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.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/. - c.5928‐2A>G r.spl p.? Both (homozygous) - pathogenic g.65098735T>C g.64388842T>C - - EYS_000158 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 32452 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/+ 28i c.5928-2A>G r.(?) p.? Unknown - pathogenic g.65098735T>C g.64388842T>C - - EYS_000158 unknown variant 2nd allele PubMed: Gonzalez-del Pozo 2011 - - Germline - - - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: Gonzalez-del Pozo 2011 - ? ? Spain Spanish - - - - 1 Rob W.J. Collin
+/? 28i c.5928-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.65098735T>C g.64388842T>C - - EYS_000158 - PubMed: Habibi 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease Fam9PatIV-II PubMed: Habibi 2016 5-generation family, affected brother/sister M yes Tunisia Tunisian - - - - 2 Rob W.J. Collin
+/? 28i c.5928-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.65098735T>C g.64388842T>C - - EYS_000158 - PubMed: Habibi 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease Fam9PatIV-III PubMed: Habibi 2016 sister F9IV-II F yes Tunisia Tunisian - - - - 1 Rob W.J. Collin
+/. - c.5928-2A>G r.spl? p.? Unknown - pathogenic g.65098735T>C g.64388842T>C EYS(NM_001142800.2):c.5928-2A>G, EYS(NM_001292009.1):c.5928-2A>G, EYS(NM_001292009.2):c.5928-2A>G - EYS_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5928-2A>G r.spl? p.? Unknown - pathogenic g.65098735T>C g.64388842T>C EYS(NM_001142800.2):c.5928-2A>G, EYS(NM_001292009.1):c.5928-2A>G, EYS(NM_001292009.2):c.5928-2A>G - EYS_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5928-2A>G r.spl? p.? Unknown - pathogenic (recessive) g.65098735T>C - 6:65098735T>C ENST00000503581.1:c.5928-2A>G - EYS_000158 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009847 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 28i c.5928-2A>G r.spl p.(?) Both (homozygous) - likely pathogenic g.65098735T>C g.64388842T>C - - EYS_000158 - PubMed: Martin-Merida 2018 - - Germline yes 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease RP-1217 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 28i c.5928-2A>G r.(?) p.(?) Both (homozygous) - likely pathogenic g.65098735T>C g.64388842T>C EYS IVS28 c.5928-2A>G p.(?), IVS28 c.5928-2A>G p.(?) - EYS_000158 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-3030 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 28i c.5928-2A>G r.spl? p.? Unknown - likely pathogenic g.65098735T>C - c.5928-2A.G - EYS_000158 - PubMed: González-del Pozo-2011 - - Germline - 0/200 controls - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - - - - 1 LOVD
+/. - c.5928-2A>G r.spl p.(?) Unknown ACMG pathogenic g.65098735T>C g.64388842T>C EYS:NM_001142800 c.5928-2A>G, p.? - EYS_000158 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-443 PubMed: Rodriguez-Munoz 2020 family fRPN-SRT, proband M - Spain - - - - - 1 LOVD
+/. - c.5928-2A>G r.spl p.(?) Both (homozygous) ACMG pathogenic g.65098735T>C g.64388842T>C EYS c.5928‐2A - EYS_000158 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.003 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.5928-2A>G r.spl p.(?) Unknown - likely pathogenic g.65098735T>C g.64388842T>C EYS c.5928-2A>G, - EYS_000158 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009847 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.5928-2A>G r.(?) p.(?) Both (homozygous) - likely pathogenic g.65098735T>C g.64388842T>C EYS c.[5928-2A > G];[5928-2A > G], - - EYS_000158 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F21_II.5 PubMed: Habibi 2020 Family F21, patient II.5 F - Tunisia - - - - - 1 LOVD
+/. 28i c.5928-2A>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.65098735T>C - c.5928-2A>G - EYS_000158 - PubMed: Colombo-2020 - rs181169439 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.5928-2A>G r.spl? p.? Unknown - pathogenic g.65098735T>C - EYS(NM_001142800.2):c.5928-2A>G, EYS(NM_001292009.1):c.5928-2A>G, EYS(NM_001292009.2):c.5928-2A>G - EYS_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28i c.5928-2A>G r.spl? p.? Parent #2 - likely pathogenic (recessive) g.65098735T>C - c.5928-2A>G - EYS_000158 - PubMed: McGuigan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease P4 PubMed: McGuigan 2017 - M - - Hispanic - - - - 1 LOVD
+/. 28i c.5928-2A>G r.spl? p.(?) Both (homozygous) - pathogenic g.65098735T>C - c.5928-2A>G - EYS_000158 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 28i c.5928-2A>G r.spl? p.(?) Both (homozygous) - pathogenic g.65098735T>C - c.5928-2A>G - EYS_000158 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 28i c.5928-2A>G r.spl? p.(?) Both (homozygous) - pathogenic g.65098735T>C - c.5928-2A>G - EYS_000158 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.5928-2A>G r.spl? p.? Unknown - pathogenic g.65098735T>C - EYS(NM_001142800.2):c.5928-2A>G, EYS(NM_001292009.1):c.5928-2A>G, EYS(NM_001292009.2):c.5928-2A>G - EYS_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5928-2A>G r.spl p.? Unknown ACMG pathogenic g.65098735T>C - - - EYS_000158 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-166891 rs181169439 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3846505 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.5928-2A>G r.spl p.? Unknown ACMG pathogenic (recessive) g.65098735T>C g.64388842T>C - - EYS_000158 ACMG PM2, PVS1, PP5, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-474 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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