64776242del g.64066349del 6714delT - EYS_000137 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Pat17 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
?/. 33 c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - VUS g.64776242del - c.6714del - EYS_000137 - PubMed: Collin-2011 - - Germline - - - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - M - Netherlands - - - - - 1 LOVD
+/. 33 c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del c.6714delT, p.Ile2239Serfs*17 - EYS_000137 Heterozygous PubMed: Birtel 2018 - rs752953889 Germline ? - - - - DNA SEQ blood - retinal disease 3 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.4829_4832del, p.(Ser1610Phefs*7) - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 107 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 110 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.9344T>A, p.(Val3115Asp) - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 111 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.1211dup, p.(Asn404Lysfs*3) - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 115 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.6714del, p.(Ile2239Serfs*17), ABCA4 c.5908C>T, p.(Leu1970Phe) - EYS_000137 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 124 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.8648_8655del, p.(Thr2883Lysfs*4), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 - 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.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.(2137+1_2138-1), _(2259+1_2260-1), dup - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 126 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.4350_4356del, p.(Ile1451Profs*3), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 - 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.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.(2641+1_2642-1), _(2846+1_2847-1), del - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 129 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.232del, p.(Cys78Alafs*7), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 130 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) ACMG pathogenic g.64776242del g.64066349del EYS c.6714del, p.(Ile2239Serfs*17), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 132 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.8648_8655del, p.(Thr2883Lysfs*4), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 - 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.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS c.232del, p.(Cys78Alafs*7), c.6714del, p.(Ile2239Serfs*17) - EYS_000137 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 134 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del c.6714del; p.(Ile2239Serfs*17) - EYS_000137 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-213 PubMed: Rodriguez-Munoz 2020 family fRPN-84, family member M - Spain - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown ACMG pathogenic g.64776242del g.64066349del EYS:NM_001142800 c.6714delT, p.I2239Sfs*16 - EYS_000137 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-214 PubMed: Rodriguez-Munoz 2020 family fRPN-84, proband M - Spain - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown - pathogenic g.64776242del g.64066349del EYS c.6714del, p.Ile2239SerfsTer17 - EYS_000137 both papers interpret c.6714del as p.Pro2238ProX16, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-059 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic g.64776242del g.64066349del c.6714del, p.Ile2239SerfsTer17 - EYS_000137 both papers interpret c.6714del as p.Pro2238ProX16, homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-059 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Unknown - pathogenic g.64776242del g.64066349del c.6714delT, p.Ile2239SerfsTer17 - EYS_000137 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease 099-016 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS c.6714del, p.I2239SfsX17 - EYS_000137 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 66 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS c.6714del, p.I2239SerfsX17 - EYS_000137 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 70 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS, variant 1: c.6714del/p.I2239Sfs*17, variant 2 :Deletion exon 26-28 - EYS_000137 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 blood Sanger sequencing retinal disease 118 PubMed: Weisschuh 2020 Filing key number: 53, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS, variant 1: c.6714del/p.I2239Sfs*17, variant 2 :Deletion exon 26-28 - EYS_000137 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 RET8 targeted sequencing panel - see paper retinal disease 119 PubMed: Weisschuh 2020 Filing key number: 53, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS, variant 1: c.6714del/p.I2239Sfs*17, variant 2: c.6714del/p.I2239Sfs*17 - EYS_000137 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 1074 PubMed: Weisschuh 2020 Filing key number: 699, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS, variant 1: c.2420del/p.S807Mfs*4, variant 2: c.6714del/p.I2239Sfs*17 - EYS_000137 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 1087 PubMed: Weisschuh 2020 Filing key number: 724, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - likely pathogenic g.64776242del g.64066349del EYS, variant 1: c.2055T>A/p.C685*, variant 2: c.6714del/p.I2239Sfs*17 - EYS_000137 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1261 PubMed: Weisschuh 2020 Filing key number: 1055, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 33 c.6714del r.(?) p.(Ile2239Serfs*17) Both (homozygous) - pathogenic (recessive) g.64776242del - c.6714del - EYS_000137 - PubMed: Colombo-2020 - rs752953889 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 33 c.6714del r.(?) p.(Ile2239Serfs*17) Unknown - likely pathogenic g.64776242del - c.6714delT - EYS_000137 - PubMed: Sengillio 2018 - rs752953889 Germline - 0.00003948 - - - DNA SEQ-NG, SEQ peripheral whole blood lymphocytes - retinal disease P9 PubMed: Sengillio 2018 - F - (United States) - - - - - 1 LOVD
+/. 33 c.6714del r.(?) p.(Ile2239Serfs*17) Parent #2 - pathogenic g.64776242del - c.6714del - EYS_000137 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 33 c.6714del r.(?) p.(Ile2239Serfs*17) Parent #1 - pathogenic g.64776242del - c.6714del - EYS_000137 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.6714del r.(?) p.(Ile2239Serfs*17) Paternal (confirmed) - pathogenic (recessive) g.64776242del g.64066349del 6714delT - EYS_000137 - PubMed: Dai 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease FamPatIII2 PubMed: Dai 2023 4-generation family, 7 affected (5F, 2M) F no China - - - - - 1 Johan den Dunnen
+/. - c.6714del r.(?) p.(Ile2239SerfsTer17) Unknown ACMG pathogenic (recessive) g.64776242del g.64066349del - - EYS_000137 ACMG PM2, PVS1, PP5_STRONG PubMed: Weisschuh 2024 357699 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-432 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.6714del r.(?) p.(Ile2239SerfsTer17) Unknown ACMG pathogenic (recessive) g.64776242del g.64066349del - - EYS_000137 ACMG PM2, PVS1, PP5_STRONG PubMed: Weisschuh 2024 357699 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1125 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.6714del r.(?) p.(Ile2239SerfsTer17) Unknown - pathogenic g.64776242del - EYS(NM_001292009.2):c.6714delT (p.I2239Sfs*17) - EYS_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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