Full data view for gene RP1L1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_178857.5 transcript reference sequence.

185 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     
?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - - - - - DNA SEQ - - OCMD OD13 PubMed: Davidson 2013 family, 3 affected F - United Kingdom (Great Britain) Europe, white - - - - 3 Alice Davidson
?/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - - - - - DNA SEQ - - OCMD OD16 PubMed: Davidson 2013 no family history M - United Kingdom (Great Britain) Europe, white - - - - 1 Alice Davidson
?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - - - - - DNA SEQ - - OCMD OD20 PubMed: Davidson 2013 family, affected father/son M - United Kingdom (Great Britain) Europe, white - - - - 2 Alice Davidson
?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - - - - - DNA SEQ - - OCMD OD24 PubMed: Davidson 2013 family, affected brother/sister M - United Kingdom (Great Britain) Europe, white - - - - 2 Alice Davidson
?/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - - - - - DNA SEQ - - OCMD OD27 PubMed: Davidson 2013 no family history M - United Kingdom (Great Britain) Asia-South - - - - 1 Alice Davidson
+?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A g.10623069G>A RP1L1(NM_178857.5):c.133C>T (p.R45W), RP1L1(NM_178857.6):c.133C>T (p.R45W) - RP1L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A g.10623069G>A RP1L1(NM_178857.5):c.133C>T (p.R45W), RP1L1(NM_178857.6):c.133C>T (p.R45W) - RP1L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A g.10623069G>A RP1L1(NM_178857.5):c.133C>T (p.R45W), RP1L1(NM_178857.6):c.133C>T (p.R45W) - RP1L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic (dominant) g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat181 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic (dominant) g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat182 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic (dominant) g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD10–02 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - RP1L1_000006 - - - DNA SEQ - - OCMD - PubMed: Davidson 2013 father of OD13 M - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - RP1L1_000006 - - - DNA SEQ - - OCMD - PubMed: Davidson 2013 brother of OD13 M - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - RP1L1_000006 - - - DNA SEQ - - OCMD - PubMed: Davidson 2013 father of OD20 M - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - VUS g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Davidson 2013 - - Germline - RP1L1_000006 - - - DNA SEQ - - OCMD - PubMed: Davidson 2013 sister of OD24 F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Fujinami 2016 - - Germline - - - - - DNA SEQ-NG - WES OCMD Fam1PatIII2 PubMed: Fujinami 2016 family, 2 affected F - Japan - - - - - 2 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Fujinami 2016 - - Germline - - - - - DNA SEQ-NG - WES OCMD Fam1PatII2 PubMed: Fujinami 2016 - F - Japan - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Fujinami 2016 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES OCMD Fam2PatII1 PubMed: Fujinami 2016 - F - Japan - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Fujinami 2016 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES OCMD Fam3PatII1 PubMed: Fujinami 2016 - M - Japan - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Fujinami 2016 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES OCMD Fam10PatII4 PubMed: Fujinami 2016 - F - Japan - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic (dominant) g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease MDS234 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic (dominant) g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease ZD218 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic (dominant) g.10480579G>A g.10623069G>A - - RP1L1_000006 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease ZD302 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 234 PubMed: Weisschuh 2020 Filing key number: 81, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 235 PubMed: Weisschuh 2020 Filing key number: 81, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 368 PubMed: Weisschuh 2020 Filing key number: 123, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 478 PubMed: Weisschuh 2020 Filing key number: 156, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W, variant 2: c.133C>T/p.R45W - RP1L1_000006 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 612 PubMed: Weisschuh 2020 Filing key number: 220, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 645 PubMed: Weisschuh 2020 Filing key number: 231, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 649 PubMed: Weisschuh 2020 Filing key number: 233, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 650 PubMed: Weisschuh 2020 Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 651 PubMed: Weisschuh 2020 Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 652 PubMed: Weisschuh 2020 Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 653 PubMed: Weisschuh 2020 Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 654 PubMed: Weisschuh 2020 Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 655 PubMed: Weisschuh 2020 Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 674 PubMed: Weisschuh 2020 Filing key number: 243, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 700 PubMed: Weisschuh 2020 Filing key number: 259, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 701 PubMed: Weisschuh 2020 Filing key number: 259, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 709 PubMed: Weisschuh 2020 Filing key number: 263, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 724 PubMed: Weisschuh 2020 Filing key number: 271, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 725 PubMed: Weisschuh 2020 Filing key number: 271, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 734 PubMed: Weisschuh 2020 Filing key number: 280, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 745 PubMed: Weisschuh 2020 Filing key number: 288, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 746 PubMed: Weisschuh 2020 Filing key number: 288, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 754 PubMed: Weisschuh 2020 Filing key number: 291, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 937 PubMed: Weisschuh 2020 Filing key number: 410, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 1008 PubMed: Weisschuh 2020 Filing key number: 485, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1009 PubMed: Weisschuh 2020 Filing key number: 485, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic g.10480579G>A g.10623069G>A RP1L1, variant 1: c.133C>T/p.R45W - RP1L1_000006 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1010 PubMed: Weisschuh 2020 Filing key number: 485, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - VUS g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Agange-2017 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Agange-2017 - M - - chinese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A g.10623069G>A RP1L1 c.133C>T, p.Arg45Trp - RP1L1_000006 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 169 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A g.10623069G>A RP1L1 c.133C>T, p.Arg45Trp - RP1L1_000006 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 170 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown ACMG VUS g.10480579G>A g.10623069G>A RP1L1 c.