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.

619 entries on 7 pages. Showing entries 1 - 100.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-4474001_*89057del r.0? p.0? Unknown - pathogenic g.67629083_72199082del - - - MAP2K5_000011 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.? r.? p.? Unknown - likely benign g.? - p.Arg155fs - IGF1R_000000 - PubMed: Bhatia 2019 - - Germline no - - - - DNA SEQ-NG, SEQ blood - retinal disease IV:1 PubMed: Bhatia 2019 - F yes - India - - - - 1 LOVD
-?/. - c.25A>G r.(?) p.(Met9Val) Unknown - likely benign g.72103108A>G g.71810768A>G NR2E3(NM_016346.3):c.25A>G (p.M9V) - NR2E3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.67G>C r.(?) p.(A23P) Unknown - VUS g.72103150G>C g.71810810G>C - - NR2E3_000050 unclassified variant PubMed: Schorderet and Escher 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Schorderet and Escher 2009 - - - Switzerland Swiss - - - - 1 Pascal Escher
-?/. - c.69C>T r.(?) p.(Ala23=) Unknown - likely benign g.72103152C>T g.71810812C>T NR2E3(NM_016346.3):c.69C>T (p.A23=) - NR2E3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94T>G r.(?) p.(Trp32Gly) Unknown - likely benign g.72103177T>G g.71810837T>G NR2E3(NM_016346.3):c.94T>G (p.W32G) - NR2E3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.95G>A r.(?) p.(W32X) Parent #1 - pathogenic g.72103178G>A g.71810838G>A - - NR2E3_000082 potentially de novo PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.95G>A r.(?) p.(Trp32Ter) Unknown - pathogenic g.72103178G>A g.71810838G>A NR2E3(NM_016346.4):c.95G>A (p.W32*) - NR2E3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.95G>A r.(?) p.(Trp32Ter) Unknown - likely pathogenic g.72103178G>A - NR2E3(NM_016346.4):c.95G>A (p.W32*) - NR2E3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.118-2A>C r.(?) p.? Both (homozygous) - pathogenic g.72103199A>C - c.IVS1-2A>C - NR2E3_000155 - PubMed: Beryozkin-2014 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Beryozkin-2014 - - yes - Arab-Muslim - - - - 1 LOVD
+/. 1 c.118-2A>C r.(?) p.? Both (homozygous) - pathogenic g.72103199A>C - c.IVS1-2A>C - NR2E3_000155 - PubMed: Beryozkin-2014 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Beryozkin-2014 - - yes Yemen Yemenite;Jewish - - - - 3 LOVD
-/. - c.118+226T>C r.(=) p.(=) Unknown - benign g.72103427T>C g.71811087T>C NR2E3(NM_016346.4):c.118+226T>C - NR2E3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119-57_166del r.spl? p.? Unknown - pathogenic g.72103766_72103870del g.71811426_71811530del - - NR2E3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119-57_166del r.spl p.? Parent #1 - pathogenic (recessive) g.72103766_72103870del g.71811426_71811530del - - NR2E3_000117 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
-/- 1i c.119-47C>T r.(=) p.(=) Unknown - benign g.72103776C>T g.71811436C>T - - NR2E3_000061 polymorphism - - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - Chinese - - - - 9 Pascal Escher
-/- 1i c.119-28T>C r.(=) p.(=) Unknown - benign g.72103795T>C g.71811455T>C - - NR2E3_000034 polymorphism PubMed: Haider 2000 - rs2742318 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Pascal Escher
-/- 1i c.119-28_119-13del r.(=) p.(=) Unknown - benign g.72103795_72103810del g.71811455_71811470del - - NR2E3_000062 polymorphism - - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - Chinese - - - - 1 Pascal Escher
-/- 1i c.119-27_119-12del r.(=) p.(=) Unknown - benign g.72103796_72103811del g.71811456_71811471del 119-27del16 - NR2E3_000035 polymorphism PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Pascal Escher
-/- 1i c.119-27_119-12dup r.(=) p.(=) Unknown - benign g.72103796_72103811dup g.71811456_71811471dup 119-27dup16 - NR2E3_000036 polymorphism PubMed: Coppieters 2007 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-3C>G r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103820C>G g.71811480C>G IVS1-3C>G - NR2E3_000002 deleterious variant: skipping of exon 2 PubMed: Audo 2008 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Audo 2008 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Haider 2000 - - - - Syrian/Lebanese - - - - 4 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Jewish-Ashkenazi - - - - 2 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 2 families, 2 cases - - Germany - - - - - 2 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - Cuba - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Khan 2007 - - - Saudi Arabia Saudi Arabian - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Audo 2008 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Bandah 2009 4 families, 8 cases - - Palestine Palestinian - - - - 8 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Bonilha 2009 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Sharon 2003 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Bernal 2008 - - - Spain Spanish - - - - 2 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Jewish-Ashkenazi - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Sharon 2003 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Audo 2008 - - - - - - - - - 2 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Sharon 2003 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - United Kingdom (Great Britain) British/American - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - Germany - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - United Kingdom (Great Britain) British/Amerindian - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Sharon 2003 2 families, 3 cases - - - - - - - - 