ClinVar Miner

Variants from Gene Discovery Core-Manton Center,Boston Children's Hospital

Location: United States — Primary collection method: clinical testing
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
7 4 1 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 11
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
PMPCA 2 0 0 2
AIFM1, RAB33A 1 0 0 1
ATP1A3 1 0 0 1
CAMK2B 0 1 0 1
CLTC 0 0 1 1
FBXO11 0 1 0 1
MAP1B 1 0 0 1
PPM1D 1 0 0 1
PRKAR1A 0 1 0 1
TFAP2B 0 1 0 1
WNT2B 1 0 0 1

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Normal pressure hydrocephalus; Failure to thrive; Optic atrophy; Hypoventilation; Blindness; Bilateral ptosis; Hypertrophic cardiomyopathy; Global brain atrophy; Chronic lactic acidosis; Restrictive external ophthalmoplegia; Infantile muscular hypotonia; Severe global developmental delay; Diffuse cerebellar atrophy 2 0 0 2
Acrodysostosis 1 with or without hormone resistance 0 1 0 1
Char syndrome 0 1 0 1
Combined oxidative phosphorylation deficiency 6 1 0 0 1
Failure to thrive; Diarrhea; Failure to thrive in infancy; Chronic diarrhea; Impaired feeding ability 1 0 0 1
Global developmental delay; Abnormal facial shape; Pyloric stenosis; Metopic synostosis; Attention deficit hyperactivity disorder; Muscular hypotonia 1 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 1
Juvenile onset psychosis 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 0 1 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 0 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.