Unique variants in the NR2E3 gene

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.

158 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 8 c.*360_*364del r.(=) p.(=) - VUS g.72110385_72110389del g.71818044_71818048del c.1230+364_368del5 - NR2E3_000060 unclassified variant PubMed: Bernal 2008 - - Germline - - - - - Pascal Escher
?/. 1 8 c.*53C>T r.(=) p.(=) - VUS g.72110078C>T - 1230+53C>T - NR2E3_000077 unclassified variant; variant description uncertain, estimated from paper PubMed: Yang 2010 - - Germline - - - - - Pascal Escher
+/. 1 - c.166G>M r.(?) p.(Gly56Arg) - pathogenic g.? - p.Gly56Arg - IGF1R_000000 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - LOVD
+/. 1 - c.-4474001_*89057del r.0? p.0? - pathogenic g.67629083_72199082del - - - MAP2K5_000011 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.25A>G r.(?) p.(Met9Val) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.67G>C r.(?) p.(A23P) - VUS g.72103150G>C g.71810810G>C - - NR2E3_000050 unclassified variant PubMed: Schorderet and Escher 2009 - - Germline - - - - - Pascal Escher
-?/. 1 - c.69C>T r.(?) p.(Ala23=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.94T>G r.(?) p.(Trp32Gly) - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 1 c.95G>A r.(?) p.(Trp32Ter), p.(W32X) - pathogenic g.72103178G>A g.71810838G>A - - NR2E3_000082 potentially de novo, VKGL data sharing initiative Nederland PubMed: Neveling 2012 - - CLASSIFICATION record, Germline yes - - - - Kornelia Neveling, VKGL-NL_Nijmegen
+/. 2 1 c.118-2A>C r.(?) p.? - pathogenic g.72103199A>C - c.IVS1-2A>C - NR2E3_000155 - PubMed: Beryozkin-2014 - - Germline - - - - - LOVD
-/. 1 - c.118+226T>C r.(=) p.(=) - benign g.72103427T>C g.71811087T>C NR2E3(NM_016346.3):c.118+226T>C - NR2E3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.119-57_166del r.spl, r.spl? p.? - pathogenic, pathogenic (recessive) g.72103766_72103870del g.71811426_71811530del - - NR2E3_000117 VKGL data sharing initiative Nederland PubMed: Van Huet 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
-/- 1 1i c.119-47C>T r.(=) p.(=) - benign g.72103776C>T g.71811436C>T - - NR2E3_000061 polymorphism - - - Germline - - - - - Pascal Escher
-/- 1 1i c.119-28T>C r.(=) p.(=) - benign g.72103795T>C g.71811455T>C - - NR2E3_000034 polymorphism PubMed: Haider 2000 - rs2742318 Germline - - - - - Pascal Escher
-/- 1 1i c.119-28_119-13del r.(=) p.(=) - benign g.72103795_72103810del g.71811455_71811470del - - NR2E3_000062 polymorphism - - - Germline - - - - - Pascal Escher
-/- 1 1i c.119-27_119-12del r.(=) p.(=) - benign g.72103796_72103811del g.71811456_71811471del 119-27del16 - NR2E3_000035 polymorphism PubMed: Haider 2000 - - Germline - - - - - Pascal Escher
-/- 1 1i c.119-27_119-12dup r.(=) p.(=) - benign g.72103796_72103811dup g.71811456_71811471dup 119-27dup16 - NR2E3_000036 polymorphism PubMed: Coppieters 2007 - - Germline - - - - - Pascal Escher
+/+ 1 1i c.119-3C>G r.(119_245del) p.(Val41Aalfs*23) - pathogenic g.72103820C>G g.71811480C>G IVS1-3C>G - NR2E3_000002 deleterious variant: skipping of exon 2 PubMed: Audo 2008 - - Germline - - - - - Pascal Escher
