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Recognized gene
CYP1B1
Normalized c.HGVS
c.-2G>A, c.1103G>A, c.1290C>G, c.1291C>T, c.1412T>A and 11 more
Normalized p.HGVS
p.(=), p.(Arg124His), p.(Arg163Cys), p.(Arg284Trp), p.(Arg368His) and 11 more
Matching records
121
PM3-positive records
38
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 |
|---|---|---|---|---|---|---|
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Homozygous for query variant
context: Confirmed in trans
|
36239105
Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.
Genomics & informatics, 2022
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1063C > T; p.Arg355Stop; p.R355X
context: Confirmed in trans
|
20827438
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.
Case reports in medicine, 2010
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1290C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
39158757
Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Japanese journal of ophthalmology, 2024
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1168C>A; p.(Arg390Ser)
context: Compound heterozygous candidate
|
38755526
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
BMC genomics, 2024
|
Supplementary material | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38386645
Genetic changes and testing associated with childhood glaucoma: A systematic review.
PloS one, 2024
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38146977
In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence.
Indian journal of ophthalmology, 2024
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1360_1361insGATG*; c.346_363del; c.349C>T
context: Compound heterozygous candidate
|
38249508
Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.
Taiwan journal of ophthalmology, 2023
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38249492
Approach to primary congenital glaucoma: A perspective.
Taiwan journal of ophthalmology, 2023
|
Main article | |
| CYP1B1 |
NM_000104.4:c.732G>T
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36083974
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
PloS one, 2022
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35515562
Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.
RSC advances, 2019
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A287Pfs6; truncation
context: Compound heterozygous candidate
|
29522511
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
PLoS genetics, 2018
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Gly61Glu
context: Compound heterozygous candidate
|
28448622
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
PloS one, 2017
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27777502
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Molecular vision, 2016
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.109C>T; p.Q37*
context: Compound heterozygous candidate
|
27508083
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.
Human genome variation, 2016
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 1546dup10; M292K; frameshift
context: Compound heterozygous candidate
|
27243976
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
PloS one, 2016
|
Main article | |
| CYP1B1 |
NM_000104.4:c.985G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with T325SfsX104; fsX104
context: Compound heterozygous candidate
|
27243976
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
PloS one, 2016
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26005556
Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma.
Journal of ophthalmic & vision research, 2015
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
25978063
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
PloS one, 2015
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1290C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26997785
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Journal of current glaucoma practice, 2013
|
Main article | |