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.

87 entries on 1 page. Showing entries 1 - 87.
Legend   How to query  

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     
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 5 families, 6 cases - - - Jewish-Ashkenazi - - - - 6 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Nakamura 2002 - - - Japan Japanese - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Khan 2007 - - - Saudi Arabia - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Bernal 2008 - - - Spain Spanish - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Iannaccone et al.2009 - - - Italy Italy;Jewish - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Chavala 2005 - - - - Arab Emirates - - - - 2 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Bernal 2008 - - - Spain Spanish - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Pachydaki 2009 2 families, 3 cases - - - - - - - - 3 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Sharon 2003 2 families, 2 cases - - - - - - - - 2 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Gerber 2000 - - - - Iberi;Jewish-Crypto - - - - 27 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Bandah 2009 - - - Morocco Jewish - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Bandah 2009 - - - Palestine Palestinian - - - - 5 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Europe, west - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Jewish-Ashkenazi - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Audo 2008 - - - - - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Sharon 2003 2 families, 2 cases - - - - - - - - 2 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Escher 2009 - - - United States Jewish-American - - - - 2 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Bandah 2009 - - - - Jewish-Ashkenazi - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Sharon 2003 - - - - - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Pachydaki 2009 - - - - - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Bandah 2009 - - - - Jewish-Ashkenazi - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - Italy Italian - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #1 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Pachydaki 2009 - - - - - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #1 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant, variant 2 unknown: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Jewish-Ashkenazi - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Parent #1 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Ripamonti 2014 - - - - - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Park 2013 - - - - - - - - - 1 Pascal Escher
+/+ 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 deleterious variant: im paired repression (Escher 2009), (Takezawa 2007) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Yzer 2013 - - - - - - - - - 1 Pascal Escher
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Unknown - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F yes Israel Morocco;Jewish - - - - 1 Dror Sharon
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Unknown - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Jewish-Ashkenazi - - - - 2 Dror Sharon
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Parent #2 - pathogenic (recessive) g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0506 PubMed: Sharon 2019 family F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Unknown - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ESCS MOL0528 PubMed: Sharon 2019 - M no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Unknown - pathogenic g.72105913G>A - - - NR2E3_000011 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - VUS g.72105913G>A g.71813573G>A NR2E3(NM_016346.3):c.932G>A (p.R311Q) - NR2E3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely pathogenic g.72105913G>A g.71813573G>A NR2E3(NM_016346.3):c.932G>A (p.R311Q) - NR2E3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.932G>A r.(?) p.(Arg311Gln) Unknown ACMG pathogenic g.72105913G>A - - - NR2E3_000011 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+/. - c.932G>A r.(?) p.(Arg311Gln) Unknown ACMG pathogenic g.72105913G>A - - - NR2E3_000011 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.932G>A r.(?) p.(Arg311Gln) Unknown ACMG pathogenic g.72105913G>A - - - NR2E3_000011 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) ACMG pathogenic (recessive) g.72105913G>A - - - NR2E3_000011 - PubMed: Sharon 2015, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 PubMed: Sharon 2015, PubMed: Sharon 2019 - - Israel Jewish-Ashkenazi - - - - 1 Global Variome, with Curator vacancy
+?/. - c.932G>A r.(?) p.(Arg311Gln) Parent #2 - likely pathogenic (recessive) g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Bryant 2018 - rs28937873 Germline - - - - - DNA SEQ-NG - WES retinal disease JB32 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Parent #1 - likely pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 484 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Habibi 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease F4 PubMed: Habibi 2016 family - - Tunisia - - - - - 1 LOVD
+/. 6 c.932G>A r.(?) p.(Arg311Gln) Parent #1 - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat109 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat93 PubMed: Neuhaus 2017 - - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1116 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Reseq retinal disease Pat12 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
