Full data view for gene RGR

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002921.3 transcript reference sequence.

107 entries on 2 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 1 c.-111A>G r.(=) p.(=) Unknown - likely benign g.86004736A>G - c.-111A>G - RGR_000031 - PubMed: Ksantini-2010 - - Germline - 72.0% of 216 patients - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
?/. - c.5C>T r.(?) p.(Ala2Val) Unknown - VUS g.86004851C>T g.84245095C>T - - RGR_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.19C>T r.(?) p.(Leu7=) Unknown - benign g.86004865C>T g.84245109C>T - - RGR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.19C>T r.(=) p.(=) Unknown - benign g.86004865C>T - c.19C>T - RGR_000010 - PubMed: Ksantini-2010 - rs11200938 Germline - 72.0% of 216 patients - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
-/. - c.27T>C r.(?) p.(Thr9=) Unknown - benign g.86004873T>C g.84245117T>C RGR(NM_002921.4):c.27T>C (p.T9=) - RGR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27T>C r.(?) p.(Thr9=) Unknown - benign g.86004873T>C g.84245117T>C RGR(NM_002921.4):c.27T>C (p.T9=) - RGR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.27T>C r.(=) p.(=) Unknown - benign g.86004873T>C - c.27T>C - RGR_000003 - PubMed: Ksantini-2010 - rs2279227 Germline - 72.0% of 216 patients - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
?/. - c.34G>A r.(?) p.(Gly12Arg) Unknown - VUS g.86004880G>A g.84245124G>A RGR(NM_002921.3):c.34G>A (p.G12R) - RGR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.79+59C>T r.(=) p.(=) Unknown - likely benign g.86004984C>T - c.79+59C>T - RGR_000032 - PubMed: Ksantini-2010 - - Germline - 2.0% of 216 patients - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
?/. - c.88G>A r.(?) p.(Gly30Ser) Unknown - VUS g.86007355G>A - RGR(NM_002921.3):c.88G>A (p.G30S) - RGR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110C>T r.(?) p.(Thr37Ile) Unknown - VUS g.86007377C>T g.84247621C>T - - RGR_000013 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs774849552 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
?/. 2 c.123C>T r.(=) p.(=) Unknown - VUS g.86007390C>T - - - RGR_000029 Other changes detected in the proband: rs2279227, rs1042454, rs61730895, rs3526, rs12042179, rs3902057 PubMed: Singh 2009 - - Germline - - - - - DNA PCRm, SEQ blood - retinal disease - PubMed: Singh 2009 - - yes - Indian - - - - 1 LOVD
-?/. - c.183G>A r.(?) p.(Ala61=) Unknown - likely benign g.86007450G>A g.84247694G>A RGR(NM_002921.3):c.183G>A (p.A61=), RGR(NM_002921.4):c.183G>A (p.A61=) - RGR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183G>A r.(?) p.(Ala61=) Unknown - likely benign g.86007450G>A - RGR(NM_002921.3):c.183G>A (p.A61=), RGR(NM_002921.4):c.183G>A (p.A61=) - RGR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196A>C r.(?) p.(Ser66Arg) Unknown - VUS g.86007463A>C g.84247707A>C - - RGR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C - c.196A>C - RGR_000011 - PubMed: Collin-2011 - - Germline - - - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - M - Netherlands - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C g.84247707A>C NM_001012720, c.196A>C, p.Ser66Arg - RGR_000011 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP174, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Parent #1 - likely pathogenic g.86007463A>C g.84247707A>C RGR, variant 1: c.196A>C/p.S66R, variant 2: c.196A>C/p.S66R - RGR_000011 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 712 PubMed: Weisschuh 2020 Filing key number: 266, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Parent #1 - likely pathogenic g.86007463A>C g.84247707A>C RGR, variant 1: c.196A>C/p.S66R, variant 2: c.196A>C/p.S66R - RGR_000011 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 713 PubMed: Weisschuh 2020 Filing key number: 266, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. 2 c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - VUS (!) g.86007463A>C - c.196A>C - RGR_000011 Reevaluation of the previously reported causative status of this variant PubMed: Arno-2016 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Arno-2016 - M no - Albanian - - - - 1 LOVD
