ClinVar Miner

Variants from Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria

Location: Spain  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 likely risk allele total
9 11 15 0 0 1 36

Gene and significance breakdown #

Total genes and gene combinations: 33
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely risk allele total
GAA 3 0 0 0 3
ODAD1 0 1 1 0 2
ABCC9 0 0 1 0 1
ACTC1, GJD2-DT 1 0 0 0 1
ACTN2 0 0 1 0 1
ADA2 0 0 1 0 1
AIFM1, RAB33A 0 0 1 0 1
BICD2 1 0 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216, NBR2 0 0 1 0 1
CFTR 0 0 0 1 1
CFTR, LOC111674472 1 0 0 0 1
CFTR, LOC111674477 0 1 0 0 1
COL4A3, MFF-DT 0 0 1 0 1
DNAH11 0 1 0 0 1
DSP 0 1 0 0 1
GRIN1 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 1
MHRT, MYH7 1 0 0 0 1
MYBPC3 0 0 1 0 1
NF1 0 1 0 0 1
NPHS2 0 0 1 0 1
PKP2 0 1 0 0 1
POU3F4 0 0 1 0 1
PRPF8 0 0 1 0 1
PTEN 1 0 0 0 1
SCN5A 0 1 0 0 1
SERPINA1 0 1 0 0 1
SMAD4 0 1 0 0 1
SOD1 0 0 1 0 1
STING1 0 0 1 0 1
TP63 0 0 1 0 1
TRPC6 1 0 0 0 1
TTN 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely risk allele total
Cystic fibrosis 1 1 0 1 3
Glycogen storage disease, type II 3 0 0 0 3
Primary ciliary dyskinesia 20 0 1 1 0 2
Alpha-1-antitrypsin deficiency 0 1 0 0 1
Amyotrophic lateral sclerosis type 1 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 1 0 1
Brugada syndrome 1 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked recessive 4 0 0 1 0 1
Cowden syndrome 1 1 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 1
Dilated cardiomyopathy 1G 0 1 0 0 1
Dilated cardiomyopathy 1O 0 0 1 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 0 1 0 1
Focal segmental glomerulosclerosis 2 1 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 1
Hypertrophic cardiomyopathy 11 1 0 0 0 1
Intellectual disability, autosomal dominant 8 0 1 0 0 1
Juvenile polyposis syndrome 0 1 0 0 1
Left ventricular noncompaction 10 0 0 1 0 1
MYH7-related skeletal myopathy 1 0 0 0 1
Nephrotic syndrome, type 2 0 0 1 0 1
Neurofibromatosis, type 1 0 1 0 0 1
Primary ciliary dyskinesia 7 0 1 0 0 1
Retinitis pigmentosa 13 0 0 1 0 1
STING-associated vasculopathy with onset in infancy 0 0 1 0 1
Vasculitis due to ADA2 deficiency 0 0 1 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 1 0 1
focal and segmental glomerulosclerosis 0 0 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.