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.

52 entries on 1 page. Showing entries 1 - 52.
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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     
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Maternal (confirmed) - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Abd El-Aziz 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 proband F no China Chinese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Maternal (confirmed) - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Abd El-Aziz 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 - M no China Chinese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Maternal (confirmed) - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Abd El-Aziz 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 - F no China Chinese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Abd El-Aziz 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abd El-Aziz 2010 - F ? China Chinese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Paternal (inferred) - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Hosono 2012 PubMed: Suto 2014 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Suto 2014 index patient, onset childhood F no Japan Higashi-Osaka, Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Hosono 2012 PubMed: Suto 2014 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Suto 2014 - F no Japan Tokyo, Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Arai 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Arai 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Arai 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Arai 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Arai 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Both (homozygous) - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Gu 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Gu 2016 proband F no China Chinese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Paternal (confirmed) - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Gu 2016 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Gu 2016 proband F no China Chinese - - - - 1 Rob W.J. Collin
+?/+? 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T p.G2186E - EYS_000144 - PubMed: Yoon 2015 - - Germline - - - - - DNA SEQ - - retinal disease 440 PubMed: Yoon 2015 sporadic case ? - Korea Korean - - - - 1 Rob W.J. Collin
+/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236068 Germline - 35/1198 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1198 retinitis pigmentosa cases - - Japan - - - - - 35 Yoshito Koyanagi
+/. - c.6557G>A r.(?) p.(Gly2186Glu) Both (homozygous) - pathogenic g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236068 Germline - 2/1198 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1198 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Parent #2 ACMG likely pathogenic (recessive) g.64791763C>T - - - EYS_000144 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. - c.6557G>A r.(?) p.(Gly2186Glu) Parent #1 - pathogenic g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Maeda 2018 - rs527236068 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat6 PubMed: Maeda 2018 family F - Japan - - - - - 1 LOVD
+/. - c.6557G>A r.(?) p.(Gly2186Glu) Parent #1 - pathogenic g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Maeda 2018 - rs527236068 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat20 PubMed: Maeda 2018 patient, no family history F - Japan - - - - - 1 LOVD
+/. - c.6557G>A r.(?) p.(Gly2186Glu) Parent #2 - pathogenic g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Maeda 2018 - rs527236068 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat15 PubMed: Maeda 2018 patient, no family history F - Japan - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Parent #2 ACMG likely pathogenic g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19415 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic (recessive) g.64791763C>T g.64081870C>T - - EYS_000144 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP289 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG VUS g.64791763C>T - - - EYS_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0029 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG VUS g.64791763C>T - - - EYS_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0055 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG VUS g.64791763C>T - - - EYS_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0090 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG VUS g.64791763C>T - - - EYS_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0097 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG VUS g.64791763C>T - - - EYS_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0111 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG VUS g.64791763C>T - - - EYS_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_BDC_0005 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG likely pathogenic g.64791763C>T g.64081870C>T EYS c.6557G>A, p.G2186E - EYS_000144 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T c.6557G>A, p.Gly2186Glu - EYS_000144 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070029_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown ACMG likely pathogenic g.64791763C>T g.64081870C>T EYS c.6557G>A, p.(Gly2186Glu) - EYS_000144 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Panel 6 containing 386 genes retinal disease 112 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T EYS c.6557G>A, p.Gly2186Glu - EYS_000144 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2883_004468 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T EYS p.(Gly2186Glu) - EYS_000144 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-228 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Both (homozygous) - likely pathogenic g.64791763C>T g.64081870C>T EYS p.(Gly2186Glu) - EYS_000144 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-259 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T EYS p.(Gly2186Glu) - EYS_000144 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-180 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic g.64791763C>T g.64081870C>T EYS p.(Gly2186Glu) - EYS_000144 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-34 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic (recessive) g.64791763C>T - c.6557G>A - EYS_000144 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic (recessive) g.64791763C>T - c.6557G>A - EYS_000144 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - likely pathogenic (recessive) g.64791763C>T - c.6557G>A - EYS_000144 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Both (homozygous) - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Both (homozygous) - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Unknown - pathogenic (recessive) g.64791763C>T - c.6557G>A:p.G2186E - EYS_000144 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. - c.6557G>A r.(?) p.(Gly2186Glu) Parent #1 - pathogenic (recessive) g.64791763C>T - - - EYS_000144 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - - - - - DNA SEQ, SEQ-ON, SEQ-NG - gene panel RP OPH641 PubMed: Sano 2022, PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - M - Japan - - - - - 1 Johan den Dunnen
+?/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Parent #2 - likely pathogenic g.64791763C>T - c.6557G>A - EYS_000144 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 32 c.6557G>A r.(?) p.(Gly2186Glu) Parent #1 - likely pathogenic g.64791763C>T - c.6557G>A - EYS_000144 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.7492G>C r.(?) p.(Ala2498Pro) Unknown - likely pathogenic g.64791763C>T g.64081870C>T EYS p.(Ala2498Pro) - EYS_000144 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-257 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
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