+/+, +/., +?/., ?/. 66 1i, 2 c.119-2A>C r.(119_245del), r.(?), r.spl, r.spl? p.(?), p.(Val41Aalfs*23), p.? ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.72103821A>C g.71811481A>C 15:72103821A>C ENST00000617575.4:c.119-2A>C, c.119-2A>C, c.119-2A>C , Splice, IVS1-2A>C, 7 more items - NR2E3_000001 ACMG grading: PVS1,PS3,PS4,PM2,PM3,PP1, compound heterozygous, Heterozygous, homozygous, 2 more items Sharon, submitted, Tracewska 2021, MolVis in press, PubMed: Birtel 2018, PubMed: Bryant 2018, 17 more items - rs2723341 CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown ?, yes 0,00037 (in-house database, ~5000 samples), 2/2420 IRD families, 7/2420 IRD families - - - Global Variome, with Curator vacancy, Johan den Dunnen, Pascal Escher, Andreas Laner, Dror Sharon, Sandro Banfi, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.121G>A r.(?) p.(Val41Met) - VUS g.72103825G>A g.71811485G>A NR2E3(NM_016346.3):c.121G>A (p.V41M) - NR2E3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 2 c.131C>A r.(?) p.(S44*) - pathogenic g.72103835C>A g.71811495C>A - - NR2E3_000063 deleterious variant: no DBD and LBD PubMed: Khan 2010 - - Germline - - - - - Pascal Escher
?/. 3 2 c.131C>T r.(?) p.(S44L), p.(Ser44Leu), p.? - VUS g.72103835C>T g.71811495C>T - - NR2E3_000051 unclassified variant PubMed: Bernal 2008, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Wang 2014 - rs202098481 Germline - 1/1204 cases with retinitis pigmentosa - - - Pascal Escher, Yoshito Koyanagi
-?/. 1 - c.135C>A r.(?) p.(Leu45=) - likely benign g.72103839C>A - NR2E3(NM_016346.3):c.135C>A (p.L45=) - NR2E3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.142C>T r.(?) p.(R48C) - pathogenic g.72103846C>T g.71811506C>T - - NR2E3_000084 deleterious variant: no DNA binding PubMed: Kuniyoshi 2013 - - Germline - - - - - Pascal Escher
?/. 1 - c.143G>A - p.? - VUS g.72103847G>A g.71811507G>A - - NR2E3_000110 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs372156526 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 2 2 c.143_144delGCins25 r.(?) p.? - pathogenic g.72103847_72103848delins(25) - c.143_144delGCins25 - NR2E3_000151 - PubMed: kannabiran-2012 - - Germline yes 0/100 unrelated normal controls - - - LOVD
+/+ 1 2 c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA r.(?) p.(Arg48Glnfs66*) - pathogenic g.72103847_72103848delinsAGTGTGCCTCCAGTGCCTCGCTCCA g.71811507_71811508delinsAGTGTGCCTCCAGTGCCTCGCTCCA - - NR2E3_000093 deleterious variant PubMed: Kannabiran 2012 - - Germline - - - - - Pascal Escher
+/+, ?/. 2 2 c.145G>A r.(?) p.(Val49Met), p.V49M - pathogenic, VUS g.72103849G>A g.71811509G>A - - NR2E3_000003 deleterious variant, VKGL data sharing initiative Nederland PubMed: Audo 2008 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Nijmegen
+/+, +/., +?/. 6 2 c.151G>A r.(?) p.(G51R), p.(Gly51Arg), p.? ACMG likely pathogenic, pathogenic g.72103855G>A g.71811515G>A NR2E3 Ex.2 c.151G>A p.(Gly51Arg), Ex.6 c.932G>A p.(Arg311Gln), 1 more item - NR2E3_000083 ACMG grading: PM2,PM3,PP1,PP3, compound heterozygous, deleterious variant: no DNA binding, homozygous, 1 more item Kuniyoshi et al. 2013. Ophthalmology 2: 431; Kuniyoshi et al. 2016. Jpn. J. Ophthalmol 6: 467, 3 more items - rs544807110 CLASSIFICATION record, Germline, Germline/De novo (untested) ?, yes 1/1204 cases with retinitis pigmentosa - - - Pascal Escher, Andreas Laner, VKGL-NL_Nijmegen, Yoshito Koyanagi
