Full data view for gene RP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006269.1 transcript reference sequence.

1494 entries on 15 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.-315T>C r.(=) p.(=) Parent #1 - benign g.55528460T>C g.54615900T>C - - RP1_000000 not found in controls PubMed: Bowne 1999 - - Germline no - - - - DNA SEQ - - retinal disease - - seen in 4 affecteds - - - - - - - - 4 Johan den Dunnen
?/. 1 c.-51A>G r.(=) p.(=) Parent #1 - VUS g.55528724A>G g.54616164A>G 1-51A>G - RP1_000030 - PubMed: Audo 2012 - - Germline - - - - - DNA SEQ - - RPad - - - - - France - - - - - 1 Christina Zeitz
+?/. 4 c.-12-1825_6365del r.0? p.0? Both (homozygous) - likely pathogenic (recessive) g.55531690_55542807del g.54619130_54630247del RP1 chr8:55,531,690-55, 542, 807del - RP1_000455 homozygous PubMed: Kabir 2016 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease 11 PubMed: Kabir 2016 family PKRP358 M - Pakistan Punjab Pakistani - - - - 1 LOVD
+?/. 4 c.-12-1825_6365del r.0? p.0? Both (homozygous) - likely pathogenic (recessive) g.55531690_55542807del g.54619130_54630247del RP1 chr8:55,531,690-55, 542, 807del - RP1_000455 homozygous PubMed: Kabir 2016 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease 15 PubMed: Kabir 2016 family PKRP358 F - Pakistan Punjab Pakistani - - - - 1 LOVD
+?/. 4 c.-12-1825_6365del r.0? p.0? Both (homozygous) - likely pathogenic (recessive) g.55531690_55542807del g.54619130_54630247del RP1 chr8:55,531,690-55, 542, 807del - RP1_000455 homozygous PubMed: Kabir 2016 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease 16 PubMed: Kabir 2016 family PKRP358 M - Pakistan Punjab Pakistani - - - - 1 LOVD
+?/. 4 c.-12-1825_6365del r.0? p.0? Both (homozygous) - likely pathogenic (recessive) g.55531690_55542807del g.54619130_54630247del RP1 chr8:55,531,690-55, 542, 807del - RP1_000455 homozygous PubMed: Kabir 2016 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease 17 PubMed: Kabir 2016 family PKRP358 M - Pakistan Punjab Pakistani - - - - 1 LOVD
+?/. 1i_4 c.-12-1431_*286del r.? p.? Parent #1 - likely pathogenic g.55532084_55543199del - c.-12-1431_*286del - RP1_000414 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 1i_4 c.-12-1431_*286del r.? p.? Parent #1 - likely pathogenic g.55532084_55543199del - c.-12-1431_*286del - RP1_000414 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
-/. 1 c.? r.(?) p.(=) Unknown - benign g.? - 1-39A>G - RP1_000000 not in 200 control chromosomes PubMed: Payne 2000 - - Germline - 1/266 cases - - - DNA SEQ - - retinal disease - - - - - - - - - - - 1 Johan den Dunnen
-?/. - c.? r.(?) p.? Parent #1 - likely benign g.? - AF143222:6098A>G (TAT?TGT) Cys2033Tyr - RP1_000000 - PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.(?) p.(Arg677*) Unknown - pathogenic g.? - p.Arg677Stop - RP1_000000 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - DNA arraySNP blood adRP genotyping microarray retinal disease - PubMed: Blanco-Kelly-2012 - - - Spain spanish - - - - 1 LOVD
+/. - c.? r.(?) p.(Lys705fs*711) Unknown - pathogenic g.? - p.Lys705fsX711 - RP1_000000 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - DNA arraySNP blood adRP genotyping microarray retinal disease - PubMed: Blanco-Kelly-2012 - - - Spain spanish - - - - 1 LOVD
+/. - c.? r.(?) p.(Cys744*) Unknown - pathogenic g.? - p.Cys744Stop - RP1_000000 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - DNA arraySNP blood adRP genotyping microarray retinal disease - PubMed: Blanco-Kelly-2012 - - - Spain spanish - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.55532080_55543196del - chr8:g.55532080_55543196del - RP1_000000 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001430 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 2 c.6_7del r.(?) p.(Ser2Argfs*16) Maternal (confirmed) - pathogenic g.55533532_55533533del g.54620972_54620973del 5_6delGT - RP1_000001 - PubMed: Chen 2010 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chen 2010 also found in affected sister II.6, never both variants in unaffected family members suggesting autosmal recessive RP F - China - - - - - 2 Christina Zeitz
