GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYP1B1 M1Tinsufficiently evaluated pathogenicunknown

(12 web hits)

CYP1B1 R48Ginsufficiently evaluated none, f=0.349unknown

(189 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CYP1B1 W57Xinsufficiently evaluated pathogenic, f=0.000unknown

(20 web hits)

CYP1B1 G61Einsufficiently evaluated pathogenic, f=0.000unknown

(205 web hits)

CYP1B1 Y81Nuncertain benign, f=0.003recessive

Reported to cause primary open angle glaucoma in a recessive manner. This assertion in ClinVar is reported by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008185/), and is based on Melki et al 2004 (PMID: 15342693). Studying 236 unrelated patients, this variant was seen heterozygously in two of them. Although the authors didn’t find this mutation in 394 control chromosomes, ExAC data indicates this variant has an allele frequency of 0.7% in European ancestry. About 1 in 70 are expected to carry the variant, and so finding it twice in 236 individuals represents no enrichment relative to the general population.

(50 web hits)

CYP1B1 A119SFASinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
CYP1B1 A119Sinsufficiently evaluated none, f=0.339unknown

(167 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CYP1B1 A148Tinsufficiently evaluated not reviewedunknown

(35 web hits)

CYP1B1 G232Rinsufficiently evaluated pathogenicunknown

(11 web hits)

CYP1B1 L315Pinsufficiently evaluated not reviewed, f=0.000unknown
CYP1B1 V320Linsufficiently evaluated pathogenicrecessive

Variants in this gene are implicated in Primary congenital glaucoma in Japanese patients. Three unrelated individuals appear to be compound heterozygous with this variant, but there is insufficient data on the frequency of the variant in controls to make this significant.

CYP1B1 L343Vinsufficiently evaluated not reviewedunknown
CYP1B1 G365Rinsufficiently evaluated not reviewedunknown

(1 web hit)

CYP1B1 G365Winsufficiently evaluated pathogenicunknown

(14 web hits)

CYP1B1 R368Hlikely pathogenic, f=0.001recessive

This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene.

(269 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS00253-DNA_D01_200_37
CYP1B1 D374Ninsufficiently evaluated pathogenicunknown

(49 web hits)

CYP1B1 E387Qinsufficiently evaluated not reviewedunknown
CYP1B1 E387Kinsufficiently evaluated pathogenic, f=0.000unknown

(76 web hits)

CYP1B1 K387Einsufficiently evaluated pathogenicunknown
CYP1B1 N423Yinsufficiently evaluated pathogenicunknown

(4 web hits)

CYP1B1 Q424Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CYP1B1 L432Vinsufficiently evaluated pharmacogeneticunknown

(146 web hits)

CYP1B1 V432Linsufficiently evaluated pharmacogenetic, f=0.445unknown

(200 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CYP1B1 P435Linsufficiently evaluated not reviewedunknown

(2 web hits)

CYP1B1 A443Ginsufficiently evaluated not reviewed, f=0.020unknown var-GS21767-1100-36-ASM
CYP1B1 N453Sinsufficiently evaluated none, f=0.133unknown

(187 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CYP1B1 R469Winsufficiently evaluated pathogenic, f=0.000unknown

(135 web hits)

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Total results: 27

Gene search

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