?/. 2 - c.155A>G r.(?) p.(Asp52Gly) - VUS g.72103859A>G g.71811519A>G NR2E3(NM_016346.3):c.155A>G (p.D52G) - NR2E3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+, +/., +?/. 31 2 c.166G>A r.(?), r.? p.(Gly56Arg), p.? ACMG likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.72103870G>A g.71811530G>A c.166G>A, c.166G>A, p.Gly56Arg, NR2E3 c.166G>A, p.(Gly56Arg) - NR2E3_000024 deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009), Heterozygous PubMed: Birtel 2018, PubMed: Bryant 2018, PubMed: Coppieters 2007, PubMed: Costa 2017, 8 more items - rs121912631 Germline, Unknown ?, yes 1/1204 cases with retinitis pigmentosa, 1/143 cases, 7/258 - - - Johan den Dunnen, Pascal Escher, Yoshito Koyanagi
+/. 2 - c.166G>C r.(?) p.(Gly56Arg) - pathogenic (dominant) g.72103870G>C g.71811530G>C - - NR2E3_000150 - PubMed: Xu 2014 - - Germline - - - - - LOVD
+/. 1 2 c.166G>M r.(?) p.(Gly56Arg) - pathogenic g.72103870G>M - p.Gly56Arg - IGF1R_000000 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - LOVD
?/. 2 - c.170A>G r.(?) p.(Lys57Arg) - VUS g.72103874A>G g.71811534A>G NR2E3(NM_016346.3):c.170A>G (p.K57R) - NR2E3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/- 1 2 c.183C>T r.(?) p.(=) - benign g.72103887C>T g.71811547C>T - - NR2E3_000064 polymorphism PubMed: Yang 2010 - - Germline - - - - - Pascal Escher
?/. 1 2 c.188C>A r.(?) p.(A63D) - VUS g.72103892C>A g.71811552C>A - - NR2E3_000053 unclassified variant Coppieters 2009 - - Germline - - - - - Pascal Escher
?/. 1 - c.191G>T r.(?) p.(Cys64Phe) - VUS g.72103895G>T g.71811555G>T - - NR2E3_000146 - PubMed: Ellingford 2016 - - Germline - - - - - LOVD
+/+, +/. 10 2 c.194_202del r.(?) p.(Asn65_Cys67del) ACMG pathogenic, pathogenic (recessive) g.72103898_72103906del g.71811558_71811566del 194–202del9bp, p.C67_G69del - NR2E3_000016 deleterious variant PubMed: Bravo-Gil 2016, PubMed: Haider 2000, PubMed: Sharon 2015, PubMed: Sharon 2019, 1 more item - - Germline - 4/2420 IRD families - - - Global Variome, with Curator vacancy, Pascal Escher, Dror Sharon
?/. 1 2 c.195C>T r.(?) p.(=) - VUS g.72103899C>T g.71811559C>T - - NR2E3_000054 unclassified variant PubMed: Bernal 2008 - - Germline - - - - - Pascal Escher
+/+ 1 2 c.196_201del r.(?) p.(Gly66_Cys67del) - pathogenic g.72103900_72103905del g.71811560_71811565del - - NR2E3_000085 deleterious variant PubMed: Udar 2011 - - Germline - - - - - Pascal Escher
-?/. 1 2 c.197G>C r.? p.? - likely benign g.72103901G>C - c.197G>C - NR2E3_000160 - PubMed: González-del Pozo-2011 - - Germline no - - - - LOVD
+/+, ?/. 2 2 c.202A>G r.(?) p.(S68G), p.(Ser68Gly) - pathogenic, VUS g.72103906A>G g.71811566A>G - - NR2E3_000092 deleterious variant, VKGL data sharing initiative Nederland PubMed: Park 2013 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Nijmegen
?/. 2 2 c.205G>A r.(?) p.(G69S), p.(Gly69Ser) - VUS g.72103909G>A g.71811569G>A NR2E3(NM_016346.3):c.205G>A (p.G69S) - NR2E3_000055 unclassified variant, VKGL data sharing initiative Nederland PubMed: Schorderet and Escher 2009 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Rotterdam
-/- 1 2 c.210C>T r.(?) p.(=) - benign g.72103914C>T g.71811574C>T - - NR2E3_000037 polymorphism PubMed: Schorderet and Escher 2009 - - Germline - - - - - Pascal Escher
+/+ 1 2 c.211_213del r.(?) p.(Phe71del) - pathogenic g.72103915_72103917del g.71811575_71811577del - - NR2E3_000025 deleterious variant PubMed: Pachydaki 2009 - - Germline - - - - - Pascal Escher
