ClinVar Miner

Variants from Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine

Location: Korea, Republic of  Primary collection method: research
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
12 0 0 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic total
KCNQ4 3 3
MPZL2 3 3
MYO15A 3 3
OSBPL2 1 1
OTOA 1 1
OTOG 1 1

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic total
Autosomal dominant nonsyndromic hearing loss 2A 3 3
Autosomal recessive nonsyndromic hearing loss 3 3 3
Hearing loss, autosomal recessive 111 3 3
Autosomal dominant nonsyndromic hearing loss 67 1 1
Autosomal recessive nonsyndromic hearing loss 18B 1 1
Autosomal recessive nonsyndromic hearing loss 22 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.