ClinVar Miner

Variants from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

Location: France  Primary collection method: research
Minimum submission review status: Collection method:
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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
120 1 5 0 0 126

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PRMT9 19 1 3 23
BBS10 11 0 0 11
CDK10 11 0 0 11
BBS12 9 0 0 9
ALMS1 8 0 0 8
BBS1 6 0 0 6
BBS1, ZDHHC24 6 0 0 6
BBS4 6 0 0 6
IFT140 6 0 0 6
IFT140, LOC105371046 5 0 0 5
MKKS 5 0 0 5
BBS9 4 0 0 4
BBS5 3 0 0 3
CDK10, LINC02166 2 0 1 3
BBS2 2 0 0 2
CEMIP2 2 0 0 2
IQCE 2 0 0 2
KARS1 2 0 0 2
ARL6 1 0 0 1
ATP6V1B1 1 0 0 1
BBS5, LOC129935067, LOC129935068 1 0 0 1
BBS7 1 0 0 1
CACNG2-DT, IFT27 1 0 0 1
HORMAD1 1 0 0 1
IFT140, LOC126862260 1 0 0 1
IFT27 1 0 0 1
MYH10 1 0 0 1
PRMT9, TMEM184C 0 0 1 1
PSMC3 1 0 0 1
TULP1 1 0 0 1

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance total
Bardet-Biedl syndrome 53 0 0 53
Neurodevelopmental abnormality 19 1 4 24
Al Kaissi syndrome 13 0 1 14
Alstrom syndrome 8 0 0 8
Saldino-Mainzer syndrome 7 0 0 7
Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 4 0 0 4
Bardet-Biedl syndrome 1 2 0 0 2
Bardet-Biedl syndrome 4 2 0 0 2
Brachydactyly; Polydactyly, postaxial, type A1; Syndactyly; Retinal degeneration 2 0 0 2
Hypertelorism; Inguinal hernia; Abnormal sternum morphology; Myopia; Retinal dystrophy; Joint laxity 2 0 0 2
Optic neuropathy; Progressive cerebellar ataxia; Abnormal cerebral white matter morphology; Abnormal pyramidal sign; Congenital sensorineural hearing impairment 2 0 0 2
Polydactyly, postaxial, type A1 2 0 0 2
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 2 0 0 2
Saldino-Mainzer syndrome; Cranioectodermal dysplasia 2 0 0 2
Bardet-Biedl syndrome 12 1 0 0 1
Bardet-Biedl syndrome 2 1 0 0 1
Developmental cataract; Severe sensorineural hearing impairment; Neurodevelopmental delay 1 0 0 1
Hypertelorism; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion 1 0 0 1
Hypertelorism; Congenital ocular coloboma; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion 1 0 0 1
Male infertility 1 0 0 1
Polydactyly, postaxial, type A1; Nephrocalcinosis 1 0 0 1

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