?/. 2 c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - VUS (!) g.86007463A>C - c.196A>C - RGR_000011 Reevaluation of the previously reported causative status of this variant PubMed: Arno-2016 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Arno-2016 - F no - Albanian - - - - 1 LOVD
?/. 2 c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - VUS (!) g.86007463A>C - c.196A>C - RGR_000011 Reevaluation of the previously reported causative status of this variant PubMed: Arno-2016 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Arno-2016 - M no - Albanian - - - - 1 LOVD
?/. 2 c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - VUS (!) g.86007463A>C - c.196A>C - RGR_000011 Reevaluation of the previously reported causative status of this variant PubMed: Arno-2016 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Arno-2016 - M no - Albanian - - - - 1 LOVD
+?/. 2 c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C g.84247707A>C RGR c.196A>C, (p.Ser66Arg) - RGR_000011 - PubMed: Mermeklieva 2021 - - Germline yes - - - - DNA SEQ-NG-I - 140 genes associated with inherited retinal diseases retinal disease ? PubMed: Mermeklieva 2021 - F - Bulgaria Balkan - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic (recessive) g.86007463A>C g.84247707A>C RGR Ser66Arg - RGR_000011 heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease 003-186 (II:7) PubMed: Morimura 1999 family E174, individual 003-186 II:7 F - - - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C g.84247707A>C RGR Ser66Arg - RGR_000011 heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease 218-360 (II:6) PubMed: Morimura 1999 family E174, individual 218-360 II:6 F - - - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C g.84247707A>C RGR Ser66Arg - RGR_000011 heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease (II:5) PubMed: Morimura 1999 family E174, individual II:5 M - - - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C g.84247707A>C RGR Ser66Arg - RGR_000011 heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease (II:3) PubMed: Morimura 1999 family E174, individual II:3 F - - - - - - - 1 LOVD
+?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) - likely pathogenic g.86007463A>C g.84247707A>C RGR Ser66Arg - RGR_000011 heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease (II:2) PubMed: Morimura 1999 family E174, individual II:2 F - - - - - - - 1 LOVD
?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) ACMG VUS g.86007463A>C g.84247707A>C - - RGR_000011 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-478 PubMed: Weisschuh 2024 family, 3 affected F - Germany - - - - - 3 Johan den Dunnen
?/. - c.196A>C r.(?) p.(Ser66Arg) Both (homozygous) ACMG VUS g.86007463A>C g.84247707A>C - - RGR_000011 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1128 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.229C>T r.(?) p.(Leu77Phe) Unknown - VUS g.86007496C>T - RGR(NM_002921.3):c.229C>T (p.L77F) - RGR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.236G>A r.(?) p.(Arg79His) Unknown - likely pathogenic g.86007503G>A - c.236G>A - RGR_000042 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 2 c.236G>A r.(?) p.(Arg79His) Unknown - likely pathogenic g.86007503G>A - c.236G>A - RGR_000042 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
?/. 2i_3i c.(236+1_237-1)_(370+1_371-1)del r.? p.? Parent #1 - VUS g.(86007504_86008665)_(86008800_86012612)del - chr10:86008662–86008804 - RGR_000041 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 13013491 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.262G>A r.(?) p.(Gly88Ser) Unknown - likely benign g.86008691G>A g.84248935G>A RGR(NM_002921.3):c.262G>A (p.G88S), RGR(NM_002921.4):c.262G>A (p.G88S) - RGR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262G>A r.(?) p.(Gly88Ser) Unknown - VUS g.86008691G>A - RGR(NM_002921.3):c.262G>A (p.G88S), RGR(NM_002921.4):c.262G>A (p.G88S) - RGR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262G>A r.(?) p.(?) Unknown - VUS g.86008691G>A - NM_001012720.1:c.250G>A - RGR_000017 - PubMed: Wang 2014 - rs116754489 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 49 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+/. - c.266C>A r.(?) p.(Ser89Ter) Parent #1 - pathogenic g.86008695C>A g.84248939C>A - - RGR_000025 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM723 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