3 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Lam 2007 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - British/Italian - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Sharon 2003 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Europe, west - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - - Jewish-Ashkenazi - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Audo 2008 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Sharon 2003 2 families, 2 cases - - - - - - - - 2 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - United Kingdom (Great Britain) British - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Wright 2004 - - - Germany - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - RPad - PubMed: Collin 2011 - - - Netherlands - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Udar 2011 - F - Brazil Brazilian - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Park 2013 - - - - - - - - - 1 Pascal Escher
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23) Parent #1 - pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 deleterious variant: skipping of exon 2 (Bernal 2008) PubMed: Haider 2000 - - Germline - - - - - DNA SEQ - - ESCS - PubMed: Park 2013 - - - - - - - - - 1 Pascal Escher
+/. - c.119-2A>C r.spl? p.? Unknown - pathogenic g.72103821A>C g.71811481A>C NR2E3(NM_016346.3):c.119-2A>C, NR2E3(NM_016346.4):c.119-2A>C - NR2E3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119-2A>C r.spl? p.? Unknown - pathogenic g.72103821A>C g.71811481A>C NR2E3(NM_016346.3):c.119-2A>C, NR2E3(NM_016346.4):c.119-2A>C - NR2E3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.119-2A>C r.spl p.? Both (homozygous) - pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - ESCS MOL0045 PubMed: Sharon 2019 family M yes Israel Arab-Muslim - - - - 2 Dror Sharon
+/. 1i c.119-2A>C r.spl p.? Unknown - pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Jewish-Ashkenazi - - - - 2 Dror Sharon
+/. - c.119-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat06 PubMed: Lionel 2018 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.119-2A>C r.spl? p.? Unknown - pathogenic g.72103821A>C g.71811481A>C NR2E3(NM_016346.3):c.119-2A>C, NR2E3(NM_016346.4):c.119-2A>C - NR2E3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease Fam32P37 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - 1 Sandro Banfi
+/. - c.119-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease Fam32P38 PubMed: Karali 2019, Journal: Karali 2019 - - - Italy - - - - - 1 Sandro Banfi
+/. - c.119-2A>C r.(?) p.(?) Unknown ACMG pathogenic g.72103821A>C - - - NR2E3_000001 ACMG grading: PVS1,PS3,PS4,PM2,PM3,PP1 - - rs2723341 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.119-2A>C r.spl p.? Unknown ACMG pathogenic g.72103821A>C - - - NR2E3_000001 - PubMed: Sharon 2019 - - Germline - 7/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 7 IRD families - - Israel - - - - - 7 Global Variome, with Curator vacancy
+/. - c.119-2A>C r.spl p.? Unknown ACMG pathogenic g.72103821A>C - - - NR2E3_000001 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.119-2A>C r.spl p.? Parent #2 - pathogenic (recessive) g.72103821A>C - - - NR2E3_000001 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ - - retinal disease TB134 PubMed: Kimchi 2018, PubMed: Sharon 2019 1 IRD family - - Israel Jewish-Ashkenazi - - - - 1 Global Variome, with Curator vacancy
+/. - c.119-2A>C r.spl? p.? Unknown - pathogenic (recessive) g.72103821A>C - 15:72103821A>C ENST00000617575.4:c.119-2A>C - NR2E3_000001 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008995 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Bryant 2018 - rs2723341 Germline - - - - - DNA SEQ-NG - WES retinal disease JB32 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Bryant 2018 - rs2723341 Germline - - - - - DNA SEQ-NG - WES retinal disease JB181 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 277 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 482 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Both (homozygous) - likely pathogenic g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 483 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.119-2A>C r.spl p.? Parent #2 - pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 9731 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Unknown - likely pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012950 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Unknown - likely pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG01042 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Unknown - likely pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG01072 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 1i c.119-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1266 PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 family M - Israel Arab-Muslim - - - - 1 Dror Sharon
+?/. - c.119-2A>C r.spl p.? Both (homozygous) - likely pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 44 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+/. 1i c.119-2A>C r.spl p.(?) Both (homozygous) ACMG pathogenic g.72103821A>C g.71811481A>C - - NR2E3_000001 - Tracewska 2021, MolVis in press - - Germline yes 0,00037 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel, WES retinal disease 301 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
?/. 1i c.119-2A>C r.spl? p.? Both (homozygous) - VUS g.72103821A>C - c.119–2A>C - NR2E3_000001 - PubMed: Collin-2011 - - Germline - - - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - M - Netherlands - - - - - 1 LOVD