+?/. 1 - c.219G>C r.(?) p.(Arg73Ser) - likely pathogenic g.72103923G>C g.71811583G>C - - NR2E3_000144 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+?/. 1 - c.223G>A r.(?) p.(Val75Ile) - likely pathogenic g.72103927G>A g.71811587G>A - - NR2E3_000143 - PubMed: Maeda 2018 - rs750284532 Germline - - - - - LOVD
+/+, +/., +?/. 4 2 c.226C>T r.(?) p.(Arg76Trp), p.?, p.R76W - likely pathogenic, pathogenic g.72103930C>T g.71811590C>T - - NR2E3_000004 deleterious variant: no DNA binding (Roduit 2009) PubMed: Ge 2015, PubMed: Haider 2000, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, 1 more item - rs104894492 Germline - 1/1204 cases with retinitis pigmentosa - - - Pascal Escher, Yoshito Koyanagi
+/+, +/., +?/., ?/. 10 2 c.227G>A r.(?) p.(Arg76Gln), p.R76Q ACMG likely pathogenic, pathogenic, VUS g.72103931G>A g.71811591G>A c.227G>A, p.Arg76Gln, NR2E3 Ex.2 c.227G>A p.(Arg76Gln), Ex.2 c.227G>A p.(Arg76Gln), 2 more items - NR2E3_000005 compound heterozygous, deleterious variant: no DNA binding (Roduit 2009), Heterozygous, homozygous, 1 more item Tracewska 2021, MolVis in press, PubMed: Birtel 2018, PubMed: Haider 2000, PubMed: Li 2017, 2 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested) ?, yes 0,0016 (in-house database, ~5000 samples) - - - Pascal Escher, James Hejtmancik, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., ?/. 3 2 c.230G>A r.(?) p.(Arg77Gln), p.(R77Q) - likely benign, VUS g.72103934G>A g.71811594G>A NR2E3(NM_016346.3):c.230G>A (p.R77Q) - NR2E3_000056 unclassified variant, VKGL data sharing initiative Nederland PubMed: Coppieters 2007 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 2 c.242A>G r.(?) p.(Y81C) - pathogenic g.72103946A>G g.71811606A>G - - NR2E3_000017 deleterious variant PubMed: Audo 2008 - - Germline - - - - - Pascal Escher
-/-, -/. 2 2i c.245+8C>T r.(=) p.(=) - benign g.72103957C>T g.71811617C>T NR2E3(NM_016346.3):c.245+8C>T - NR2E3_000038 polymorphism, VKGL data sharing initiative Nederland PubMed: Sharon 2003 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Rotterdam
-?/. 1 - c.245+9G>A r.(=) p.(=) - likely benign g.72103958G>A g.71811618G>A NR2E3(NM_016346.3):c.245+9G>A - NR2E3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 2i c.245+75G>A r.(=) p.(=) - benign g.72104024G>A g.71811684G>A - - NR2E3_000065 polymorphism PubMed: Yang 2010 - - Germline - - - - - Pascal Escher
+/+ 1 3 c.248G>A r.(?) p.(Cys83Tyr) - pathogenic g.72104108G>A - - - NR2E3_000066 deleterious variant: no DNA binding PubMed: Rocha-Sousa 2010 - - Germline - - - - - Pascal Escher
+/+ 1 3 c.263G>T r.(?) p.G88V - pathogenic g.72104123G>T g.71811783G>T - - NR2E3_000006 deleterious variant: no DNA binding (Roduit 2009) PubMed: Wright 2004 - - Germline - - - - - Pascal Escher
-/- 1 3 c.285C>T r.(?) p.(=) - benign g.72104145C>T g.71811805C>T - - NR2E3_000039 polymorphism PubMed: Audo 2008 - - Germline - - - - - Pascal Escher
?/. 2 - c.289C>T r.(?) p.(Arg97Cys), p.? - VUS g.72104149C>T g.71811809C>T - - NR2E3_000111 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs775720634 CLASSIFICATION record, Germline - 1/1204 cases with retinitis pigmentosa - - - VKGL-NL_Nijmegen, Yoshito Koyanagi
+/+, +?/. 3 3 c.290G>A r.(?) p.(Arg97His), p.R97H - likely pathogenic, pathogenic g.72104150G>A g.71811810G>A - - NR2E3_000007 deleterious variant: no DNA binding (Roduit 2009) PubMed: Haider 2000, PubMed: Huang 2015 - - Germline yes - - - - Pascal Escher