+?/. - c.266C>A r.(?) p.(Ser89*) Unknown - VUS (!) g.86008695C>A g.84248939C>A RGR c.266C>A (p.S89*) - RGR_000025 heterozygous; not segregating in the family - wild type in an affected family member, mutation in unaffected PubMed: Li 2016 - - Germline no - - - - DNA SEQ-NG blood - retinal disease HM723I1 PubMed: Li 2016 affected F - - - - - - - 1 LOVD
+?/. - c.266C>A r.(?) p.(Ser89*) Unknown - VUS (!) g.86008695C>A g.84248939C>A RGR c.[=];[=] - RGR_000025 heterozygous; not segregating in the family - wild type in an affected family member, mutation in unaffected PubMed: Li 2016 - - Germline no - - - - DNA SEQ-NG blood - retinal disease HM723II4 PubMed: Li 2016 affected - no mutation F - - - - - - - 1 LOVD
+?/. - c.266C>A r.(?) p.(Ser89*) Unknown - VUS (!) g.86008695C>A g.84248939C>A RGR c.266C>A (p.S89*) - RGR_000025 affected person without the mutation PubMed: Li 2016 - - Germline no - - - - DNA SEQ-NG blood - retinal disease HM723II4 PubMed: Li 2016 unaffected - mutant M - - - - - - - 1 LOVD
?/. - c.269A>G r.(?) p.(Asp90Gly) Unknown - VUS g.86008698A>G g.84248942A>G - - RGR_000026 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP369 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. 3 c.286G>A r.(?) p.(Gly96Ser) Unknown - VUS g.86008715G>A - NM_001012720G274A - RGR_000028 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.286G>A r.(?) p.(Gly96Ser) Unknown ACMG VUS g.86008715G>A g.84248959G>A - - RGR_000028 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-447 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.330T>C r.(?) p.(Ser110=) Unknown - benign g.86008759T>C g.84249003T>C RGR(NM_002921.3):c.330T>C (p.S110=), RGR(NM_002921.4):c.330T>C (p.S110=) - RGR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330T>C r.(?) p.(Ser110=) Unknown - likely benign g.86008759T>C g.84249003T>C RGR(NM_002921.3):c.330T>C (p.S110=), RGR(NM_002921.4):c.330T>C (p.S110=) - RGR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349C>T r.(?) p.(Arg117Cys) Unknown ACMG VUS g.86008778C>T g.84249022C>T - - RGR_000046 ACMG PM2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? SRP-1219 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.350G>A r.(?) p.(Arg117His) Both (homozygous) - VUS g.86008779G>A g.84249023G>A - - RGR_000022 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR396 PubMed: Riazuddin 2017 family, 2 affected - yes Pakistan Punjabi - - - - 2 Johan den Dunnen
-?/. - c.371-15C>A r.(=) p.(=) Unknown - likely benign g.86012598C>A g.84252842C>A RGR(NM_002921.4):c.371-15C>A - RGR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.371G>A r.(?) p.(Arg124His) Unknown - pathogenic g.86012613G>A g.84252857G>A - - RGR_000002 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+?/. - c.371G>A r.(?) p.(Arg124His) Parent #1 ACMG likely pathogenic g.86012613G>A g.84252857G>A RGR NM_001012720: g.3980G>A, c.359G>A, p.R120H - RGR_000002 different transcript: NM_001012722.1(RGR):c.359G>A PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19664 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
?/. - c.397G>A r.(?) p.(Val133Ile) Unknown ACMG VUS g.86012639G>A g.84252883G>A RGR:NM_002921 c.G397A, p.V133I - RGR_000040 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-325 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.404T>C r.(?) p.(Leu135Pro) Unknown - VUS g.86012646T>C g.84252890T>C - - RGR_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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
+?/. 4 c.454C>A r.(?) p.(Leu152Met) Unknown - likely pathogenic g.86012696C>A - c.454C>A - RGR_000043 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. - c.466C>A r.(?) p.(His156Asn) Parent #1 - likely pathogenic g.86012708C>A g.84252952C>A NM_001012720.1:c.454C>A - RGR_000021 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. 4 c.466C>A r.(?) p.(His156Asn) Unknown - likely pathogenic g.86012708C>A - c.466C>A - RGR_000021 - PubMed: Eisenberger-2013 - rs150808273 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
-/. 4 c.466C>A r.(?) p.(His156Asn) Unknown - benign (dominant) g.86012708C>A - c.466C>A - RGR_000021 - PubMed: Ksantini-2010 - - Germline - 0.5% of 216 patients; 0/100 controls - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
-/. 4 c.466C>A r.(?) p.(His156Asn) Unknown - benign (recessive) g.86012708C>A - c.466C>A - RGR_000021 - PubMed: Ksantini-2010 - - Germline - 0.5% of 216 patients; 0/100 controls - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