?/. - c.932G>A r.(?) p.(Arg311Gln) Parent #1 - VUS g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 12 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) ACMG likely pathogenic g.72105913G>A g.71813573G>A NM_014249.3:c.932G>A;p.(Arg311Gln) - NR2E3_000011 - PubMed: Patel 2018 - rs28937 Germline yes - - - - DNA SEQ-NG - 322 eye disease gene panel retinal disease 10DG0901 PubMed: Patel 2018 - - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) ACMG likely pathogenic g.72105913G>A g.71813573G>A NM_014249.3:c.932G>A;p.(Arg311Gln) - NR2E3_000011 - PubMed: Patel 2018 - rs28937 Germline yes - - - - DNA SEQ-NG - 322 eye disease gene panel retinal disease 14DG0753 PubMed: Patel 2018 - - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A NM_014249, c.932G>A, p.Arg311Gln - NR2E3_000011 - PubMed: Ezquerra-Inchausti 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Ezquerra-Inchausti 2018 Family RP173 ? ? Spain - - - - - 1 LOVD
+/. - c.932G>A r.(?) p.(Arg311Gln) Unknown ACMG pathogenic g.72105913G>A g.71813573G>A NR2E3 c.119-2A>C, p.(?), c.932G>A, p.(Arg311Gln), RLBP1 c.(525+1_526-1), _(*1_?), del - NR2E3_000011 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 157 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A Allele 1 c.932G>A (p.Arg311Gln), Allele 2 c.932G>A (p.Arg311Gln) - NR2E3_000011 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. 6 c.932G>A r.(?) p.(Arg311Gln) Unknown - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 Ex.2 c.151G>A p.(Gly51Arg), Ex.6 c.932G>A p.(Arg311Gln) - NR2E3_000011 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-1658 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 Ex.6 c.932G>A p.(Arg311Gln), Ex.6 c.932G>A p.(Arg311Gln) - NR2E3_000011 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2221 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 Ex.6 c.932G>A p.(Arg311Gln), Ex.6 c.932G>A p.(Arg311Gln) - NR2E3_000011 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2245 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 Ex.6 c.932G>A p.(Arg311Gln), Ex.6 c.932G>A p.(Arg311Gln) - NR2E3_000011 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2404 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 c.932G>A, p.(Arg311Gln) - NR2E3_000011 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2881_004466 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely pathogenic g.72105913G>A g.71813573G>A c.932G>A, p.(Arg311Gln) - NR2E3_000011 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-328 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely pathogenic g.72105913G>A g.71813573G>A c.932G>A, p.(Arg311Gln) - NR2E3_000011 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2881_004466 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A g.71813573G>A - - NR2E3_000011 - PubMed: Lingao 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Pat4 PubMed: Lingao 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 n.309-2A>C, - NR2E3_000011 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005499 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 6 c.932G>A r.? p.? Unknown - likely pathogenic g.72105913G>A - c.932G>A - NR2E3_000011 - PubMed: Booij-2011 - rs28937873 Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. - c.932G>A r.(?) p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A g.71813573G>A NR2E3 c.932G>A p.(Arg311Gln) - NR2E3_000011 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 20 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - likely pathogenic g.72105913G>A - R311Q, CGG>CAG - NR2E3_000011 - PubMed: Khan 2007 - - Germline - - - - - DNA SEQ venous blood - retinal disease Case 3 PubMed: Khan 2007 - M - (Saudi Arabia) - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Unknown - pathogenic g.72105913G>A - Arg311Gln CGG>CAG - NR2E3_000011 - PubMed: Collision 2019 - - Germline - - - - - DNA ? - - retinal disease ESCS4 PubMed: Collision 2019 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #1 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P5/F4 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #1 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P8/F6 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #2 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P12/F9 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P14/F11 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P16/F13 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #1 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P18/F15 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P19/F13 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P20/F16 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #1 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P22/F18 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P24/F19 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #2 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P26/F21 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Parent #2 - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P27/F22 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P29/F24 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P30/F25 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P34/F28 PubMed: Garafalo 2018 - M - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P36/F30 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic (recessive) g.72105913G>A - c.932G>A,p.R311Q - NR2E3_000011 - PubMed: Garafalo 2018 - - Germline - - - - - DNA ? - - retinal disease P37/F30 PubMed: Garafalo 2018 - F - - - - - - - 1 LOVD
+?/. 6 c.932G>A r.? p.(Arg311Gln) Unknown - likely pathogenic (recessive) g.72105913G>A - c.932G>A - NR2E3_000011 - PubMed: Murro 2018 - - Germline - - - - - DNA ? - - retinal disease P5 PubMed: Murro 2018 - M - (Italy) - - - - - 1 LOVD
+?/. 6 c.932G>A r.? p.(Arg311Gln) Unknown - likely pathogenic (recessive) g.72105913G>A - c.932G>A - NR2E3_000011 - PubMed: Murro 2018 - - Germline - - - - - DNA ? - - retinal disease P9 PubMed: Murro 2018 - F - (Italy) - - - - - 1 LOVD
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A - c.932G>A - NR2E3_000011 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 6 c.932G>A r.? p.(Arg311Gln) Both (homozygous) - pathogenic g.72105913G>A - c.932G>A - NR2E3_000011 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.932G>A r.(?) p.(Arg311Gln) Unknown ACMG pathogenic g.72105913G>A g.71813573G>A - - NR2E3_000011 ACMG PP3, PM2, PM5, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-320 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.