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
326 167 107 1 0 3 604

Gene and significance breakdown #

Total genes and gene combinations: 103
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
LDLR 27 37 2 0 0 66
BRCA2 51 3 1 0 0 55
BRCA1 27 4 0 0 0 31
AHDC1 27 0 0 0 0 27
RYR1 4 5 13 0 0 22
PALB2 11 5 1 0 0 17
TP53 13 3 0 0 0 16
CHEK2 10 5 0 0 0 15
KCNQ1 7 5 2 0 0 14
PMS2 10 3 1 0 0 14
ATM 9 2 1 0 0 12
PKP2 8 2 2 0 0 12
FBN1 2 4 5 0 0 11
MLH1 7 3 1 0 0 11
MYBPC3 9 2 0 0 0 11
SCN5A 3 6 2 0 0 11
ATM, C11orf65 6 4 0 0 0 10
MSH6 8 2 0 0 0 10
MYH7 4 6 0 0 0 10
POLR2A 1 8 0 1 0 10
BRCA1, LOC126862571 9 0 0 0 0 9
NF1 8 1 0 0 0 9
APOB 1 1 6 0 0 8
DSG2 2 6 0 0 0 8
DSP 0 1 7 0 0 8
KCNH2 2 3 3 0 0 8
TSC2 1 2 5 0 0 8
COL5A1 0 0 7 0 0 7
PTEN 5 1 0 0 0 6
COL3A1 0 2 3 0 0 5
DSC2 0 1 4 0 0 5
MSH2 5 0 0 0 0 5
RET 3 2 0 0 0 5
RYR2 0 0 5 0 0 5
TNNT2 2 2 1 0 0 5
KCNE1 1 1 1 0 1 4
PCSK9 0 1 3 0 0 4
SDHA 2 2 0 0 0 4
TNNI3 2 2 0 0 0 4
APC 2 0 0 0 1 3
CACNA1A 1 0 2 0 0 3
HNF1A 1 0 2 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 1 0 2 0 0 3
SDHC 1 1 1 0 0 3
TGFBR2 1 1 1 0 0 3
TTN 1 2 0 0 0 3
UMOD 0 3 0 0 0 3
CACNA1S 0 0 2 0 0 2
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
LMNA 0 2 0 0 0 2
LOC107303340, VHL 1 1 0 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
SDHB 2 0 0 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
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
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: 94
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Condition pathogenic likely pathogenic uncertain significance likely benign risk factor total
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 hypercholesterolemia 12 11 8 0 0 31
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
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 10 3 1 0 0 14
Hypertrophic cardiomyopathy 1 5 8 0 0 0 13
Lynch syndrome 4 9 3 1 0 0 13
Arrhythmogenic right ventricular dysplasia 9 8 2 2 0 0 12
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
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
Lynch syndrome 5 7 2 0 0 0 9
Arrhythmogenic right ventricular dysplasia 8 0 1 7 0 0 8
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
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
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 to 1 4 0 0 0 5
Ehlers-Danlos syndrome, type 4 0 2 3 0 0 5
Long QT syndrome 3 3 2 0 0 0 5
Hypercholesterolemia, autosomal dominant, 3 0 1 3 0 0 4
Hypertrophic cardiomyopathy 7 2 2 0 0 0 4
Li-Fraumeni syndrome 3 1 0 0 0 4
Lynch syndrome 1 4 0 0 0 0 4
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 3 1 0 0 0 4
Aortic aneurysm, familial thoracic 7 1 0 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
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
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 3 1 0 1 0 0 2
Paragangliomas 4 2 0 0 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
Von Hippel-Lindau syndrome 1 1 0 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
Colorectal cancer susceptibility 12 0 0 1 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
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
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 0 1 0 0 0 1
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood 0 1 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 0 1
not specified 0 0 0 1 0 1

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