-?/. - c.466C>A r.(?) p.(His156Asn) Unknown - likely benign g.86012708C>A - RGR(NM_002921.3):c.466C>A (p.H156N) - RGR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471C>T r.(?) p.(Tyr157=) Unknown - benign g.86012713C>T g.84252957C>T RGR(NM_002921.4):c.471C>T (p.Y157=) - RGR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471C>T r.(?) p.(Tyr157=) Unknown - benign g.86012713C>T g.84252957C>T RGR(NM_002921.4):c.471C>T (p.Y157=) - RGR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.474C>T r.(=) p.(=) Unknown - likely benign g.86012716C>T - c.474C>T - RGR_000034 - PubMed: Ksantini-2010 - - Germline - 46.0% of 216 patients - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
+?/. - c.498C>A r.(?) p.(Cys166Ter) Unknown - likely pathogenic g.86012740C>A g.84252984C>A NM_001012722.1:c.486C>A - chr10_006538 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.500C>T r.(?) p.(Thr167Ile) Unknown - VUS g.86012742C>T g.84252986C>T - - RGR_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.505G>T r.(?) p.(Asp169Tyr) Unknown - VUS g.86012747G>T g.84252991G>T RGR(NM_002921.3):c.505G>T (p.D169Y), RGR(NM_002921.4):c.505G>T (p.D169Y) - RGR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505G>T r.(?) p.(Asp169Tyr) Unknown - VUS g.86012747G>T g.84252991G>T RGR(NM_002921.3):c.505G>T (p.D169Y), RGR(NM_002921.4):c.505G>T (p.D169Y) - RGR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505G>T r.(?) p.(Asp169Tyr) Unknown - VUS g.86012747G>T g.84252991G>T - - RGR_000018 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71808 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
-?/. - c.544T>C r.(?) p.(Phe182Leu) Unknown - likely benign g.86014101T>C g.84254345T>C RGR(NM_002921.3):c.544T>C (p.F182L) - RGR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556_576del r.(?) p.(Phe186_Pro192del) Unknown - VUS g.86014113_86014133del - RGR(NM_002921.3):c.556_576delTTCTTCAACTTCGCCATGCCC (p.F186_P192del) - RGR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.642+10C>T r.(=) p.(=) Unknown - VUS g.86014209C>T g.84254453C>T - - RGR_000027 - PubMed: Xu 2014 - rs192139791 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP267 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. 5i c.642+16G>A r.(?) p.? Unknown - likely benign g.86014215G>A - c.642+16G>A - RGR_000035 - PubMed: Ksantini-2010 - - Germline - 7.0% of 216 patients - - - DNA SEQ, DHPLC - - retinal disease - PubMed: Ksantini-2010 - - - France - - - - - 1 LOVD
-?/. - c.697A>C r.(?) p.(Ile233Leu) Unknown - likely benign g.86017703A>C g.84257947A>C RGR(NM_002921.3):c.697A>C (p.I233L) - RGR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.734C>T r.(?) p.(Ser245Phe) Unknown - benign g.86017740C>T g.84257984C>T - - RGR_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61730895 Germline - 208/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 208 Yoshito Koyanagi
-/. - c.734C>T r.(?) p.(Ser245Phe) Both (homozygous) - benign g.86017740C>T g.84257984C>T - - RGR_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61730895 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
+?/. - c.734C>T r.(?) p.(Ser245Phe) Parent #1 - likely pathogenic g.86017740C>T g.84257984C>T NM_001012720.1:c.454C>A - RGR_000016 - PubMed: Holtan 2020 - - Germline - 7/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 7 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 7 Global Variome, with Curator vacancy
+?/. 6 c.734C>T r.(?) p.(Ser245Phe) Parent #1 - likely pathogenic g.86017740C>T - C734T - RGR_000016 - PubMed: Mandal 2005 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Mandal 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.734_735del r.(?) p.(Ser245Tyrfs*29) Unknown - VUS (!) g.86017740_86017741del g.84257984_84257985del RGR c.722_723delCC (p.S242Yfs*29) - RGR_000045 heterozygous; not segregating in the family - mutation in unaffected family member, error in annotationm this change according to sequence is c.734_735del, p.(Ser245Tyrfs*29) PubMed: Li 2016 - - Germline no - - - - DNA SEQ-NG blood - retinal disease HM824II2 PubMed: Li 2016 affected M - - - - - - - 1 LOVD
