ClinVar Miner

Variants from Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology

Location: Russian Federation — Primary collection method: reference population
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
1 0 12 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 13
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance total
ARMC4 0 1 1
ATIC 0 1 1
ATM 0 1 1
BBS7 1 0 1
C8B 0 1 1
CATSPER1 0 1 1
CENPF 0 1 1
HFM1 0 1 1
POLH 0 1 1
RECQL4 0 1 1
SCLT1 0 1 1
SDCCAG8 0 1 1
TRIM37 0 1 1

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic uncertain significance total
AICAR transformylase/IMP cyclohydrolase deficiency 0 1 1
Ataxia-telangiectasia syndrome 0 1 1
Bardet-Biedl syndrome 7 1 0 1
CATSPER-Related Male Infertility 0 1 1
Complement component 8 deficiency type 2 0 1 1
Mulibrey nanism syndrome 0 1 1
Orofaciodigital syndrome 9 0 1 1
Premature ovarian failure 9 0 1 1
Primary ciliary dyskinesia 23 0 1 1
Rothmund-Thomson syndrome 0 1 1
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 0 1 1
Stromme syndrome 0 1 1
Xeroderma pigmentosum, variant type 0 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.