+?/. 2 c.20del r.(?) p.(Thr7Metfs*21) Unknown - likely pathogenic (recessive) g.55533546del - c.20delC - RP1_000429 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.71dup r.(?) p.(Arg25SerfsTer37) Unknown - pathogenic g.55533597dup g.54621037dup RP1(NM_006269.2):c.71dupC (p.R25Sfs*37) - RP1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71dup r.(?) p.(Arg25Serfs*37) Both (homozygous) - likely pathogenic (dominant) g.55533597dup g.54621037dup RP1 c.71dup, p.Arg25Serfs*37 - RP1_000130 homozygous, mother affected, father - consanguinity, status unknown PubMed: Verbakel 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease S-III:4 PubMed: Verbakel 2019 family S, proband F - - white - - - - 1 LOVD
+?/. 2 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), FAM161A: Ex.2 c.357del p.(Asp119Glufs*5) - RP1_000131 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2165 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 2 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic (recessive) g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 c.93_105del13ins3, p.His31GlnfsX47 - RP1_000131 homozygous Lafont 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease II:2 Lafont 2011 family RP94, proband M yes France - - - - - 1 LOVD
+?/. 2 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic (recessive) g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 c.93_105del13ins3, p.His31GlnfsX47 - RP1_000131 homozygous Lafont 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease II:4 Lafont 2011 family RP94, proband's brother 3 M yes France - - - - - 1 LOVD
+?/. 2 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic (recessive) g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 c.93_105del13ins3, p.His31GlnfsX47 - RP1_000131 homozygous Lafont 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease II:5 Lafont 2011 family RP94, proband's sister 1 F yes France - - - - - 1 LOVD
+?/. 4 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic (recessive) g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 c.93_105del13ins3, p.H31Qfs*47 - RP1_000131 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-94/1 PubMed: Chassine 2015 - ? - Morocco - - - - - 1 LOVD
+?/. 4 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic (recessive) g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 c.93_105del13ins3, p.H31Qfs*47 - RP1_000131 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-94/2 PubMed: Chassine 2015 - ? - Morocco - - - - - 1 LOVD
+?/. 4 c.93_105delinsAAA r.(?) p.(His31Glnfs*47) Both (homozygous) - likely pathogenic (recessive) g.55533619_55533631delinsAAA g.54621059_54621071delinsAAA RP1 c.93_105del13ins3, p.H31Qfs*47 - RP1_000131 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-94/3 PubMed: Chassine 2015 - ? - Morocco - - - - - 1 LOVD
+/. - c.121T>C r.(?) p.(Tyr41His) Parent #2 - pathogenic (recessive) g.55533647T>C g.54621087T>C - - RP1_000273 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat18 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
?/. - c.121T>C r.(?) p.(Tyr41His) Unknown - VUS g.55533647T>C g.54621087T>C - - RP1_000273 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13017782 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.121T>C r.(?) p.(Tyr41His) Unknown ACMG likely pathogenic g.55533647T>C g.54621087T>C RP1 c.121T>C, p.(Tyr41His) - RP1_000273 heterozygous PubMed: Huckfeldt 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease CEI29345 PubMed: Huckfeldt 2020 - M - - - - - - - 1 LOVD
+?/. 2 c.122A>G r.(?) p.(Tyr41Cys) Unknown - likely pathogenic (recessive) g.55533648A>G - c.122A>G - RP1_000430 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.126G>A r.(?) p.(Lys42Asn) Parent #1 ACMG likely pathogenic g.55533652G>A g.54621092G>A RP1 c.126G>A, p.(Lys42Asn) - RP1_000482 heterozygous PubMed: Huckfeldt 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE5 PubMed: Huckfeldt 2020 - F - - - - - - - 1 LOVD
+?/. - c.139dup r.(?) p.(Gln47Profs*15) Unknown ACMG likely pathogenic g.55533665dup g.54621105dup RP1 c.139dup, p.(Gln47Profs*15) - RP1_000483 heterozygous PubMed: Huckfeldt 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease CEI24459 PubMed: Huckfeldt 2020 - F - - - - - - - 1 LOVD
