Full data view for gene NR2E3

This database is one of the "Eye disease" gene variant databases. It was established to group all sequence variant information on NR2E3-linked retinal degenerations, including enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant retinitis pigmentosa (adRP).
Information The variants shown are described using the NM_014249.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

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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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DB-ID     

Variant remarks     

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ClinVar ID     

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Disease     

ID_report     

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+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Coppieters 2007 3 families, 45 cases - - - Belgian/French - - - - 45 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Parent #2 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Gire 2007 3 families, 22 cases - - - white - - - - 22 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Escher 2009 - - - Switzerland Swiss - - - - 11 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Parent #2 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Escher 2009 - - - United States Jewish-American - - - - 3 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Escher 2009 - - - United States Jewish-American - - - - 2 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Yang 2010 2 families, 2 cases - - - Chinese - - - - 2 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Audo 2012 - - - - - - - - - 6 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Sullivan 2013 - - - Canada;United States - - - - - 1 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Escher 2012 - - - Switzerland Swiss - - - - 9 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Escher 2012 - - - Switzerland Swiss - - - - 3 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Escher 2012 - - - Tunisia Tunisian - - - - 1 Pascal Escher
+/+ 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009) PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Kawasaki 2012 2 families, 9 cases - - France - - - - - 9 Pascal Escher
+/. - c.166G>A - p.? Unknown - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121912631 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 497 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3672 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic (dominant) g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Bryant 2018 - rs121912631 Germline - - - - - DNA SEQ-NG - WES retinal disease JB48 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat14 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
+/. 2 c.166G>A r.(?) p.(Gly56Arg) Parent #1 ACMG pathogenic (dominant) g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA SEQ - - retinal disease FAM_043 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 2 c.166G>A r.(?) p.(Gly56Arg) Parent #1 ACMG pathogenic (dominant) g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA SEQ - - retinal disease FAM_044 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic (dominant) g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease ADRP18 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Martin-Merida 2018 - - Germline ? 7/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+/. 2 c.166G>A r.? p.? Unknown - pathogenic g.72103870G>A - c.166G>A - NR2E3_000024 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 - - - - - - - - - 1 LOVD
+?/. 2 c.166G>A r.? p.? Unknown - likely pathogenic g.72103870G>A - c.166G>A - NR2E3_000024 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+/. 2 c.166G>A r.(?) p.(Gly56Arg) Unknown ACMG pathogenic g.72103870G>A g.71811530G>A c.166G>A, p.Gly56Arg - NR2E3_000024 Heterozygous PubMed: Birtel 2018 - rs121912631 Germline ? - - - - DNA SEQ-NG blood - retinal disease 64 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. - c.166G>A r.(?) p.(Gly56Arg) Unknown ACMG pathogenic g.72103870G>A g.71811530G>A NR2E3 c.166G>A, p.(Gly56Arg) - NR2E3_000024 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 160 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A NR2E3 c.166G>A, p.(Gly56Arg) - NR2E3_000024 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-055 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A NR2E3 c.166G>A, p.(Gly56Arg) - NR2E3_000024 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2920_004505 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A NR2E3 c.166G>A, p.(Gly56Arg) - NR2E3_000024 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2928_004513 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1 PubMed: Weisschuh 2020 Filing key number: 2, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 2 PubMed: Weisschuh 2020 Filing key number: 2, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 34 PubMed: Weisschuh 2020 Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 35 PubMed: Weisschuh 2020 Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 36 PubMed: Weisschuh 2020 Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 37 PubMed: Weisschuh 2020 Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 38 PubMed: Weisschuh 2020 Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 39 PubMed: Weisschuh 2020 Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 365 PubMed: Weisschuh 2020 Filing key number: 122, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - likely pathogenic g.72103870G>A g.71811530G>A NR2E3, variant 1: c.166G>A/p.G56R - NR2E3_000024 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 844 PubMed: Weisschuh 2020 Filing key number: 348, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 2 c.166G>A r.? p.? Unknown - pathogenic (dominant) g.72103870G>A - c.166G>A - NR2E3_000024 - PubMed: Colombo-2020 - rs121912631 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 2 c.166G>A r.? p.? Unknown - pathogenic (dominant) g.72103870G>A - c.166G>A - NR2E3_000024 - PubMed: Colombo-2020 - rs121912631 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely pathogenic g.72103870G>A g.71811530G>A NR2E3 c.166G>A, G56R - NR2E3_000024 dominant heterozygous PubMed: Chebil 2016 - - Unknown ? - - - - DNA arraySNP, SEQ - - retinal disease Family ? PubMed: Chebil 2016 1 patient, 1 family ? - France Tunisia - - - - 1 LOVD
+/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - pathogenic g.72103870G>A - - - NR2E3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.166G>A r.? p.(Gly56Arg) Unknown - pathogenic g.72103870G>A - c.166G>A - NR2E3_000024 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.166G>A r.(?) p.(Gly56Arg) Unknown ACMG pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 ACMG PS1, PM2, PM1_SUPPORTING, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-18 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+/. - c.166G>A r.(?) p.(Gly56Arg) Parent #1 - pathogenic g.72103870G>A g.71811530G>A - - NR2E3_000024 - PubMed: Midgley 2024 - rs121912631 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat23 PubMed: Midgley 2024 - F - South Africa white - - - - 1 Johan den Dunnen
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