Full data view for gene CEP290

This database is one of the "Eye disease" gene variant databases.b>NOTE: most of the data displayed derive from the CEP290 gene variant database and link directly to their original source.
Information The variants shown are described using the NM_025114.3 transcript reference sequence.

1832 entries on 19 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 41 c.?G>T r.(?) p.(Glu1903*) Unknown - pathogenic g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*?, copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. 41 c.?G>T r.(?) p.(Glu1903*) Unknown - pathogenic g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*? OMIM:var0013 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.-33G>T r.(?) p.(=) Unknown - benign g.88535682C>A g.88141905C>A - - CEP290_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27-188dup r.(=) p.(=) Unknown - benign g.88535299dup g.88141522dup CEP290(NM_025114.4):c.-27-188dupT - CEP290_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27-56A>C r.(=) p.(=) Unknown - benign g.88535167T>G g.88141390T>G CEP290(NM_025114.4):c.-27-56A>C - CEP290_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-20G>A r.(?) p.(=) Unknown - benign g.88535104C>T g.88141327C>T CEP290(NM_025114.4):c.-20G>A - CEP290_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.-1G>A r.(?) p.(?) Paternal (confirmed) - VUS g.88535085C>T g.88141308C>T - - CEP290_000375 - - - - Germline - - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - 01y - - - 1 Jinu Han
?/. 2 c.-1G>A r.(?) p.(?) Unknown - VUS g.88535085C>T g.88141308C>T - - CEP290_000375 - - - - Unknown - - - - - DNA SEQ-NG blood WES LCA - - - F no Korea - - - - - 1 Jinu Han
?/. 2 c.-1G>A r.(?) p.(?) Unknown - VUS g.88535085C>T g.88141308C>T - - CEP290_000375 - - - - Unknown - - - - - DNA SEQ-ON blood Targeted gene panel LCA - - - M no Korea - - - - - 1 Jinu Han
?/. - c.-1G>A r.(?) p.? Paternal (confirmed) - VUS g.88535085C>T g.88141308C>T - - CEP290_000375 - PubMed: Han 2017, PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat7;Pat12;Pat12 PubMed: Han 2017, PubMed: Rim 2017 - F - Korea - - - - - 1 LOVD
?/. - c.-1G>A r.0? p.0? Paternal (confirmed) ACMG VUS g.88535085C>T g.88141308C>T c.-1G>A:p.? - CEP290_000375 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 8 PubMed: Surl 2020 - F - Korea - - - - - 1 LOVD
?/. - c.-1G>A r.spl p.(?) Maternal (confirmed) ACMG VUS g.88535085C>T g.88141308C>T c.-1G>A:p.? - CEP290_000375 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 38 PubMed: Surl 2020 - F - Korea - - - - - 1 LOVD
?/. - c.-1G>A r.spl p.(?) Paternal (confirmed) ACMG VUS g.88535085C>T g.88141308C>T c.-1G>A:p.? - CEP290_000375 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 39 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
?/. - c.-344_(7186_?){2} r.? p.? Parent #1 - VUS g.(?_88444154)_(88561356_?)dup - Chr12:88444154-88561356dup - CEP290_000432 - PubMed: Huang 2017 - - Germline/De novo (untested) - - - - - DNA arraySNP, SEQ-NG - WES retinal disease Fam2PatII1 PubMed: Huang 2017 - - - China - - - - - 1 Johan den Dunnen
?/. - c.-344_(7186_?){2} r.? p.? Parent #1 - VUS g.(?_88444154)_(88561356_?)dup - chr12:88444154-88561356dup - CEP290_000432 - PubMed: Huang 2017 - - Germline - - - - - DNA arraySNP, SEQ-NG - WES retinal disease Fam3PatII1 PubMed: Huang 2017 - - - China - - - - - 1 Johan den Dunnen
+?/. 20 c.? r.(?) p.? Unknown - likely pathogenic g.88508234C>T - c.[3265C>T];[4090G>T] - CEP290_000518 - PubMed: Chen-2013 - - Germline - 0/384 controls - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - - - - 1 LOVD