+?/. - c.143delT r.(?) p.(Phe48Serfs*33) Both (homozygous) - likely pathogenic g.55533669del g.54621109del RP1 c.143delT (p.Phe48Serfs*33) - RP1_000484 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease S2_III:1 PubMed: Riera 2020 family S2, individual III:1 - - - - - - - - 1 LOVD
+?/. - c.143delT r.(?) p.(Phe48Serfs*33) Maternal (inferred) - likely pathogenic g.55533669del g.54621109del RP1 c.143delT (p.Phe48Serfs*33) - RP1_000484 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease S3_III:2 PubMed: Riera 2020 family S3, individual III:2 - - - - - - - - 1 LOVD
+?/. - c.143delT r.(?) p.(Phe48Serfs*33) Maternal (inferred) - likely pathogenic g.55533669del g.54621109del RP1 c.143delT (p.Phe48Serfs*33) - RP1_000484 heterozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease S3_III:3 PubMed: Riera 2020 family S3, individual III:3 - - - - - - - - 1 LOVD
+?/. 2 c.148G>C r.(?) p.(Gly50Arg) Unknown - likely pathogenic g.55533674G>C - c.148G>C - RP1_000341 - PubMed: O'Sullivan-2012 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 2 c.149_168delinsAGACCCCCAATT r.(?) p.(Gly50Glufs*9) Unknown - likely pathogenic g.55533675_55533694delinsAGACCCCCAATT g.54621115_54621134delinsAGACCCCCAATT RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.2 c.149_168delinsAGACCCCCAATT p.(Gly50Glufs*9) - RP1_000382 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-1537 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.151dupG r.(?) p.(Val51Glyfs*11) Maternal (confirmed) - likely pathogenic g.55533677dup g.54621117dup RP1 c.151dupG (p.Val51Glyfs*11) - RP1_000485 heterozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease S4_III:2 PubMed: Riera 2020 family S4, individual III:2 - - - - - - - - 1 LOVD
+?/. - c.160del r.(?) p.(Val54Trpfs*27) Parent #1 - likely pathogenic g.55533686del g.54621126del c.160delG - RP1_000251 - 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.160del r.(?) p.(Val54Trpfs*27) Both (homozygous) - likely pathogenic g.55533686del g.54621126del RP1 c.160delG, p.Val54fs - RP1_000251 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, homozygous PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 1 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
?/. - c.160G>A r.(?) p.(Val54Met) Unknown - VUS g.55533686G>A g.54621126G>A RP1(NM_006269.1):c.160G>A (p.V54M) - RP1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.188T>C r.(?) p.(Phe63Ser) Parent #1 - likely pathogenic g.55533714T>C g.54621154T>C RP1, variant 1: c.788-2A>T/p.?, variant 2: c.188T>C/p.F63S - RP1_000415 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1273 PubMed: Weisschuh 2020 Filing key number: 1090, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 2 c.218_237dup r.(?) p.(Val80Argfs*8) Both (homozygous) ACMG pathogenic g.55533744_55533763dup g.54621184_54621203dup - - RP1_000335 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 416 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. - c.227T>C r.(?) p.(Leu76Pro) Paternal (confirmed) - likely pathogenic g.55533753T>C g.54621193T>C NM_006269, c.227T>C, p.Leu76Pro - RP1_000345 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP30, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.227T>C r.(?) p.(Leu76Pro) Unknown ACMG likely pathogenic g.55533753T>C g.54621193T>C RP1 c.227T>C, p.(Leu76Pro) - RP1_000345 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.031 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
-/. - c.228C>T r.(?) p.(Leu76=) Unknown - benign g.55533754C>T g.54621194C>T RP1(NM_006269.1):c.228C>T (p.L76=), RP1(NM_006269.2):c.228C>T (p.L76=) - RP1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Leu76=) Unknown - likely benign g.55533754C>T g.54621194C>T RP1(NM_006269.1):c.228C>T (p.L76=), RP1(NM_006269.2):c.228C>T (p.L76=) - RP1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.253dup r.(?) p.(Thr85Asnfs*50) Unknown - pathogenic g.55533779dup g.54621219dup c.253dup, p.(Arg87Serfs*48) - RP1_000383 error in annotation: c.253dup causes p.(Thr85Asnfs*50), p.(Arg87Serfs*48) would be caused by c.254dup, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14948 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