+/., +?/. 2 - c.305C>A r.(?) p.(Ala102Asp), p.? - likely pathogenic, pathogenic (recessive) g.72104165C>A g.71811825C>A 15:72104165C>A ENST00000617575.4:c.305C>A (Ala102Asp) - NR2E3_000141 - PubMed: Carss 2017, PubMed: Stone 2017 - - Germline - - - - - LOVD
+/., +?/. 3 3 c.309C>A r.(?) p.(Cys103*), p.(Cys103Ter) ACMG likely pathogenic, pathogenic g.72104169C>A g.71811829C>A c.309C>A, p.Cys103*, NR2E3 IVS1 c.119-2A>C p.(?), Ex.3 c.309C>A p.(Cys103*) - NR2E3_000120 compound heterozygous, Homozygous, VKGL data sharing initiative Nederland PubMed: Birtel 2018, PubMed: Martin Merida 2019 - - CLASSIFICATION record, Germline, Germline/De novo (untested) ? - - - - VKGL-NL_Nijmegen
+/+, +/. 4 3 c.310C>T r.(?), r.? p.(Arg104Trp), p.? - pathogenic g.72104170C>T g.71811830C>T c.310C>T - NR2E3_000008 deleterious variant: no DNA binding (Roduit 2009) PubMed: Collin-2011, PubMed: Haider 2000 - - Germline - - - - - Pascal Escher
+/+, +/., +?/. 5 3 c.311G>A r.(?) p.(Arg104Gln), p.(R104Q), p.? ACMG likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.72104171G>A g.71811831G>A 15:72104171G>A ENST00000617575.4:c.311G>A (Arg104Gln) - NR2E3_000026 deleterious variant: no DNA binding (Roduit 2009) PubMed: Carss 2017, PubMed: Hayashi 2005, PubMed: Kimchi 2018, PubMed: Sharon 2019, 1 more item - rs766096417 Germline - 1/1204 cases with retinitis pigmentosa, 1/2420 IRD families - - - Global Variome, with Curator vacancy, Pascal Escher, Yoshito Koyanagi
+/. 1 - c.328dup - p.? - pathogenic g.72104188dup g.71811848dup NM_016346.3:c.328dupC - NR2E3_000145 - PubMed: Carrigan 2016 - - Germline - - - - - LOVD
-/. 1 - c.333G>A r.(?) p.(Ala111=) - benign g.72104193G>A g.71811853G>A NR2E3(NM_016346.3):c.333G>A (p.A111=) - NR2E3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 3 c.333G>T r.(?) p.(=) - benign g.72104193G>T g.71811853G>T - - NR2E3_000040 polymorphism PubMed: Haider 2000 - - Germline - - - - - Pascal Escher
?/. 1 - c.334G>A r.(?) p.(Gly112Arg) - VUS g.72104194G>A g.71811854G>A NR2E3(NM_016346.3):c.334G>A (p.G112R) - NR2E3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.349G>A r.(?) p.(Ala117Thr) - VUS g.72104209G>A - - - NR2E3_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.349+7C>T r.(=) p.(=) - benign g.72104216C>T g.71811876C>T NR2E3(NM_016346.3):c.349+7C>T - NR2E3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 3i c.349+8G>A r.(=) p.(=) - benign g.72104217G>A g.71811877G>A - - NR2E3_000067 polymorphism PubMed: Yang 2010 - - Germline - - - - - Pascal Escher
+/., +?/., ?/. 5 4 c.352G>A r.(?) p.(V118M), p.(Val118Met) ACMG likely pathogenic, pathogenic, VUS g.72104297G>A g.71811957G>A 1 more item - NR2E3_000068 compound heterozygous, unclassified variant, VKGL data sharing initiative Nederland PubMed: Comander 2017, PubMed: Martin Merida 2019, PubMed: Sharon 2019, PubMed: Yang 2010 - - CLASSIFICATION record, Germline, Germline/De novo (untested) ? 1/2420 IRD families - - - Global Variome, with Curator vacancy, Pascal Escher, VKGL-NL_Nijmegen
?/. 1 4 c.352G>C r.(?) p.(Val118Leu) - VUS g.72104297G>C - c.352G>C - NR2E3_000154 - PubMed: Chen-2013 - - Unknown - - - - - LOVD
