ClinVar Miner

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

Location: United States  Primary collection method: clinical testing
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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
390 210 107 1 0 3 699

Gene and significance breakdown #

Total genes and gene combinations: 107
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
LDLR 44 41 2 0 0 79
BRCA2 61 4 1 0 0 66
BRCA1 32 5 0 0 0 35
RYR1 6 13 13 0 0 32
AHDC1 27 0 0 0 0 27
PMS2 12 6 1 0 0 19
KCNQ1 9 7 2 0 0 18
TP53 14 4 0 0 0 18
CHEK2 10 6 0 0 0 16
PALB2 10 5 1 0 0 16
MYBPC3 12 3 0 0 0 15
DSP 4 3 7 0 0 14
MSH6 11 3 0 0 0 14
MYH7 4 10 0 0 0 14
PKP2 10 2 2 0 0 14
ATM 9 2 1 0 0 12
MLH1 7 4 1 0 0 12
FBN1 2 4 5 0 0 11
SCN5A 3 6 2 0 0 11
ATM, C11orf65 6 4 0 0 0 10
BRCA1, LOC126862571 10 0 0 0 0 10
POLR2A 1 8 0 1 0 10
APOB 1 2 6 0 0 9
KCNH2 3 4 3 0 0 9
NF1 8 1 0 0 0 9
TSC2 2 2 5 0 0 9
DSG2 2 6 0 0 0 8
COL3A1 1 3 3 0 0 7
COL5A1 0 0 7 0 0 7
MSH2 6 1 0 0 0 7
PTEN 6 1 0 0 0 7
SDHC 1 4 1 0 0 6
DSC2 0 1 4 0 0 5
RET 3 2 0 0 0 5
RYR2 0 0 5 0 0 5
TNNI3 2 4 0 0 0 5
TNNT2 2 2 1 0 0 5
APC 3 0 0 0 1 4
KCNE1 1 1 1 0 1 4
MUTYH 3 1 0 0 0 4
PCSK9 0 1 3 0 0 4
SDHA 2 2 0 0 0 4
CACNA1A 1 0 2 0 0 3
CACNA1S 0 1 2 0 0 3
HNF1A 1 0 2 0 0 3
LMNA 1 2 0 0 0 3
LOC107303340, VHL 2 1 0 0 0 3
LPL 2 1 0 0 0 3
MC4R 1 2 0 0 0 3
MYH11 0 0 3 0 0 3
MYLK 0 1 2 0 0 3
SDHB 2 1 0 0 0 3
TGFBR2 1 1 1 0 0 3
TTN 1 2 0 0 0 3
UMOD 0 3 0 0 0 3
CBL 1 1 0 0 0 2
DICER1 2 0 0 0 0 2
F11 2 0 0 0 0 2
GLA, RPL36A-HNRNPH2 2 0 0 0 0 2
HNF1B 0 1 1 0 0 2
HRAS, LRRC56 2 0 0 0 0 2
KCNJ2 0 0 2 0 0 2
LOC126861898, MYH7 1 1 0 0 0 2
MEN1 0 1 1 0 0 2
MYH11, NDE1 0 0 2 0 0 2
TMEM43 0 0 2 0 0 2
TSC1 0 0 2 0 0 2
ABCA1 0 1 0 0 0 1
ACTA2 0 0 1 0 0 1
ALK 0 1 0 0 0 1
ATP1A2 0 1 0 0 0 1
BMPR1A 0 1 0 0 0 1
CCDST, FLG 1 0 0 0 0 1
CRHR1, KANSL1, MAPT, PLEKHM1, SPPL2C, STH 1 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
ELN 0 1 0 0 0 1
F5 1 0 0 0 0 1
FBN1, LOC113939944 0 0 1 0 0 1
HFE 1 0 0 0 0 1
INSL6, JAK2 1 0 0 0 0 1
KCNE2, LOC105372791 0 0 0 0 1 1
KIF1A 1 0 0 0 0 1
LMNA, LOC126805877 0 1 0 0 0 1
LOC107982234, WT1 0 0 1 0 0 1
LOC126806068, RYR2 0 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 1
LOC126862482, POLR2A 1 0 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 1
MED13L 1 0 0 0 0 1
MEFV 0 1 0 0 0 1
MYL3 1 0 0 0 0 1
NEXN 0 1 0 0 0 1
OTC 1 0 0 0 0 1
POLE 0 0 1 0 0 1
PRKAR1A 0 1 0 0 0 1
PTCH1 0 1 0 0 0 1
SDHD 1 0 0 0 0 1
SERPINA1 1 0 0 0 0 1
SMAD3 0 1 0 0 0 1
SMAD4 1 0 0 0 0 1
STK11 0 0 1 0 0 1
TGFB2 1 0 0 0 0 1
TOR1A 1 0 0 0 0 1
TPM1 0 0 1 0 0 1
TUSC3 1 0 0 0 0 1
