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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 13 more
Normalized p.HGVS
p.(=), p.(Arg124His), p.(Arg163Cys), p.(Arg284Trp), p.(Arg368His) and 13 more
Matching records
155
PM3-positive records
52
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
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
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.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41739114
Management of primary congenital glaucoma in the Indian population.
Indian journal of ophthalmology, 2026
|
Main article | |
| CYP1B1 |
NM_000104.4:c.171G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.G1090A; p.V364M
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
|
38671671
Exploring the Genetic Landscape of Childhood Glaucoma.
Children (Basel, Switzerland), 2024
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
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.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.G61E; p.R355X; p.R390H
context: Compound heterozygous candidate
|
36950438
Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.
Pakistan journal of medical sciences, 2023
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with R355Hfs*69; W57*
context: Compound heterozygous candidate
|
35085548
Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.
American journal of ophthalmology, 2022
|
Main article | |
| CYP1B1 |
NM_000104.4:c.171G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1147G>A; p.(Ala383Thr)
context: Compound heterozygous candidate
|
32830442
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
American journal of medical genetics. Part C, Seminars in medical genetics, 2020
|
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
|
Homozygous for query variant
context: Homozygous evidence
|
30788381
Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients.
Molecular biology research communications, 2018
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
30479709
P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran.
Journal of ophthalmic & vision research, 2018
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
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
|
Confirmed in trans with R355Hfs*69; W57*
context: Confirmed in trans
|
29168043
Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 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
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
28384041
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.
Genetic testing and molecular biomarkers, 2017
|
Main article | |