ClinVar Miner

Variants from Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine

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 risk factor total
140 62 0 0 0 3 205

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic risk factor total
BRCA2 29 2 0 31
LDLR 9 19 0 28
BRCA1 16 2 0 18
CHEK2 9 1 0 10
PALB2 8 2 0 10
PMS2 7 2 0 9
KCNQ1 3 4 0 7
PKP2 5 2 0 7
MSH6 4 1 0 5
SCN5A 3 2 0 5
ATM 3 1 0 4
ATM, C11orf65 2 2 0 4
DSG2 1 3 0 4
MYBPC3 3 1 0 4
MYH7 2 2 0 4
RET 3 1 0 4
RYR1 3 1 0 4
KCNE1 1 1 1 3
MC4R 1 2 0 3
MLH1 2 1 0 3
APC 1 0 1 2
KCNH2 1 1 0 2
PTEN 2 0 0 2
SDHB 2 0 0 2
TNNI3 1 1 0 2
TNNT2 2 0 0 2
TP53 1 1 0 2
APOB 1 0 0 1
CACNA1A 1 0 0 1
COL3A1 0 1 0 1
DSC2 0 1 0 1
DSP 0 1 0 1
F11 1 0 0 1
F5 1 0 0 1
FBN1 1 0 0 1
FLG 1 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 1
HFE 1 0 0 1
HNF1A 1 0 0 1
INSL6, JAK2 1 0 0 1
KCNE2 0 0 1 1
LMNA 0 1 0 1
LOC107303340, VHL 1 0 0 1
MEFV 0 1 0 1
MYL3 1 0 0 1
OTC 1 0 0 1
PCSK9 0 1 0 1
SERPINA1 1 0 0 1
SMAD3 0 1 0 1
SMAD4 1 0 0 1
TSC2 1 0 0 1

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic risk factor total
Breast-ovarian cancer, familial 2 29 2 0 31
Familial cancer of breast 22 6 0 28
Familial hypercholesterolemia 9 19 0 28
Breast-ovarian cancer, familial 1 16 2 0 18
Hereditary nonpolyposis colorectal cancer type 4 7 2 0 9
Arrhythmogenic right ventricular cardiomyopathy, type 9 5 2 0 7
Long QT syndrome 1 3 4 0 7
Hereditary nonpolyposis colorectal cancer type 5 4 1 0 5
Long QT syndrome 3 3 2 0 5
Arrhythmogenic right ventricular cardiomyopathy, type 10 1 3 0 4
Familial hypertrophic cardiomyopathy 1 2 2 0 4
Familial hypertrophic cardiomyopathy 4 3 1 0 4
Malignant hyperthermia, susceptibility to, 1 3 1 0 4
Multiple endocrine neoplasia, type 2a 3 1 0 4
Long QT syndrome 5 1 1 1 3
Lynch syndrome II 2 1 0 3
Obesity 1 2 0 3
Cowden syndrome 1 2 0 0 2
Familial adenomatous polyposis 1 1 0 1 2
Familial hypertrophic cardiomyopathy 7 1 1 0 2
Left ventricular noncompaction 6 2 0 0 2
Li-Fraumeni syndrome 1 1 1 0 2
Long QT syndrome 2 1 1 0 2
Paragangliomas 4 2 0 0 2
Alpha-1-antitrypsin deficiency 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 1 0 1
Dilated cardiomyopathy 1A 0 1 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 1
Episodic ataxia type 2 1 0 0 1
Fabry disease 1 0 0 1
Factor V deficiency 1 0 0 1
Familial Mediterranean fever 0 1 0 1
Familial hypertrophic cardiomyopathy 8 1 0 0 1
Hemochromatosis type 1 1 0 0 1
Hereditary factor XI deficiency disease 1 0 0 1
Hypercholesterolemia, autosomal dominant, 3 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Ichthyosis vulgaris 1 0 0 1
Juvenile polyposis syndrome 1 0 0 1
Loeys-Dietz syndrome 3 0 1 0 1
Long QT syndrome 6 0 0 1 1
Marfan syndrome 1 0 0 1
Maturity-onset diabetes of the young, type 3 1 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 1
Polycythemia vera 1 0 0 1
Tuberous sclerosis 2 1 0 0 1
Von Hippel-Lindau syndrome 1 0 0 1

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