+?/. - c.734_735del r.(?) p.(Ser245Tyrfs*29) Unknown - VUS (!) g.86017740_86017741del g.84257984_84257985del RGR c.722_723delCC (p.S242Yfs*29) - RGR_000045 heterozygous; not segregating in the family - mutation in unaffected family member, error in annotationm this change according to sequence is c.734_735del, p.(Ser245Tyrfs*29) PubMed: Li 2016 - - Germline no - - - - DNA SEQ-NG blood - retinal disease HM824I1 PubMed: Li 2016 unaffected - mutant M - - - - - - - 1 LOVD
-/. 6i c.756+5A>G r.(spl?) p.(?) Parent #1 - benign g.86017767A>G g.84258011A>G - - RGR_000001 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 6i c.756+5A>G r.(spl?) p.(?) Parent #1 - benign g.86017767A>G g.84258011A>G - - RGR_000001 predicted benign; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-?/. - c.756+5A>G r.spl? p.? Unknown - likely benign g.86017767A>G g.84258011A>G RGR(NM_002921.3):c.756+5A>G, RGR(NM_002921.4):c.756+5A>G - RGR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.756+5A>G r.spl? p.? Unknown - benign g.86017767A>G g.84258011A>G RGR(NM_002921.3):c.756+5A>G, RGR(NM_002921.4):c.756+5A>G - RGR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.756+5A>G r.spl p.? Parent #1 - likely pathogenic g.86017767A>G g.84258011A>G NM_001012720.1:c.454C>A - RGR_000001 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
?/. - c.756+5A>G r.spl? p.(?) Unknown - VUS g.86017767A>G - NM_001012720.1:c.744+5A>G - RGR_000001 - PubMed: Wang 2014 - rs143720091 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 63 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-?/. 6i c.756+5A>G r.spl? p.? Unknown - likely benign g.86017767A>G - c.756+5A>G - RGR_000001 - PubMed: González-del Pozo-2011 - - Germline - - - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - - - - 1 LOVD
+?/. 6i c.756+5A>G r.spl? p.? Unknown - likely pathogenic g.86017767A>G - c.756+5A>G - RGR_000001 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
-/. 6i c.760-38C>T r.spl? p.? Both (homozygous) - benign g.86018229C>T - - - RGR_000030 - PubMed: Singh 2009 - - Germline - - - - - DNA PCRm, SEQ blood - retinal disease - PubMed: Singh 2009 - - yes - Indian - - - - 1 LOVD
-?/. - c.762C>A r.(?) p.(Pro254=) Unknown - likely benign g.86018269C>A - RGR(NM_002921.3):c.762C>A (p.P254=) - RGR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821A>G r.(?) p.(Glu274Gly) Unknown - VUS g.86018328A>G g.84258572A>G RGR(NM_002921.4):c.821A>G (p.E274G) - RGR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.833_834insG r.(?) p.(Ile280Asnfs*78) Unknown - pathogenic (dominant) g.86018340_86018341insG - 10:86018339A>AG ENST00000359452.4:c.836dupG (Ile280AsnfsTer78) - RGR_000023 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001408 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.836dup r.(?) p.(Ile280Asnfs*78) Parent #1 - pathogenic (dominant) g.86018343dup g.84258587dup NM_001012720.1:c.824dup (I276N*77) - RGR_000024 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD2–01 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+/. - c.836dup r.(?) p.(Ile280Asnfs*78) Unknown - pathogenic g.86018343dup g.84258587dup RGR c.836dupG, p.Ile280AsnfsTer78 - RGR_000024 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001408 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Unknown - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: III-6 PubMed: Ba-Abbad 2018 Family WVU, individual III-6 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Unknown - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: III-8 PubMed: Ba-Abbad 2018 Family WVU, individual III-8 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Maternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: IV-2 PubMed: Ba-Abbad 2018 Family WVU, individual IV-2 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: IV-5 PubMed: Ba-Abbad 2018 Family WVU, individual IV-5 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: IV-6 PubMed: Ba-Abbad 2018 Family WVU, individual IV-6 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (inferred) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease MEH-GC4177:IV-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual IV-1 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Maternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease MEH-GC4177:V-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual V-1 F - - - - - - - 1 LOVD
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