-?/., ?/. 5 4 c.361G>A r.(?) p.(E121K), p.? - likely benign, VUS g.72104306G>A g.71811966G>A - - NR2E3_000032 classification based on frequency in 305 unrelated individuals, unclassified variant PubMed: Haider 2000, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Le 2019 - rs146403122 Germline - 4/1203 cases with retinitis pigmentosa, 78/1203 cases with retinitis pigmentosa, frequency 0.041 - - - Global Variome, with Curator vacancy, Pascal Escher, Yoshito Koyanagi
+/., +?/+?, +?/. 4 4 c.364C>T r.(?) p.(Arg122Cys) - likely pathogenic, likely pathogenic (recessive), pathogenic g.72104309C>T g.71811969C>T c.364C>T - NR2E3_000088 - PubMed: Bocquet 2013, PubMed: Bocquet-2013, PubMed: Oishi 2014 - - Germline yes - - - - Pascal Escher
-/., -?/. 2 - c.372G>A r.(?) p.(Pro124=) - benign, likely benign g.72104317G>A g.71811977G>A NR2E3(NM_016346.3):c.372G>A (p.P124=) - NR2E3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+, +/., +?/. 5 4 c.373C>T r.(?) p.(Arg125*), p.(Arg125Ter), p.? - likely pathogenic, pathogenic g.72104318C>T g.71811978C>T - - NR2E3_000122 1 heterozygous, no homozygous; Clinindb (India), deleterious variant: no LBD, 1 more item PubMed: Cassiman 2012, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Patel 2016 - rs786205493 CLASSIFICATION record, Germline - 1/2795 individuals - - - Pascal Escher, VKGL-NL_Nijmegen, Mohammed Faruq
+/. 1 - c.406G>T r.(?) p.(Glu136Ter) - pathogenic g.72104351G>T g.71812011G>T - - NR2E3_000137 - - - - Unknown - - - - - IMGAG
?/. 2 4 c.410C>T r.(?) p.(Ser137Phe), p.? - VUS g.72104355C>T g.71812015C>T C410T - NR2E3_000112 - PubMed: Katagiri 2014, PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs767828150 Germline - 9/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/-, -/. 3 4 c.419A>G r.(?) p.(E140G), p.? - benign g.72104364A>G g.71812024A>G - - NR2E3_000041 polymorphism PubMed: Haider 2000, PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs1805020 Germline - 465/1204 cases with retinitis pigmentosa, 89/1204 cases with retinitis pigmentosa - - - Pascal Escher, Yoshito Koyanagi
?/. 2 - c.424C>T r.(?) p.(Arg142Trp) - VUS g.72104369C>T g.71812029C>T - - NR2E3_000139 - PubMed: Jinda 2014, PubMed: Jinda 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.440_474del r.(?) p.(Val147GlyfsTer23) - pathogenic g.72104385_72104419del g.71812045_71812079del - - NR2E3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.443C>T - p.? - VUS g.72104388C>T g.71812048C>T - - NR2E3_000113 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.455C>T r.(?) p.(Pro152Leu) - likely benign g.72104400C>T g.71812060C>T NR2E3(NM_016346.3):c.455C>T (p.P152L) - NR2E3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +?/. 6 4 c.481del r.(?) p.(Thr161Hisfs*18), p.(Thr161HisfsTer18) ACMG likely pathogenic, pathogenic g.72104426del g.71812086del 481delA, NR2E3 c.481del, p.(Thr161Hisfs*18), c.554del, p.(Lys185Serfs*66) - NR2E3_000009 deleterious variant: no LBD PubMed: Jespersgaar 2019, PubMed: Stone 2017, PubMed: Wright 2004 - - Germline ? - - - - Pascal Escher
-/-, -/. 3 4 c.488T>C r.(?) p.(M163T), p.? - benign g.72104433T>C g.71812093T>C - - NR2E3_000042 polymorphism PubMed: Haider 2000, PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs1805021 Germline - 467/1203 cases with retinitis pigmentosa, 88/1203 cases with retinitis pigmentosa - - - Pascal Escher, Yoshito Koyanagi
?/. 1 - c.489G>A - p.? - VUS g.72104434G>A g.71812094G>A - - NR2E3_000114 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs534156309 Germline - 4/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/- 1 4 c.505C>T r.(?) p.(=) - benign g.72104450C>T g.71812110C>T - - NR2E3_000043 polymorphism PubMed: Haider 2000 - - Germline - - - - - Pascal Escher