+?/. 23 c.? r.(?) p.? Unknown - likely pathogenic g.88502850G>A - c.[2954delT];[7028_7034+3dup] - CEP290_000518 - PubMed: Chen-2013 - - Germline - 0/384 controls - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - F - China Chinese - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - E1903X - ALX1_000001 - PubMed: Leitch-2008 - - Germline - 0/96 ethnically matched controls, 0/184 European-descended controls - - - DNA SEQ blood - retinal disease - PubMed: Leitch-2008 - F yes - Saudi Arabian - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - CEP290/BBS14:p.[K1870Nfs*4];= - ALX1_000001 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Ala1832Profs*19) Both (homozygous) - likely pathogenic g.? - MKS4:p.Ala1832Profs*19 - ALX1_000001 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Asn1049Lysfs*16) Both (homozygous) - likely pathogenic g.? - MKS4:p.Asn1049Lysfs*16 - ALX1_000001 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Asn1049Lysfs*16) Both (homozygous) - likely pathogenic g.? - MKS4:p.Asn1049Lysfs*16 - ALX1_000001 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - - - - 1 LOVD
+/. - c.? r.0? p.0? Maternal (confirmed) - pathogenic g.86988872_88826736del g.86595096_88432960del CEP290 (46,XX.arr12q21.33(86,988,872-88,826,736) 1 hg19) - CEP290_000518 12q21 deletion PubMed: Molin 2013 - - Germline yes - - - - DNA SEQ, FISH, arrayCGH blood - retinal disease 1 PubMed: Molin 2013 - F - - - - - - - 1 LOVD
+/. 2 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.88535084T>C g.88141307T>C - - CEP290_000010 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.88535084T>C g.88141307T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.1A>G/p.M1? - CEP290_000010 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 147 PubMed: Weisschuh 2020 Filing key number: 62, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 2 c.1A>G r.0? p.(Met1?) Unknown - likely pathogenic g.88535084T>C g.88141307T>C A1G, Start codon defect - CEP290_000010 heterozygous PubMed: Helou 2008 - - Unknown ? - - - - DNA SEQ blood - retinal disease F57 (II-1) PubMed: Helou 2008 - - no Germany - - - - - 1 LOVD
+/. 2 c.2T>A r.(?) p.0? Parent #1 - pathogenic g.88535083A>T g.88141306A>T - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - - - DNA DHPLC - - LCA - - - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.2T>A r.(?) p.0? Parent #1 - pathogenic g.88535083A>T g.88141306A>T - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - - - DNA DHPLC - - LCA - - - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2T>A r.(?) p.(Met1?) Parent #1 - likely pathogenic g.88535083A>T g.88141306A>T CEP290, variant 1: c.2T>A/p.M1?, variant 2: c.3461dup/p.L1155Tfs*6 - CEP290_000003 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 881 PubMed: Weisschuh 2020 Filing key number: 368, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 1 c.2T>A r.(?) p.Met1Lys Parent #2 - likely pathogenic g.88535083A>T g.88141306A>T CEP290 allele 1: c.1593C>A, p.Tyr531X; allele 2: c.2T>A, p.Met1Lys - CEP290_000003 error in annotation, initiation codon mutation; protein variant should be annotated p.(Met1?) and not p.(Met1Lys) PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 416 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
?/. - c.14T>C r.(?) p.(Ile5Thr) Unknown ACMG VUS g.88535071A>G g.88141294A>G CEP290 c.14T>C; p.IIe5Thr - CEP290_000570 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 107 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. 2 c.21G>T r.(?) p.(Trp7Cys) Parent #1 - pathogenic g.88535064C>A g.88141287C>A - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003 - rs62635288 Germline - - - - - DNA SEQ - - JBTS1 - - - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.21G>T r.(?) p.(Trp7Cys) Parent #2 - pathogenic g.88535064C>A g.88141287C>A - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003 - rs62635288 Germline - - - - - DNA SEQ - - JBTS1 - - - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.21G>T r.(?) p.(Trp7Cys) Parent #1 - pathogenic g.88535064C>A g.88141287C>A - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006 - rs62635288 Germline - - - - - DNA SEQ - - JBTS1 - - - - - - - - - - - 2 Johan den Dunnen