WT1 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 110
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Condition pathogenic likely pathogenic uncertain significance likely benign risk factor total
Familial hypercholesterolemia 29 17 8 0 0 54
Breast-ovarian cancer, familial, susceptibility to, 2 46 3 1 0 0 50
Hypercholesterolemia, familial, 1 16 26 0 0 0 42
Rhabdomyosarcoma 36 6 0 0 0 42
Breast-ovarian cancer, familial, susceptibility to, 1 35 4 0 0 0 39
Familial cancer of breast 22 6 0 0 0 28
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 27 0 0 0 0 27
Malignant hyperthermia, susceptibility to, 1 4 5 13 0 0 22
Hereditary breast ovarian cancer syndrome 17 3 0 0 0 20
Arrhythmogenic right ventricular dysplasia 9 10 2 2 0 0 14
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 10 3 1 0 0 14
Arrhythmogenic right ventricular dysplasia 8 4 2 7 0 0 13
Hypertrophic cardiomyopathy 1 5 8 0 0 0 13
Lynch syndrome 6 7 0 0 0 13
Lynch syndrome 4 9 3 1 0 0 13
Marfan syndrome 2 4 6 0 0 12
Colorectal cancer, hereditary nonpolyposis, type 2 7 3 1 0 0 11
Hypertrophic cardiomyopathy 4 9 2 0 0 0 11
Hypertrophic cardiomyopathy 3 7 0 0 0 10
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 2 8 0 0 0 10
Arrhythmogenic right ventricular dysplasia 10 2 7 0 0 0 9
Congenital multicore myopathy with external ophthalmoplegia 1 8 0 0 0 9
Lynch syndrome 5 7 2 0 0 0 9
Long QT syndrome 2 2 3 3 0 0 8
Tuberous sclerosis 2 1 2 5 0 0 8
Ehlers-Danlos syndrome, classic type, 1 0 0 7 0 0 7
Ehlers-Danlos syndrome, type 4 1 3 3 0 0 7
Long QT syndrome 3 4 0 0 0 7
Long QT syndrome 1 3 4 0 0 0 7
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 4 1 2 0 0 7
Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to 3 3 1 0 0 7
Brugada syndrome 1; Long QT syndrome 3 0 4 2 0 0 6
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 6 0 0 6
Li-Fraumeni syndrome 4 2 0 0 0 6
Aortic aneurysm, familial thoracic 4 0 0 5 0 0 5
Arrhythmogenic right ventricular dysplasia 11 0 1 4 0 0 5
Breast cancer, susceptibility to; Prostate cancer susceptibility 1 4 0 0 0 5
Long QT syndrome 3 3 2 0 0 0 5
Paragangliomas 3 1 3 1 0 0 5
Familial adenomatous polyposis 2 3 1 0 0 0 4
Hypercholesterolemia, autosomal dominant, 3 0 1 3 0 0 4
Hypertrophic cardiomyopathy 7 2 2 0 0 0 4
Lynch syndrome 1 4 0 0 0 0 4
Multiple endocrine neoplasia type 2A 3 1 0 0 0 4
Aortic aneurysm, familial thoracic 7 0 1 2 0 0 3
Dilated cardiomyopathy 1A 0 3 0 0 0 3
Dilated cardiomyopathy 1G 1 2 0 0 0 3
Episodic ataxia type 2 1 0 2 0 0 3
Familial adenomatous polyposis 1 2 0 0 0 1 3
Familial juvenile hyperuricemic nephropathy type 1 0 3 0 0 0 3