[133C>T];[133=], V1: c.133C>T, (p.Arg45Trp) - RP1L1_000006 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F170 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown ACMG VUS g.10480579G>A g.10623069G>A RP1L1 c.[133C>T];[133=], V1: c.133C>T, (p.Arg45Trp) - RP1L1_000006 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F142 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown ACMG VUS g.10480579G>A g.10623069G>A RP1L1 c.[133C>T];[133=], V1: c.133C>T, (p.Arg45Trp) - RP1L1_000006 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F012 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.133C>T r.(?) p.(Arg45Trp) Unknown ACMG likely pathogenic (dominant) g.10480579G>A - - - RP1L1_000006 ACMG: PS4, PM2_SUP, PP1, PP3 PMID: 20826268, 30025130, VCV000002193.23 - Germline ? - - - - DNA SEQ-NG-I - - OCMD 184775 - - F no Germany - - - - - 1 Andreas Laner
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012, PubMed: Kato 2017 - - Germline - - - - - DNA ? - - retinal disease 1 PubMed: Tsunoda 2012, PubMed: Kato 2017 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 2 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 3 PubMed: Tsunoda 2012 - M - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 4 PubMed: Tsunoda 2012 - M - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 5 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 6 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 7 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 8 PubMed: Tsunoda 2012 - M - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 9 PubMed: Tsunoda 2012 - M - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 10 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 11 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 12 PubMed: Tsunoda 2012 - M - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 13 PubMed: Tsunoda 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Tsunoda 2012 - - Germline - - - - - DNA ? - - retinal disease 14 PubMed: Tsunoda 2012 - M - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Hayashi 2012 - - Germline - - - - - DNA PCR, SEQ venous blood - retinal disease II-1 PubMed: Hayashi 2012 - F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Both (homozygous) - likely pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Hayashi 2012 - - Germline - - - - - DNA PCR, SEQ venous blood - retinal disease I-2 PubMed: Hayashi 2012 Mother of II-1 F - Japan Japanese - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A - Arg45Trp - RP1L1_000006 - PubMed: Okuno 2013 - - Unknown - - - - - DNA ? - - retinal disease - PubMed: Okuno 2013 - F - Japan Japanese - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 1 PubMed: Ahn 2013 - M - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 3 PubMed: Ahn 2013 - M - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 4 PubMed: Ahn 2013 - M - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 6 PubMed: Ahn 2013 - M - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 7 PubMed: Ahn 2013 - F - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 14 PubMed: Ahn 2013 - M - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T - RP1L1_000006 - PubMed: Ahn 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 19 PubMed: Ahn 2013 - M - Korea korean - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T:(p.Arg45Trp) - RP1L1_000006 - PubMed: Ziccardi 2015 - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG - - retinal disease - PubMed: Ziccardi 2015 - F;M - (Italy) - - - - - 4 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Nakanishi 2015 - - Germline - - - - - DNA PCR, SEQ peripheral white blood cells - retinal disease 1 PubMed: Nakanishi 2015 - F - Japan - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Nakanishi 2015 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 2 PubMed: Nakanishi 2015 - M - Japan - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Nakanishi 2015 - - Germline - - - - - DNA PCR, SEQ - - retinal disease 3 PubMed: Nakanishi 2015 - F - Japan - - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Piermarocchi 2016 - - Germline - - - - - DNA PCR, SEQ - - retinal disease II 1 PubMed: Piermarocchi 2016 - M - Italy Caucasian - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Paternal (inferred) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Piermarocchi 2016 - - Germline - - - - - DNA PCR, SEQ - - retinal disease III 1 PubMed: Piermarocchi 2016 - M - Italy Caucasian - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Paternal (inferred) - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Piermarocchi 2016 - - Germline - - - - - DNA PCR, SEQ - - retinal disease III 2 PubMed: Piermarocchi 2016 - M - Italy Caucasian - - - - 1 LOVD
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - likely pathogenic g.10480579G>A - p.Arg45Trp - RP1L1_000006 - PubMed: Fu 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Fu 2019 - M - (Taiwan) - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - p.R45W - RP1L1_000006 - PubMed: Kato 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease F1-KA290 PubMed: Kato 2017 - F - - - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - p.R45W - RP1L1_000006 - PubMed: Kato 2017 - - Unknown - - - - - DNA SEQ-NG - - Healthy/Control F1-KA291 PubMed: Kato 2017 - F - - - - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease 1-II:1 PubMed: Fujinami 2019 - F - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease 2-III:2 PubMed: Fujinami 2019 - F - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease 2-II:2 PubMed: Fujinami 2019 - F - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease 3-III:1 PubMed: Fujinami 2019 - F - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease 3-II:1 PubMed: Fujinami 2019 - F - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ-NG - - retinal disease 3-II:3 PubMed: Fujinami 2019 - F - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ - - retinal disease 4-III:1 PubMed: Fujinami 2019 - M - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ - - retinal disease 4-III:2 PubMed: Fujinami 2019 - M - - Asian - - - - 1 LOVD
+/. 2 c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.10480579G>A - c.133C>T, p.Arg45Trp - RP1L1_000006 - PubMed: Fujinami 2019 - - Germline - - - - - DNA SEQ - - retinal disease 4-II:2 PubMed: Fujinami 2019 - M - - Asian - - - - 1 LOVD
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