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.

228 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

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Disease     

ID_report     

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Owner     
+/. 26i c.2991+1655A>G r.spl? p.(Cys998*) Parent #2 - pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 copied from CEP290 database PubMed: Littink Karin 2010 - - Germline - - - - - DNA SEQ - - LCA - - - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 26i c.2991+1655A>G r.spl? p.(Cys998*) Parent #1 - pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 copied from CEP290 database PubMed: Littink Karin 2010 - - Germline - - - - - DNA SEQ - - LCA - - - - - - - - - - - 83 Johan den Dunnen
+/. - c.2991+1655A>G r.(=) p.(=) Unknown - pathogenic g.88494960T>C g.88101183T>C CEP290(NM_025114.4):c.2991+1655A>G - CEP290_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2991+1655A>G r.(=) p.(=) Unknown - pathogenic g.88494960T>C g.88101183T>C CEP290(NM_025114.4):c.2991+1655A>G - CEP290_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 26i c.2991+1655A>G r.spl p.(=) Parent #2 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - M - - - - - - - 1 Marta de Castro-Miró
+/. - c.2991+1655A>G r.spl p.(=) Parent #2 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - F - - - - - - - 1 Marta de Castro-Miró
+/. - c.2991+1655A>G r.spl p.(=) Parent #1 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - M - - - - - - - 1 Marta de Castro-Miró
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Holtan 2020 - - Germline - 3/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 3 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 3 Global Variome, with Curator vacancy
+/. - c.2991+1655A>G r.(=) p.(=) Unknown - pathogenic g.88494960T>C - CEP290(NM_025114.4):c.2991+1655A>G - CEP290_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Bryant 2018 - rs281865192 Germline - - - - - DNA SEQ-NG - WES retinal disease JB165 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Parent #1 - pathogenic (recessive) g.88494960T>C - - - CEP290_000002 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam9PatFBP_29 PubMed: Porto 2017 3-generation family, 3 affected (F, 3M) F;M - Brazil - - - - - 4 LOVD
+/. - c.2991+1655A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam24PatFBP_62 PubMed: Porto 2017 5-generation family, 7 affected (4F, 3M) F;M - Brazil - - - - - 7 LOVD
+/. - c.2991+1655A>G r.spl p.? Parent #1 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam35PatFBP_173 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1015 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1212 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1950 PubMed: Thompson 2017 family, 2 affected - - Australia - - - - - 2 LOVD
+?/. - c.2991+1655A>G r.spl p.? Paternal (confirmed) - likely pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam623 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #2 - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease 285 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 8 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 390 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 391 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 392 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 393 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 394 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Both (homozygous) - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 403 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C IVS26+1655A>G - CEP290_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 430 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5502 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8389 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Parent #2 - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat93 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.2991+1655A>G r.spl p.? Parent #1 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case13730 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.? Parent #1 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case30421 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Unknown - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13003353 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Unknown - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12013710 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Unknown - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12006834 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Unknown - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12009433 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.? Unknown - likely pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007217 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998Ter) Parent #1 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Vamos 2016 - - Germline - - - - - DNA PE, SEQ - - retinal disease CEP290-Pat1 PubMed: Vamos 2016 - - - Hungary - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.? Parent #2 - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-010-032 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl p.(Cys998*) Maternal (confirmed) ACMG pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - Tracewska 2021, MolVis in press - - Germline yes 0,0006 (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
+/. 26i c.2991+1655A>G r.spl p.(Cys998*) Maternal (confirmed) ACMG pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - Tracewska 2021, MolVis in press - - Germline yes 0,0006 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 308 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.? Both (homozygous) - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Both (homozygous) - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. 26i c.2991+1655A>G r.spl? p.? Unknown - pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
?/. 26i c.2991+1655A>G r.spl? p.(Cys998*) Unknown ACMG VUS g.88494960T>C g.88101183T>C c.2991+1655A>G, Splice - CEP290_000002 Heterozygous PubMed: Birtel 2018 - rs281865192 Germline - - - - - DNA SEQ-NG blood - retinal disease 36 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.88494960T>C g.88101183T>C allele 1: c.2991+1655A>G/p.[C998*,=], allele 2: c.2991+1655A>G/p.[C998*, = ] - CEP290_000002 homozygous PubMed: Weisschuh 2018 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 3 PubMed: Weisschuh 2018 - F - Germany - - - - - 1 LOVD
+/. - c.2991+1655A>G r.(2991_2992ins[2991+1523_2991+1654]) p.(Cys998*) Unknown - pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G, p.(Cys998*) - CEP290_000002 Cryptic exon, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-084 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.1A>G/p.M1? - CEP290_000002 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