+/. 2 c.21G>T r.(?) p.(Trp7Cys) Unknown - pathogenic g.88535064C>A g.88141287C>A - - CEP290_000011 - OMIM:var0003 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.21G>T r.(?) p.(Trp7Cys) Parent #1 - pathogenic g.88535064C>A g.88141287C>A - - CEP290_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62635288 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.21G>T r.(?) p.(Trp7Cys) Both (homozygous) - pathogenic (recessive) g.88535064C>A - 12:88535064C>A ENST00000552810.1:c.21G>T (Trp7Cys) - CEP290_000005 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001301 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.21G>T r.(?) p.(Trp7Cys) Parent #1 - likely pathogenic g.88535064C>A g.88141287C>A c.G21T p.W7C - CEP290_000005 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam8 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+/. - c.21G>T r.(?) p.(Trp7Cys) Parent #2 - pathogenic g.88535064C>A g.88141287C>A NM_025114.3:c.21G>T - CEP290_000005 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW254-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.21G>T r.(?) p.(Trp7Cys) Both (homozygous) - likely pathogenic g.88535064C>A g.88141287C>A CEP290 c.21G>T, p.Trp7Cys - CEP290_000005 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001301 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.43C>G r.(?) p.(Pro15Ala) Parent #1 - likely pathogenic g.88535042G>C g.88141265G>C CEP290, variant 1: c.180+1G>A/p.?, variant 2: c.43C>G/p.P15A - CEP290_000559 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1253 PubMed: Weisschuh 2020 Filing key number: 1037, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-?/. - c.99C>T r.(?) p.(Ser33=) Unknown - likely benign g.88534986G>A g.88141209G>A CEP290(NM_025114.3):c.99C>T (p.S33=) - CEP290_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.102+1G>T r.spl p.(?) Parent #1 - likely pathogenic g.88534982C>A g.88141205C>A CEP290, variant 1 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*], variant 2 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*] - CEP290_000558 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 438 PubMed: Weisschuh 2020 Filing key number: 140, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.102+1G>T r.spl p.(?) Parent #1 - likely pathogenic g.88534982C>A g.88141205C>A CEP290, variant 1 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*], variant 2 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*] - CEP290_000558 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 439 PubMed: Weisschuh 2020 Filing key number: 140, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 2i c.103-18_103-13del r.? p.? Unknown - pathogenic g.88534825_88534830del g.88141048_88141053del 103-13_103-18del - CEP290_000127 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 2 Johan den Dunnen
+/+ 2i c.103-18_103-13del r.(=) p.(=) Unknown - likely pathogenic g.88534823_88534828del - c.103-13 to -18 del - CEP290_000127 - PubMed: Tory 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tory 2007 - - - France French - - - - 1 Julia Lopez
+/. - c.103-1G>T r.spl? p.? Parent #1 - pathogenic g.88534811C>A g.88141034C>A NM_025114.3:c.103-1G>T - CEP290_000469 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW286-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.103-1G>T r.spl p.(?) Parent #1 - likely pathogenic g.88534811C>A g.88141034C>A CEP290 c.103-1G>T, Splice site - CEP290_000469 compound heterozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 9 PubMed: Devi 2020 Family 9 ? - India - - - - - 1 LOVD
