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Recognized gene
CEP290
Normalized c.HGVS
c.1054G>T, c.1150A>G, c.1175T>G, c.2029C>T, c.2090C>T and 45 more
Normalized p.HGVS
p.(Ala1260Thr), p.(Ala1432Thr), p.(Ala352Ser), p.(Ala697Val), p.(Arg1072Trp) and 43 more
Matching records
200
PM3-positive records
15
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| CEP290 |
NM_025114.4:c.5932C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1075 G>T; p.Glu359Ter
context: Compound heterozygous candidate
|
37766766
A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay.
Beyoglu eye journal, 2023
|
Main article | |
| CEP290 |
NM_025114.4:c.31A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2848dup; p.Gln950ProfsTer6; dup
context: Compound heterozygous candidate
|
35764379
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Journal of medical genetics, 2022
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.5284C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35764379
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Journal of medical genetics, 2022
|
Main article | |
| CEP290 |
NM_025114.4:c.6134C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7394_7395del; p.Glu2465ValfsTer2; fsTer2
context: Compound heterozygous candidate
|
35123515
Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.
Journal of orthopaedic surgery and research, 2022
|
Main article | |
| CEP290 |
NM_025114.4:c.5932C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35019165
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Journal of clinical laboratory analysis, 2022
|
Main article | |
| CEP290 |
NM_025114.4:c.2252G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1298A>G; p.(Asp433Gly)
context: Compound heterozygous candidate
|
34196655
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Investigative ophthalmology & visual science, 2021
|
Main article | |
| CEP290 |
NM_025114.4:c.2723G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5493del; p.(Ala1832Profs*19)
context: Compound heterozygous candidate
|
34196655
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Investigative ophthalmology & visual science, 2021
|
Main article | |
| CEP290 |
NM_025114.4:c.2423A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33921431
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Genes, 2021
|
Main article | |
| CEP290 |
NM_025114.4:c.2615C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.K140R
context: Compound heterozygous candidate
|
31488071
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.
BMC medical genetics, 2019
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.3132G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1775G>T; c.452G>A; R151Q; +1 more
context: Compound heterozygous candidate
|
29604063
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal of pathology, 2018
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.3251G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.193G>T; E65*
context: Compound heterozygous candidate
|
29604063
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal of pathology, 2018
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.4150C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28600779
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Human genetics, 2017
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.2929A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4028delA; p.K1343fs; fs
context: Compound heterozygous candidate
|
28157192
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Scientific reports, 2017
|
Main article | |
| CEP290 |
NM_025114.4:c.3758G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2578G>T; c.5254C>T; p.Arg1752Trp; +1 more
context: Compound heterozygous candidate
|
24265693
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PloS one, 2013
|
Main article | |
| CEP290 |
NM_025114.4:c.5226+5_5226+8del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.95T>C; p.L32S
context: Compound heterozygous candidate
|
23559409
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Human genetics, 2013
|
Main article | |
| CEP290 |
NM_025114.4:c.6628C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40565534
Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.
Genes, 2025
|
Main article | |
| CEP290 |
NM_025114.4:c.4577A>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36369640
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Journal of applied genetics, 2023
|
Main article | |
| CEP290 |
NM_025114.4:c.6320A>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
29974258
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatric nephrology (Berlin, Germany), 2018
|
Main article | |
| CEP290 |
NM_025114.4:c.2320G>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
28152038
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
PloS one, 2017
|
Supplementary material | |
| CEP290 |
NM_025114.4:c.3593C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
26496393
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
PloS one, 2015
|
Supplementary material | |