?/. - c.256C>A r.(?) p.(Pro86Thr) Unknown - VUS g.55533782C>A g.54621222C>A - - RP1_000154 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs757674289 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.256C>A r.(?) p.(Pro86Thr) Unknown - likely pathogenic g.55533782C>A g.54621222C>A RP1 c.256C>A, p.Pro86Thr - RP1_000154 heterozygous PubMed: Liu 2020 - - Germline/De novo (untested) ? 1/64 - - - DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing retinal disease G1506 PubMed: Liu 2020 - ? - China - - - - - 1 LOVD
+?/. 2 c.256C>A r.(?) p.(Pro86Thr) Unknown - likely pathogenic (dominant) g.55533782C>A - c.256C>A - RP1_000154 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 2 c.256C>A r.(?) p.(Pro86Thr) Unknown - likely pathogenic (recessive) g.55533782C>A - c.256C>A - RP1_000154 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.257dup r.(?) p.(Arg87SerfsTer48) Parent #2 - likely pathogenic g.55533783dup g.54621223dup 254_255insC - RP1_000324 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W177-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+?/. 2 c.257dup r.(?) p.(Arg87Serfs*48) Unknown - likely pathogenic (recessive) g.55533783dup - c.254dupC - RP1_000324 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.269del r.(?) p.(His90Profs*26) Both (homozygous) ACMG likely pathogenic g.55533795del g.54621235del RP1 c.269del, p.(His90Profs*26), c.269del, p.(His90Profs*26) - RP1_000364 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 241 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-/. - c.279G>T r.(?) p.(Thr93=) Unknown - benign g.55533805G>T g.54621245G>T RP1(NM_006269.1):c.279G>T (p.T93=), RP1(NM_006269.2):c.279G>T (p.T93=) - RP1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>T r.(?) p.(Thr93=) Unknown - likely benign g.55533805G>T g.54621245G>T RP1(NM_006269.1):c.279G>T (p.T93=), RP1(NM_006269.2):c.279G>T (p.T93=) - RP1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.289G>T r.(?) p.(Glu97*) Unknown ACMG pathogenic g.55533815G>T - - - RP1_000338 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_SH_0018 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.298G>T r.(?) p.(Asp100Tyr) Unknown - VUS g.55533824G>T - - - RP1_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.310T>C r.(?) p.(Tyr104His) Unknown - likely pathogenic g.55533836T>C g.54621276T>C c.310T/C and c.1047G/A(alleles in trans) - RP1_000384 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.310T>C r.(?) p.(Tyr104His) Unknown - likely pathogenic g.55533836T>C g.54621276T>C RP1 c.310T>C p.(Tyr104His) - RP1_000384 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 9 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. - c.312_315delCCTA r.(?) p.(Leu105Valfs*10) Parent #2 ACMG likely pathogenic g.55533838_55533841del g.54621278_54621281del RP1 c.312_315delCCTA, p.(Leu105Valfs*10) - RP1_000486 heterozygous PubMed: Huckfeldt 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE5 PubMed: Huckfeldt 2020 - F - - - - - - - 1 LOVD
+/. 2 c.368_369dup r.(?) p.(Pro124Alafs*20) Parent #1 - pathogenic g.55533894_55533895dup g.54621334_54621335dup - - RP1_000090 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.368_369dup r.(?) p.(Pro124AlafsTer20) Unknown - pathogenic g.55533894_55533895dup g.54621334_54621335dup RP1(NM_006269.1):c.368_369dupGC (p.P124Afs*20), RP1(NM_006269.2):c.368_369dupGC (p.P124Afs*20) - RP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368_369dup r.(?) p.(Pro124AlafsTer20) Unknown - pathogenic g.55533894_55533895dup g.54621334_54621335dup RP1(NM_006269.1):c.368_369dupGC (p.P124Afs*20), RP1(NM_006269.2):c.368_369dupGC (p.P124Afs*20) - RP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368_369dup r.(?) p.(Pro124Alafs*20) Unknown - pathogenic g.55533894_55533895dup g.54621334_54621335dup - - RP1_000090 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1884 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.368_369dup r.(?) p.(Pro124Alafs*20) Unknown - pathogenic g.55533894_55533895dup g.54621334_54621335dup - - RP1_000090 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1884 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.368_369dup r.(?) p.(Pro124AlafsTer20) Both (homozygous) - pathogenic g.55533894_55533895dup g.54621334_54621335dup - - RP1_000090 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 82 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