+/. - c.133_136del r.(?) p.(Gln45LysfsTer3) Unknown - pathogenic g.88534780_88534783del g.88141003_88141006del CEP290(NM_025114.4):c.133_136delCAAG (p.Q45Kfs*3) - CEP290_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.136G>T r.(?) p.(Glu46*) Unknown - pathogenic g.88534777C>A - c.136G/T - CEP290_000512 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - Germany - - - - - 1 LOVD
+/. 3 c.148C>T r.(?) p.(His50Tyr) Both (homozygous) - pathogenic g.88534765G>A g.88140988G>A - - CEP290_000154 - PubMed: Li 2017 - - Germline yes - - - needs Curator approval DNA SEQ WBC - RD 61166 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
+?/. 3 c.148C>T r.(?) p.(His50Tyr) Unknown ACMG VUS g.88534765G>A g.88140988G>A - - CEP290_000154 - PubMed: de Castro-Miró 2016 - - Germline ? - - - - DNA SEQ-NG-I Whole blood - LCA 65ORG PubMed: de Castro-Miró 2016 - F ? Venezuela - - - - - 1 Marta de Castro-Miró
?/. - c.148C>T r.(?) p.(His50Tyr) Unknown - VUS g.88534765G>A g.88140988G>A - - CEP290_000154 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12002965 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.148C>T r.(?) p.(His50Tyr) Parent #1 - pathogenic g.88534765G>A g.88140988G>A - - CEP290_000154 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 22588 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.148C>T r.(?) p.(His50Tyr) Both (homozygous) - likely pathogenic g.88534765G>A g.88140988G>A CEP290 c.148C>T, p.(His50Tyr) - CEP290_000154 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 30 PubMed: Sheck 2018 family 16829, individual 30 - - - - - - - - 1 LOVD
+?/. - c.148C>T r.(?) p.(His50Tyr) Parent #2 - likely pathogenic g.88534765G>A g.88140988G>A c.148C>T, p.(His50Tyr) - CEP290_000154 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 5a PubMed: Sheck 2018 family 1874, individual 5a - - - - - - - - 1 LOVD
+?/. - c.148C>T r.(?) p.(His50Tyr) Parent #2 - likely pathogenic g.88534765G>A g.88140988G>A c.148C>T, p.(His50Tyr) - CEP290_000154 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 5b PubMed: Sheck 2018 family 1874, individual 5b - - - - - - - - 1 LOVD
+?/. - c.148C>T r.(?) p.(His50Tyr) Parent #2 - likely pathogenic g.88534765G>A g.88140988G>A c.148C>T, p.(His50Tyr) - CEP290_000154 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 5c PubMed: Sheck 2018 family 1874, individual 5c - - - - - - - - 1 LOVD
+?/. - c.148C>T r.(?) p.(His50Tyr) Parent #2 - likely pathogenic g.88534765G>A g.88140988G>A c.148C>T, p.(His50Tyr) - CEP290_000154 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 5d PubMed: Sheck 2018 family 1874, individual 5d - - - - - - - - 1 LOVD
+?/. - c.148C>T r.(?) p.(His50Tyr) Parent #2 - likely pathogenic g.88534765G>A g.88140988G>A c.148C>T, p.(His50Tyr) - CEP290_000154 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 5e PubMed: Sheck 2018 family 1874, individual 5e - - - - - - - - 1 LOVD
?/. - c.158G>C r.(?) p.(Arg53Thr) Unknown - VUS g.88534755C>G g.88140978C>G CEP290 c.158G>C, p.Arg53Thr - CEP290_000548 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-035 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.162T>G r.(?) p.(Ile54Met) Unknown - VUS g.88534751A>C g.88140974A>C - - CEP290_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163_166del r.(?) p.(Thr55Serfs*3) Parent #1 - pathogenic g.88534747_88534750del g.88140970_88140973del NM_025114.3:c.164_167delCTCA - CEP290_000012 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW032-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 3 c.164_167del r.(?) p.(Thr55Serfs*3) Unknown - pathogenic g.88534747_88534750del g.88140970_88140973del - - CEP290_000012 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.164_167del r.(?) p.(Thr55Serfs*3) Unknown ACMG pathogenic g.88534747_88534750del g.88140970_88140973del CEP290 c.164_167deICTCA; p.ThrS5SerfsTer3 - CEP290_000012 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 7 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.164_167del r.(?) p.(Thr55Serfs*3) Unknown ACMG pathogenic g.88534747_88534750del g.88140970_88140973del CEP290 c.164 167deICTCA; p.Thr55SerfsTer3 - CEP290_000012 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 7 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. 3 c.164_167del r.(?) p.(Thr55Serfs*3) Unknown - likely pathogenic g.88534747_88534750del g.88140970_88140973del 164_167del CTCA, T55fsX57 - CEP290_000012 single heterozygous variant in a recessive disease PubMed: Helou 2008 - - Unknown ? - - - - DNA SEQ blood - retinal disease A1332 (II-1) PubMed: Helou 2008 - - yes Syria - - - - - 1 LOVD
