ClinVar Miner

Variants studied for Robin sequence; Autistic behavior; Short stature; Anemia; Distal arthrogryposis; Spastic diplegia; Gingival overgrowth; Dolichocephaly; Abnormality of mitochondrial metabolism; Congenital facial diplegia; Congenital encephalopathy; Congenital bilateral ptosis; Congenital conductive hearing impairment; Symptomatic seizures; Severe global developmental delay; Oromandibular dystonia; Mitochondrial respiratory chain defects

Coded as:
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
0 1 3 0 0 4

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination likely pathogenic uncertain significance total
CHRNA1 0 1 1
DLD 0 1 1
PNPLA6 1 0 1
SPG7 0 1 1

Submitter and significance breakdown #

Total submitters: 1
Download table as spreadsheet
Submitter likely pathogenic uncertain significance total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 4

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.