?/. 1 - c.529C>A r.(?) p.(Leu177Ile) - VUS g.72104474C>A g.71812134C>A NR2E3(NM_016346.3):c.529C>A (p.L177I) - NR2E3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.554del r.(?) p.(Lys185Serfs*66) ACMG likely pathogenic g.72104499del g.71812159del NR2E3 c.481del, p.(Thr161Hisfs*18), c.554del, p.(Lys185Serfs*66) - NR2E3_000156 - PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+?/. 1 - c.571+2T>A r.spl? p.? - likely pathogenic g.72104518T>A g.71812178T>A - - NR2E3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.626dup r.(?) p.(Tyr209*)$ ACMG likely pathogenic g.72104730dup g.71812390dup NR2E3 c.646G>A, p.(Gly216Ser), c.626dup, p.(Tyr209*), $ - NR2E3_000157 - PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+?/. 2 - c.646G>A r.(?) p.(Gly216Ser) ACMG likely pathogenic g.72104750G>A g.71812410G>A NR2E3 c.646G>A, p.(Gly216Ser), c.626dup, p.(Tyr209*), $ - NR2E3_000148 - PubMed: Jespersgaar 2019, PubMed: Patel 2016 - - Germline ? - - - - LOVD
+?/., -/-, -/. 4 5 c.694G>A r.(?), r.? p.(V232I), p.(Val232Ile), p.? - benign, likely pathogenic g.72104798G>A g.71812458G>A c.694G>A, NR2E3(NM_016346.3):c.694G>A (p.V232I) - NR2E3_000044 polymorphism, VKGL data sharing initiative Nederland PubMed: Eisenberger-2013, PubMed: Haider 2000 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 5 c.701G>A r.(?) p.(W234S) - pathogenic g.72104805G>A g.71812465G>A - - NR2E3_000029 deleterious variant, variant 2 unknown: im paired repression (Peng 2005) PubMed: Haider 2000 - - Germline - - - - - Pascal Escher
+/+, +/., ?/. 4 5 c.724_725del r.(?) p.(Ser242Glnfs*17), p.(Ser242GlnfsTer17), p.? - pathogenic, VUS g.72104828_72104829del g.71812488_71812489del c.724_725del - NR2E3_000069, NR2E3_000126 deleterious variant: truncated LBD, VKGL data sharing initiative Nederland Collin 2011, PubMed: Collin-2011, PubMed: Haer-Wigman 2017 - - CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Nijmegen
+?/. 1 5 c.731del r.(?) p.(Leu244Argfs*7) - likely pathogenic g.72104835del g.71812495del 1 more item - NR2E3_000159 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - LOVD
?/. 1 - c.743A>T r.(?) p.(Asp248Val) - VUS g.72104847A>T g.71812507A>T - - NR2E3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 3 5i c.747+1G>C r.(ex6del), r.spl p.(?), p.? - pathogenic, pathogenic (recessive) g.72104852G>C g.71812512G>C IVS5+1G>C - NR2E3_000030 deleterious variant: skipping of exon 6 Sharon, submitted, PubMed: Bandah 2009, PubMed: Sharon 2015, PubMed: Sharon 2019 - - Germline - - - - - Johan den Dunnen, Pascal Escher, Dror Sharon
-/- 1 5i c.747+90C>T r.(=) p.(=) - benign g.72104941C>T g.71812601C>T - - NR2E3_000045 polymorphism PubMed: Bernal 2008 - - Germline - - - - - Pascal Escher
+/+, +/., +?/., ?/. 6 6 c.767C>A r.(?) p.(A256E), p.(Ala256Glu), p.? - likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.72105748C>A g.71813408C>A 15:72105748C>A ENST00000617575.4:c.767C>A (Ala256Glu) - NR2E3_000018 deleterious variant, VKGL data sharing initiative Nederland PubMed: Bryant 2018, PubMed: Carss 2017, PubMed: Sharon 2003, PubMed: Wang 2014 - rs377257254 CLASSIFICATION record, Germline - - - - - Pascal Escher, VKGL-NL_Nijmegen
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