+/. 3 c.164_167delCTCA r.(?) p.(Thr55Serfs*3) Parent #2 - pathogenic g.88534747_88534750del g.88140970_88140973del c.164_167delCTCA - CEP290_000012 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD072 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. - c.180+1G>A r.spl p.(?) Unknown ACMG likely pathogenic g.88534732C>T g.88140955C>T CEP290 c.180+1G>A, p.(?), c.6871C>T, p.(Gln2291*) - CEP290_000526 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 77 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.180+1G>A r.spl p.(?) Parent #1 - likely pathogenic g.88534732C>T g.88140955C>T CEP290, variant 1: c.180+1G>A/p.?, variant 2: c.43C>G/p.P15A - CEP290_000526 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1253 PubMed: Weisschuh 2020 Filing key number: 1037, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 3i c.180+1G>T r.spl p.? Unknown - pathogenic g.88534732C>A g.88140955C>A - - CEP290_000132 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.180+1G>T r.(?) p.? Paternal (confirmed) - pathogenic g.88534732C>A g.88140955C>A c.180+1G>T Splice defect - CEP290_000132 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 21918 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
+?/. 3i c.180+2T>A r.spl p.? Unknown - likely pathogenic (recessive) g.88534731A>T g.88140954A>T - - CEP290_000131 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.180+2T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88534731A>T g.88140954A>T - - CEP290_000131 - PubMed: Baala 2007, OMIM:var0009 - - Germline yes - - - - DNA SEQ - - MKS Fam4Pat304 PubMed: Baala 2007 family, 2 affected - - France;Tunisia - - - - - 2 Johan den Dunnen
+/. 3i c.180+2T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88534731A>T g.88140954A>T - - CEP290_000131 - PubMed: Baala 2007 - - Germline yes - - - - DNA SEQ - - MKS Fam4Pat303 PubMed: Baala 2007 relative - - France;Tunisia - - - - - 1 Johan den Dunnen
-?/. - c.181-10dup r.(=) p.(=) Unknown - likely benign g.88533357dup g.88139580dup CEP290(NM_025114.4):c.181-10dupT - CEP290_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.185A>G r.(?) p.(Lys62Arg) Paternal (confirmed) ACMG likely pathogenic g.88533337T>C g.88139560T>C - - CEP290_000496 - 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 292 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. - c.197T>G r.(?) p.(Val66Gly) Parent #1 ACMG likely pathogenic g.88533325A>C g.88139548A>C CEP290 NM_025114: g.2669T>G, c.197T>G, p.V66G - CEP290_000541 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 67060 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.214G>T r.214g>u p.Glu72* Parent #2 - pathogenic (recessive) g.88533308C>A g.88139531C>A - - CEP290_000378 - PubMed: Tsurusaki 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam5 PubMed: Tsurusaki 2013 2-generation family, 1 affected M - Japan - - - - - 1 Johan den Dunnen
+/. - c.214G>T r.(?) p.(Glu72Ter) Parent #1 - pathogenic g.88533308C>A g.88139531C>A - - CEP290_000378 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam5 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
