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.

1164 entries on 12 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     
-/. - c.-123C>G r.(?) p.(=) Unknown - benign g.10512511G>C g.10655001G>C - - RP1L1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-20+10500_*13958del r.0? p.0? Unknown ACMG likely pathogenic g.10450447_10501908del - - - RP1L1_000568 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-815 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
?/. _2_3i c.(?_-19-1)_(751+1_752-1){0} r.? p.0? Parent #1 - VUS g.(10470857_10473955)_(10480716_?)del - chr8:10473951–10480716 - RP1L1_000499 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14020099 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.? r.(?) p.(Q2373*) Unknown - pathogenic g.? - p.Q2373* - RP1_000000 - PubMed: Liu 2017 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Liu 2017 - - - - - - - - - 1 LOVD
+/. - c.? r.(?) p.( Q2373*) Unknown - pathogenic g.? - p.Q2373* - RP1_000000 - PubMed: Liu 2017 - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Liu 2017 - - - - - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic g.10445159_10466425del - - - RP1_000000 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-320 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.25C>T r.(?) p.(Gln9*) Unknown - pathogenic g.10480687G>A g.10623177G>A - - RP1L1_000292 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.29C>T r.(?) p.(Ala10Val) Unknown - likely benign g.10480683G>A - RP1L1(NM_178857.5):c.29C>T (p.A10V) - RP1L1_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - VUS g.10480680G>A g.10623170G>A - - RP1L1_000291 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199642627 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.32C>T r.(?) p.(Pro11Leu) Unknown - benign g.10480680G>A g.10623170G>A RP1L1(NM_178857.5):c.32C>T (p.(Pro11Leu)), RP1L1(NM_178857.6):c.32C>T (p.P11L) - RP1L1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - VUS g.10480680G>A g.10623170G>A RP1L1 c.32C>T, p.P11L - RP1L1_000291 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-074 PubMed: Ng 2021 - M ? China - - - - - 1 LOVD
+?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - likely pathogenic g.10480680G>A g.10623170G>A RP1L1(NM_178857.5):c.32C>T(p.P11L) - RP1L1_000291 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 172 - - - DNA SEQ-NG-I blood - ? WHP72 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
-?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - likely benign g.10480680G>A - RP1L1(NM_178857.5):c.32C>T (p.(Pro11Leu)), RP1L1(NM_178857.6):c.32C>T (p.P11L) - RP1L1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.56C>A r.(?) p.(Pro19His) Unknown - likely pathogenic g.10480656G>T g.10623146G>T c.56C>A p.Pro19His - RP1L1_000492 - PubMed: Hu 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood Whole exome sequencing retinal disease EQT38_II:1 PubMed: Hu 2019 - F no - - - - - - 1 LOVD
?/. - c.67C>G r.(?) p.(Arg23Gly) Unknown - VUS g.10480645G>C g.10623135G>C RP1L1 c.67C>G, p.R23G - RP1L1_000517 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-046 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
?/. - c.67C>T r.(?) p.(Arg23Cys) Unknown - VUS g.10480645G>A g.10623135G>A RP1L1(NM_178857.5):c.67C>T (p.R23C) - RP1L1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77C>T r.(?) p.(Ser26Leu) Unknown - benign g.10480635G>A g.10623125G>A - - RP1L1_000290 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185749010 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.77C>T r.(?) p.(Ser26Leu) Parent #1 - likely benign g.10480635G>A g.10623125G>A - - RP1L1_000290 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185749010 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.92C>T r.(?) p.(Thr31Met) Unknown - VUS g.10480620G>A g.10623110G>A RP1L1(NM_178857.5):c.92C>T (p.T31M) - RP1L1_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92C>T r.(?) p.(Thr31Met) Both (homozygous) - benign g.10480620G>A g.10623110G>A - - RP1L1_000386 - PubMed: Zeitz 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease F7544PatCIC13094 PubMed: Zeitz 2024 2-generation family, affected brother/sister, unaffected parents F yes Tunisia - - - - - 2 Johan den Dunnen
?/. - c.94C>T r.(?) p.(Pro32Ser) Unknown - VUS g.10480618G>A g.10623108G>A - - RP1L1_000289 - 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.121C>T r.(?) p.(Arg41*) Parent #2 ACMG pathogenic g.10480591G>A g.10623081G>A RP1L1 c.[121C>T];[485del], V2: c.121C>T, (p.Arg41Ter) - RP1L1_000521 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F145 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.121C>T r.(?) p.(Arg41Ter) Parent #2 - pathogenic g.10480591G>A g.10623081G>A RP1L1 c.[121C>T];[485del]; p.(Arg41Ter) - RP1L1_000521 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.00066; GnomAD_exome_East: 0.00078; GnomAD_All: 0.000191 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F145 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-?/. - c.130C>G r.(?) p.(Pro44Ala) Unknown - likely benign g.10480582G>C g.10623072G>C RP1L1(NM_178857.5):c.130C>G (p.P44A) - RP1L1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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
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