ClinVar Miner

Variants from Laboratory of Medical Genetics, INSERM

Location: France — Primary collection method: provider interpretation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
62 0 0 0 0 62

Gene and significance breakdown #

Total genes and gene combinations: 17
Download table as spreadsheet
Gene or gene combination pathogenic total
BBS10 10 10
BBS12 8 8
IFT140 7 7
BBS1, ZDHHC24 6 6
IFT140, LOC105371046 5 5
MKKS 5 5
BBS4 4 4
BBS9 4 4
BBS1 3 3
BBS5 2 2
KARS1 2 2
BBS2 1 1
BBS7 1 1
IFT27 1 1
IFT27, LOC105373021 1 1
MYH10 1 1
PSMC3 1 1

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic total
Bardet-Biedl syndrome 46 46
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 7 7
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 4 4
Optic neuropathy; Progressive cerebellar ataxia; Abnormality of the cerebral white matter; Abnormal pyramidal signs; Congenital sensorineural hearing impairment 2 2
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Cranioectodermal dysplasia 2 2
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 2 2
Congenital cataract; Severe sensorineural hearing impairment; Neurodevelopmental delay 1 1
Hypertelorism; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion 1 1
Hypertelorism; Congenital ocular coloboma; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.