?/. 4 c.223A>G r.(?) p.(Lys75Glu) Maternal (confirmed) ACMG VUS g.88533299T>C g.88139522T>C - - CEP290_000495 - 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 278 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. 4 c.223A>G r.(?) p.(Lys75Glu) Unknown - likely pathogenic (recessive) g.88533299T>C - c.223A>G - CEP290_000495 - PubMed: Colombo-2020 - rs779010679 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - VUS g.88533296C>T g.88139519C>T CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T) - CEP290_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - VUS g.88533296C>T g.88139519C>T CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T) - CEP290_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - likely benign g.88533296C>T g.88139519C>T CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T) - CEP290_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - VUS g.88533296C>T g.88139519C>T - - CEP290_000276 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG - 22-gene panel retinal disease 1-43 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 LOVD
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - VUS g.88533296C>T g.88139519C>T - - CEP290_000276 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG - 22-gene panel retinal disease 1-60 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 LOVD
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown ACMG VUS g.88533296C>T g.88139519C>T CEP290:NM_025114 c.G226A, p.A76T - CEP290_000276 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-320 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.226G>A r.(?) p.(Ala76Thr) Unknown - likely pathogenic g.88533296C>T - c.226G>A (p.(Ala76Thr)) - CEP290_000276 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - VUS g.88533296C>T - CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T) - CEP290_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Glu78Lys) Unknown - VUS g.88533290C>T g.88139513C>T CEP290(NM_025114.4):c.232G>A (p.E78K) - CEP290_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.250+2T>C r.[=,250_251ins250+1_250+28, r.124_245del] p.[=,Glu84Glyfs*10,Ser42Phefs*2] Maternal (confirmed) ACMG pathogenic g.88533270A>G g.88139493A>G - - CEP290_000494 - PubMed: Tracewska 2020 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA, RNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 223 PubMed: Tracewska 2020 proband F no Poland Slavic - - yes - 1 LOVD
-?/. - c.250+10T>C r.(=) p.(=) Unknown - likely benign g.88533262A>G - CEP290(NM_025114.4):c.250+10T>C - CEP290_000623 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.251-11T>A r.(=) p.(=) Unknown - benign g.88532979A>T g.88139202A>T CEP290(NM_025114.4):c.251-11T>A - CEP290_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.251-11T>A r.(=) p.(=) Unknown - benign g.88532979A>T g.88139202A>T CEP290(NM_025114.4):c.251-11T>A - CEP290_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.251-10A>T r.(=) p.(=) Unknown - benign g.88532978T>A g.88139201T>A CEP290(NM_025114.3):c.251-10A>T - CEP290_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251-2A>T r.(?) p.(?) Unknown - likely pathogenic g.88532970T>A - - - CEP290_000627 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.254A>C r.(?) p.(Asn85Thr) Unknown - pathogenic g.88532965T>G - c.254A/C - CEP290_000511 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - Poland - - - - - 1 LOVD
+?/. - c.256delC r.(?) p.(Gln86Asnfs*2) Unknown - likely pathogenic g.88532963del g.88139186del c.2991+1655A>G/c.256delC, p.C998*/p.Q86Nfs*2 - CEP290_000588 heterozygous PubMed: Feldhaus 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood 11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>, G, and 1 patient by targeted IRD panel analysis retinal disease CEP290_17 PubMed: Feldhaus 2020 - F - - - - - - - 1 LOVD
+/. 5 c.265dup r.(?) p.(Thr89Asnfs*2) Unknown - pathogenic g.88532958dup g.88139181dup - - CEP290_000013 copied from CEP290 database - - rs62642052 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
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