?/. 2 c.368_369dup r.(?) p.(Pro124AlafsTer20) Unknown - VUS g.55533894_55533895dup g.54621334_54621335dup c.368_369dup, p.Pro124Alafs*20 - RP1_000090 unsolved PubMed: Del Pozo-Valero - - Germline ? - - - - DNA SEQ-NG blood this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing retinal disease RP-1740 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 4 c.368_369dup r.(?) p.(Pro124Alafs*20) Parent #1 - likely pathogenic (recessive) g.55533894_55533895dup g.54621334_54621335dup RP1 c.368_369dup, p.P124Afs*20 - RP1_000090 heterozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease 21933/1 PubMed: Chassine 2015 - ? - Netherlands - - - - - 1 LOVD
+?/. 4 c.368_369dup r.(?) p.(Pro124Alafs*20) Parent #2 - likely pathogenic (recessive) g.55533894_55533895dup g.54621334_54621335dup RP1 c.366insGC, p.V51Dfs*27 - RP1_000090 error in annotation: c.366insGC is actually c.368_369dup; p.P124Afs*20 and not p.V51Dfs*27 is caused by this mutation; heterozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-1537/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. - c.368_369dup r.(?) p.(Pro124Alafs*20) Maternal (confirmed) - likely pathogenic (recessive) g.55533894_55533895dup g.54621334_54621335dup RP1 c.368_369dup, p.Pro124Alafs*20 - RP1_000090 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease H-II:2 PubMed: Verbakel 2019 family H, proband M - - white - - - - 1 LOVD
+?/. - c.368_369dup r.(?) p.(Pro124Alafs*20) Maternal (confirmed) - likely pathogenic (recessive) g.55533894_55533895dup g.54621334_54621335dup RP1 c.368_369dup, p.Pro124Alafs*20 - RP1_000090 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease H-II:3 PubMed: Verbakel 2019 family H, proband's sister F - - white - - - - 1 LOVD
+?/. - c.368_369dup r.(?) p.(Pro124Alafs*20) Both (homozygous) - likely pathogenic (recessive) g.55533894_55533895dup g.54621334_54621335dup RP1 c.368_369dup, p.Pro124Alafs*20 - RP1_000090 homozygous PubMed: Verbakel 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease M-II:2 PubMed: Verbakel 2019 family M, proband F - - white - - - - 1 LOVD
?/. - c.368_382del r.(?) p.(Arg123_Trp127del) Unknown - VUS g.55533894_55533908del - RP1(NM_006269.1):c.368_382delGCCCGCGGCCCTGGC (p.R123_W127del) - RP1_000440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.377C>T r.(?) p.(Pro126Leu) Unknown - VUS g.55533903C>T - c.377C>T - RP1_000352 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - - - - - - - - 1 LOVD
+?/. - c.380G>A r.(?) p.(Trp127Ter) Both (homozygous) - likely pathogenic g.55533906G>A g.54621346G>A - - RP1_000325 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W119-1 PubMed: Huang 2015 - M yes China - - - - - 1 LOVD
?/. - c.381G>T r.(?) p.(Trp127Cys) Unknown - VUS g.55533907G>T g.54621347G>T - - RP1_000155 - 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.392G>A r.(?) p.(Arg131Gln) Unknown - VUS g.55533918G>A g.54621358G>A - - RP1_000156 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs752150870 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
?/. - c.392G>A r.(?) p.(Arg131Gln) Paternal (inferred) ACMG VUS g.55533918G>A g.54621358G>A RP1 c.392G>A, (p.Arg131Gln) - RP1_000156 compound heterozygous PubMed: Mizobuchi 2021 - rs752150870 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 17_JU0514/1 PubMed: Mizobuchi 2021 family 17, individual JU0514/1 F - Japan Japanese - - - - 1 LOVD
+?/. - c.405_406dup r.(?) p.(His136ArgfsTer8) Both (homozygous) - likely pathogenic g.55533931_55533932dup g.54621371_54621372dup 400_401insGC - RP1_000302 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1988 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