+/. 1i c.119-2A>C r.spl? p.? Both (homozygous) - pathogenic g.72103821A>C - c.119-2A>C - NR2E3_000001 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 patient carry mutation known cause other retinal diseases. Enhanced S-cone syndrome - no - - - - - - 1 Julia Lopez
+/. 2 c.119-2A>C r.spl p.(?) Unknown ACMG pathogenic g.72103821A>C g.71811481A>C c.119-2A>C , Splice - NR2E3_000001 Heterozygous PubMed: Birtel 2018 - rs2723341 Germline yes - - - - DNA SEQ-NG blood - retinal disease 26 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. - c.119-2A>C r.spl p.(?) Unknown ACMG pathogenic g.72103821A>C g.71811481A>C NR2E3 c.119-2A>C, p.(?), c.932G>A, p.(Arg311Gln), RLBP1 c.(525+1_526-1), _(*1_?), del - NR2E3_000001 - 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.119-2A>C r.spl p.(?) Both (homozygous) ACMG pathogenic g.72103821A>C g.71811481A>C NR2E3 c.119-2A>C, p.(?), c.119-2 A>C, p.(?),, pDE6C c.1758C>A, p.(Tyr586*) - NR2E3_000001 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 161 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Both (homozygous) - likely pathogenic g.72103821A>C g.71811481A>C Allele 1 c.119-2A>C (p.?), Allele 2 c.119-2A>C (p.?) - NR2E3_000001 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. 1i c.119-2A>C r.(?) p.(?) Both (homozygous) - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 IVS1 c.119-2A>C p.(?), IVS1 c.119-2A>C p.(?) - NR2E3_000001 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-1912 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 1i c.119-2A>C r.(?) p.(?) Both (homozygous) - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 IVS1 c.119-2A>C p.(?), IVS1 c.119-2A>C p.(?) - NR2E3_000001 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2365 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 1i c.119-2A>C r.(?) p.(?) Unknown - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 IVS1 c.119-2A>C p.(?), Ex.3 c.309C>A p.(Cys103*) - NR2E3_000001 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2559 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 1i c.119-2A>C r.(?) p.(?) Both (homozygous) - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 IVS1 c.119-2A>C p.(?), IVS1 c.119-2A>C p.(?) - NR2E3_000001 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2702 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Unknown - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 c.119-2A>C - NR2E3_000001 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-328 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.119-2A>C r.spl p.? Parent #1 - pathogenic (recessive) g.72103821A>C g.71811481A>C IVS1-2A>C - NR2E3_000001 - PubMed: Lingao 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Pat2 PubMed: Lingao 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.119-2A>C r.spl p.? Parent #1 - pathogenic (recessive) g.72103821A>C g.71811481A>C - - NR2E3_000001 - PubMed: Lingao 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Pat3 PubMed: Lingao 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.? - NR2E3_000001 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 698 PubMed: Weisschuh 2020 Filing key number: 259, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.? - NR2E3_000001 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 699 PubMed: Weisschuh 2020 Filing key number: 259, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.? - NR2E3_000001 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 755 PubMed: Weisschuh 2020 Filing key number: 292, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.? - NR2E3_000001 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 756 PubMed: Weisschuh 2020 Filing key number: 292, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.328C>T/p.Q110* - NR2E3_000001 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 931 PubMed: Weisschuh 2020 Filing key number: 403, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.406G>T/p.E136* - NR2E3_000001 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 936 PubMed: Weisschuh 2020 Filing key number: 410, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.? - NR2E3_000001 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1177 PubMed: Weisschuh 2020 Filing key number: 860, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.72103821A>C g.71811481A>C NR2E3, variant 1: c.481del/p.T161Hfs*18, variant 2: c.119-2A>C/p.? - NR2E3_000001 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 892 PubMed: Weisschuh 2020 Filing key number: 374, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.(?) Unknown - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 c.119-2A>C, - NR2E3_000001 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008995 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. c.119-2A>C c.119-2A>C r.spl p.(?) Maternal (confirmed) ACMG pathogenic (recessive) g.87674402T>A g.86662174T>A NR2E3; NM_014249.3; c.119-2A>C - NR2E3_000001 heterozygous PubMed: DiScipio 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel-based testing retinal disease 1.II:1 PubMed: DiScipio 2020 - M - - - - - - - 1 LOVD
+?/. - c.119-2A>C r.spl p.? Unknown - likely pathogenic g.72103821A>C g.71811481A>C NR2E3 p.119-2A>C - NR2E3_000001 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, error in annotation, p.119-2A>C in paper, no c.DNA annotation in paper for this variant PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 13 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
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