ClinVar Miner

Variants from National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health

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
46 19 3 0 0 68

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AIRE 28 3 1 32
LDLR 1 5 0 6
BRCA2 4 1 0 5
RYR1 3 0 0 3
ATP7B 0 1 1 2
BRCA1 2 0 0 2
MYBPC3 1 1 0 2
MYH7 0 2 0 2
PKP2 1 1 0 2
TGFBR2 2 0 0 2
APOB 1 0 0 1
DSC2 0 1 0 1
DSP 0 1 0 1
FBN1 0 1 0 1
LOC107303340, VHL 0 1 0 1
MUTYH 1 0 0 1
PALB2 1 0 0 1
SCN5A 0 0 1 1
SMAD3 0 1 0 1
SMAD4 1 0 0 1

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance total
Polyglandular autoimmune syndrome, type 1 28 3 1 32
Familial hypercholesterolemia 2 5 0 7
Hereditary breast ovarian cancer syndrome 6 0 0 6
Hypertrophic cardiomyopathy 1 2 0 3
Arrhythmogenic right ventricular cardiomyopathy 1 1 0 2
Malignant hyperthermia of anesthesia 2 0 0 2
Wilson disease 0 1 1 2
Aneurysm-osteoarthritis syndrome 0 1 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 1
Breast cancer, susceptibility to 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 1
Familial adenomatous polyposis 2 1 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 0 1
Loeys-Dietz syndrome 1 0 0 1
Loeys-Dietz syndrome 2 1 0 0 1
Long QT syndrome; Brugada syndrome 0 0 1 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 1
Marfan syndrome 0 1 0 1
Von Hippel-Lindau syndrome 0 1 0 1

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