?/. - c.406C>T r.(?) p.(His136Tyr) Unknown - VUS g.55533932C>T g.54621372C>T - - RP1_000157 - 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.407A>C r.(?) p.(His136Pro) Unknown - VUS g.55533933A>C g.54621373A>C RP1(NM_006269.1):c.407A>C (p.H136P) - RP1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.424G>A r.(?) p.(Val142Ile) Unknown - VUS g.55533950G>A g.54621390G>A - - RP1_000158 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs367600337 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.424G>T r.(?) p.(Val142Leu) Unknown - likely benign g.55533950G>T g.54621390G>T RP1(NM_006269.2):c.424G>T (p.V142L) - RP1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.426dup r.(?) p.(Ala143SerfsTer86) Parent #1 - pathogenic (recessive) g.55533952dup g.54621392dup c.426dupA - RP1_000309 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP382 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+/. 2 c.426dup r.(?) p.(Ala143Serfs*86) Both (homozygous) ACMG pathogenic g.55533952dup g.54621392dup NM_006269.1:c.426dup, NP_006260.1:p.(Ala143SerfsTer86), NC_000008.10:g.55533952dup - RP1_000309 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016081701 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 2 c.426dup r.(?) p.(Ala143Serfs*86) Both (homozygous) - likely pathogenic (recessive) g.55533952dup - c.426-427insA - RP1_000309 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F yes - - - - - - 1 LOVD
?/. - c.443G>A r.(?) p.(Gly148Asp) Unknown - VUS g.55533969G>A g.54621409G>A - - RP1_000159 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs866545331 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.452del r.(?) p.(Arg151Profs*6) Unknown - pathogenic g.55533978del g.54621418del - - RP1_000160 - 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
+?/. 2 c.469del r.(?) p.(Val157Trpfs*16) Both (homozygous) - likely pathogenic (recessive) g.55533995del g.54621435del RP1 c.469delG, p.Val157TrpfsX16 - RP1_000456 homozygous Lafont 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease II:1 Lafont 2011 family RP494, proband M - France - - - - - 1 LOVD
+?/. 4 c.469del r.(?) p.(Val157Trpfs*16) Both (homozygous) - likely pathogenic (recessive) g.55533995del g.54621435del RP1 c.469delG, p.V157Wfs*15 - RP1_000456 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-494/1 PubMed: Chassine 2015 - ? - Morocco - - - - - 1 LOVD
+/. - c.469del r.(?) p.(Val157Trpfs*16) Parent #1 - pathogenic g.55533995del g.54621435del RP1 c.469delG , p.Val157Trpfs*16 - RP1_000456 heterozygous PubMed: Silva 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease 1 PubMed: Silva 2020 - F - - - - - - - 1 LOVD
?/. 2 c.473T>G r.(?) p.(Val158Gly) Unknown - VUS g.55533999T>G g.54621439T>G T473G - RP1_000328 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#003 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.473T>G r.(?) p.(Val158Gly) Paternal (confirmed) ACMG likely pathogenic g.55533999T>G g.54621439T>G RP1 c.473T>G, (p.Val158Gly) - RP1_000328 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 6_JU0504/1 PubMed: Mizobuchi 2021 family 6, individual JU0504/1, proband F - Japan Japanese - - - - 1 LOVD
?/. - c.487G>A r.(?) p.(Asp163Asn) Unknown - VUS g.55534013G>A g.54621453G>A RP1(NM_006269.1):c.487G>A (p.D163N), RP1(NM_006269.2):c.487G>A (p.D163N) - RP1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>A r.(?) p.(Asp163Asn) Unknown - VUS g.55534013G>A g.54621453G>A - - RP1_000110 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP255 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.487G>A r.(?) p.(Asp163Asn) Unknown - likely benign g.55534013G>A - RP1(NM_006269.1):c.487G>A (p.D163N), RP1(NM_006269.2):c.487G>A (p.D163N) - RP1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491C>G r.(?) p.(Pro164Arg) Both (homozygous) - VUS g.55534017C>G g.54621457C>G RP1 c.491C>G, p.Pro164Arg - RP1_000431 homozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP16 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+?/. - c.491C>G r.(?) p.(Pro164Arg) Parent #1 ACMG likely pathogenic g.55534017C>G g.54621457C>G RP1 c.491C>G, p.(Pro164Arg) - RP1_000431 heterozygous PubMed: Huckfeldt 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE13 PubMed: Huckfeldt 2020 - F - - - - - - - 1 LOVD
-?/. 2 c.502C>G r.(?) p.(Arg168Gly) Parent #1 - likely benign g.55534028C>G g.54621468C>G - - RP1_000080 - PubMed: Berson 2001 - - Germline no - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
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