Hyperlipidemia, familial combined, LPL related 2 1 0 0 0 3
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D 0 2 1 0 0 3
Intellectual disability 3 0 0 0 0 3
Loeys-Dietz syndrome 2 1 1 1 0 0 3
Long QT syndrome 5 1 1 0 0 1 3
Malignant hyperthermia, susceptibility to 2 1 0 0 0 3
Maturity-onset diabetes of the young type 3 1 0 2 0 0 3
Obesity 1 2 0 0 0 3
PTEN hamartoma tumor syndromes 2 1 0 0 0 3
Paragangliomas 4 2 1 0 0 0 3
Von Hippel-Lindau syndrome 2 1 0 0 0 3
Andersen Tawil syndrome 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 5 0 0 2 0 0 2
Cowden syndrome 1 2 0 0 0 0 2
Dilated cardiomyopathy 1D 2 0 0 0 0 2
Fabry disease 2 0 0 0 0 2
Generalized juvenile polyposis/juvenile polyposis coli 1 1 0 0 0 2
Hypercholesterolemia, autosomal dominant, type B 1 1 0 0 0 2
Li-Fraumeni syndrome 1 1 1 0 0 0 2
Malignant hyperthermia, susceptibility to, 5 0 0 2 0 0 2
Multiple endocrine neoplasia, type 1 0 1 1 0 0 2
Paragangliomas 5 0 2 0 0 0 2
Peutz-Jeghers syndrome 0 0 2 0 0 2
Renal cysts and diabetes syndrome 0 1 1 0 0 2
Tuberous sclerosis 1 0 0 2 0 0 2
Wilms tumor 1 0 1 1 0 0 2
Acquired polycythemia vera 1 0 0 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 0 1
Aneurysm-osteoarthritis syndrome 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 1 0 0 0 1
Brugada syndrome 1 0 0 0 0 1
Colorectal cancer susceptibility 12 0 0 1 0 0 1
Congenital adrenal hyperplasia 1 0 0 0 0 1
Dilated cardiomyopathy 1CC 0 1 0 0 0 1
Early-onset generalized limb-onset dystonia 1 0 0 0 0 1
Factor V deficiency 1 0 0 0 0 1
Factor XI 1 0 0 0 0 1
Familial Mediterranean fever 0 1 0 0 0 1
Familial multiple polyposis syndrome 1 0 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 1
Hereditary factor XI deficiency disease 1 0 0 0 0 1
Hypertrophic cardiomyopathy 3 0 0 1 0 0 1
Hypertrophic cardiomyopathy 8 1 0 0 0 0 1
Hypoalphalipoproteinemia, primary, 1 0 1 0 0 0 1
Ichthyosis vulgaris 1 0 0 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 0 1
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 0 0 1 0 0 1
Loeys-Dietz syndrome 4 1 0 0 0 0 1
Long QT syndrome 6 0 0 0 0 1 1
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood 0 1 0 0 0 1
Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A 0 1 0 0 0 1
Multiple endocrine neoplasia, type 2 0 1 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 1
PTEN hamartoma tumor syndrome 1 0 0 0 0 1
Paragangliomas 1 1 0 0 0 0 1
Primary dilated cardiomyopathy 1 0 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 0 1
Tuberous sclerosis syndrome 1 0 0 0 0 1
not specified 0 0 0 1 0 1

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