ClinVar Miner

Variants from Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health

Location: United States — Primary collection method: not provided
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
16 8 0 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic total
CCDC47 0 4 4
MED23 2 0 2
NAGLU 2 0 2
PANK2 2 0 2
PIGT 2 0 2
SLC12A2 1 1 2
ADGRB2 0 1 1
ATP13A2 1 0 1
DARS1 1 0 1
ERCC6, ERCC6-PGBD3 1 0 1
GRIN2B 1 0 1
MOGS 0 1 1
RAI1 1 0 1
SMS 1 0 1
STIM1 1 0 1
UBTF 0 1 1

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic total
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 0 4 4
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 2 0 2
Mental retardation, autosomal recessive 18 2 0 2
Mucopolysaccharidosis, MPS-III-B 2 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 2 0 2
Cockayne syndrome B 1 0 1
Congenital disorder of glycosylation type 2B 0 1 1
Hypomyelination with brainstem and spinal cord involvement and leg spasticity 1 0 1
Infant onset multiple organ failure 0 1 1
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability 0 1 1
Kilquist Syndrome 1 0 1
Mental retardation, autosomal dominant 6 1 0 1
Parkinson disease 9 1 0 1
Progressive spastic paraparesis 0 1 1
Smith-Magenis syndrome 1 0 1
Snyder Robinson syndrome 1 0 1
not provided 1 0 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.