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Items: 6

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:38298288-38298297
GRCh38:
Chr2:38071145-38071154
CYP1B1Glaucoma 3, primary congenital, A, Irido-corneo-trabecular dysgenesis, not provided
Pathogenic
(Apr 20, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr2:38298394
GRCh38:
Chr2:38071251
CYP1B1Glaucoma 3, primary congenital, A, Congenital ocular coloboma, GLAUCOMA, EARLY-ONSET, DIGENIC,
not specified
Conflicting interpretations of pathogenicity
(Mar 28, 2017)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr2:38301664
GRCh38:
Chr2:38074521
CYP1B1Congenital ocular coloboma, not providedConflicting interpretations of pathogenicity
(Jun 24, 2015)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr2:38301847
GRCh38:
Chr2:38074704
CYP1B1Congenital ocular coloboma, not provided, Primary congenital glaucoma
Conflicting interpretations of pathogenicity, other
(Jun 14, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr2:38302291
GRCh38:
Chr2:38075148
CYP1B1Primary open angle glaucoma, Congenital ocular coloboma, not specified
Conflicting interpretations of pathogenicity
(Aug 7, 2017)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr2:38302361
GRCh38:
Chr2:38075218
CYP1B1Glaucoma 3, primary congenital, A, Irido-corneo-trabecular dysgenesis, not provided,
CYP1B1-Related Disorders, Anterior segment dysgenesis 6
Pathogenic/Likely pathogenic
(Apr 19, 2017)
criteria provided, multiple submitters, no conflicts
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