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.3811C>T/p.R1271* - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 180 PubMed: Weisschuh 2020 Filing key number: 69, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.6964A>T/p.K2322* - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 236 PubMed: Weisschuh 2020 Filing key number: 82, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.6964A>T/p.K2322* - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 237 PubMed: Weisschuh 2020 Filing key number: 82, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5587-1G>C/p.? - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 257 PubMed: Weisschuh 2020 Filing key number: 87, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.2991+1655A>G/p.? - CEP290_000002 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 297 PubMed: Weisschuh 2020 Filing key number: 99, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5866G>T/p.E1956* - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 318 PubMed: Weisschuh 2020 Filing key number: 105, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.7341dup/p.L2448Tfs*8 - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 325 PubMed: Weisschuh 2020 Filing key number: 106, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5668G>T/p.G1890* - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1113 PubMed: Weisschuh 2020 Filing key number: 760, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2991+1655A>G r.spl p.(?) Parent #1 - likely pathogenic g.88494960T>C g.88101183T>C CEP290, variant 1: c.1645C>T/p.R549*, variant 2: c.2991+1655A>G/p.? - CEP290_000002 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 474 PubMed: Weisschuh 2020 Filing key number: 154, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Parent #1 - likely pathogenic g.88494960T>C - c.2991+1655A>G - CEP290_000002 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
?/. - c.2991+1655A>G r.spl p.? Unknown - VUS g.88494960T>C g.88101183T>C CEP290 nucleotide 1, protein 1:c.384_387delTAGA, p.Asp128Glufs*34 nucleotide 2, protein 2:c.2991+1655A>G, p.? - CEP290_000002 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 53 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 17 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 20 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 homozygous 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 21 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 22 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 23 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 5 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+16SSA>G; p.Cys998Ter - CEP290_000002 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 6 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 9 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 11 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 homozygous 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 19 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 24 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 12 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 13 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 18 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.2991+1655A>G r.spl p.(Cys998*) Unknown ACMG pathogenic g.88494960T>C g.88101183T>C CEP290 c.2991+1655A>G; p.Cys998Ter - CEP290_000002 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 25 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
+?/. 26i c.2991+1655A>G r.spl? p.? Unknown - likely pathogenic g.88494960T>C - c.2991+1655A>G (p.Cys998*) - CEP290_000002 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.2991_2992ins[2991+1523_2991+1654] p.Cys998Ter Both (homozygous) - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA, RNA arraySNP, microsat, RT-PCR, SEQ blood - retinal disease FamPatIV6 PubMed: Den Hollander 2006 4-generation family, family, 4 affected (3 brothers/sister) M yes Canada French-Canadian - - - - 4 LOVD
+/. 26i c.2991+1655A>G r.2991_2992ins[2991+1523_2991+1654] p.Cys998Ter Both (homozygous) - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA, RNA arraySNP, microsat, RT-PCR, SEQ blood - retinal disease FamPatIV7 PubMed: Den Hollander 2006 brother M yes Canada French-Canadian - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.2991_2992ins[2991+1523_2991+1654] p.Cys998Ter Both (homozygous) - pathogenic (recessive) g.88494960T>C g.88101183T>C - - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA, RNA arraySNP, microsat, RT-PCR, SEQ blood - retinal disease FamPatIV8 PubMed: Den Hollander 2006 brother M yes Canada French Canadian - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.2991_2992ins[2991+1523_2991+1654] p.Cys998Ter Both (homozygous) - pathogenic (recessive) g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA, RNA arraySNP, microsat, RT-PCR, SEQ blood - retinal disease FamPatIV9 PubMed: Den Hollander 2006 sister F yes Canada French-Canadian - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Both (homozygous) - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 12832 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Unknown - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 13168 PubMed: Den Hollander 2006 - - - Germany - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Unknown - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 14964 PubMed: Den Hollander 2006 - - - Germany - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Unknown - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 15103 PubMed: Den Hollander 2006 - - - Germany - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Paternal (inferred) - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 15212 PubMed: Den Hollander 2006 - - - Germany - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Both (homozygous) - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 16317 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Paternal (confirmed) - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 17971 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Unknown - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 20152 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Both (homozygous) - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 21365 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
+/. 26i c.2991+1655A>G r.spl? p.(Cys998Ter) Maternal (confirmed) - pathogenic g.88494960T>C g.88101183T>C c.2991+1655A>G (p.Cys998X) - CEP290_000002 - PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 21393 PubMed: Den Hollander 2006 - - - Netherlands - - - - - 1 LOVD
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