ClinVar Miner

Variants from CSER _CC_NCGL, University of Washington

Location: United States  Primary collection method: research
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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 total
39 51 527 187 6 808

Gene and significance breakdown #

Total genes and gene combinations: 120
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR1 4 1 31 17 0 53
MYBPC3 3 5 36 5 0 49
BRCA2 3 1 12 20 2 37
LDLR 3 7 21 5 0 36
BRCA1 2 2 18 12 0 34
SCN5A 0 2 24 8 0 34
APC 0 0 21 7 0 27
MSH2 0 1 14 4 1 20
FBN1 0 0 12 6 1 19
TSC2 0 0 13 4 1 18
KCNQ1 1 1 12 3 0 17
RET 1 0 12 4 0 17
KCNH2 0 0 14 2 0 16
MYH7 0 3 13 0 0 16
MSH6 1 1 10 3 0 15
DSP 0 1 7 5 0 13
PROS1 0 1 11 1 0 13
LMNA 1 0 10 1 0 12
RYR2 0 0 11 1 0 12
CACNB2 0 0 10 1 0 11
MLH1 0 0 9 2 0 11
PKP2 0 2 7 2 0 11
PROC 1 2 8 0 0 11
CACNA1S 0 0 8 2 0 10
DMD 0 1 5 3 1 10
PMS2 4 2 4 0 0 10
TP53 2 2 3 3 0 10
DSC2 0 1 5 2 0 8
DSG2 0 1 6 1 0 8
CDH1 1 1 3 2 0 7
COL3A1 0 0 4 3 0 7
KCNE1 0 1 6 0 0 7
POLD1 0 0 6 1 0 7
PTCH1 0 1 4 2 0 7
SERPINA1 2 2 2 1 0 7
HMBS 0 1 3 2 0 6
KCNE2, LOC105372791 0 1 5 0 0 6
SERPINC1 0 0 4 2 0 6
ACVRL1 0 1 1 3 0 5
BRCA1, LOC126862571 2 0 0 3 0 5
CACNA1C 0 0 3 2 0 5
MLH3 0 0 4 1 0 5
MYH11, NDE1 0 0 3 2 0 5
MYLK 0 0 3 2 0 5
POLE 0 0 5 0 0 5
SDHB 0 0 4 1 0 5
ATP7B 1 0 3 0 0 4
AXIN2 1 0 1 2 0 4
ENG 0 0 3 1 0 4
ENG, LOC102723566 1 0 3 0 0 4
FLCN 1 0 3 0 0 4
KIT 0 0 4 0 0 4
LOC126861898, MYH7 0 1 3 0 0 4
MYH11 0 0 2 2 0 4
MYL3 0 1 3 0 0 4
RBM20 0 0 2 2 0 4
TNNT2 0 1 3 0 0 4
APOB 0 0 1 2 0 3
GLA, RPL36A-HNRNPH2 0 0 2 1 0 3
KCNJ2 0 0 3 0 0 3
LOC107303340, VHL 0 0 1 2 0 3
MEN1 0 0 1 2 0 3
OTC 0 0 3 0 0 3
PAH 0 0 1 2 0 3
SEMA4A 0 0 3 0 0 3
SGCD 0 0 2 1 0 3
STK11 0 0 3 0 0 3
TGFBR2 0 0 2 1 0 3
VHL 0 0 1 2 0 3
ATM, C11orf65 1 0 1 0 0 2
BLM 0 0 2 0 0 2
BMPR1A 0 0 1 1 0 2
DCC 0 0 2 0 0 2
EPCAM 0 0 1 1 0 2
FH 0 0 0 2 0 2
GCH1 0 0 1 1 0 2
LOC110121269, SCN5A 0 0 2 0 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 0 2
MUTYH 1 0 1 0 0 2
MYL2 0 1 1 0 0 2
PALB2 0 0 2 0 0 2
PCSK9 0 0 2 0 0 2
PMS1 0 0 2 0 0 2
SDHC 0 0 1 1 0 2
SLC7A9 0 1 1 0 0 2
TMEM127 0 0 0 2 0 2
TNNI3 0 1 1 0 0 2
XRCC2 0 0 2 0 0 2
B3GALT2, CDC73 0 0 0 1 0 1
CDC73 0 0 0 1 0 1
DM1, DMPK, LOC107075317 0 0 0 1 0 1
DMPK 0 0 1 0 0 1
FBN1, LOC113939944 0 0 1 0 0 1
FBN1, LOC126862124 0 0 1 0 0 1
FBN1, LOC130057019 0 0 1 0 0 1
GALNT12 0 0 1 0 0 1
GBA1, LOC106627981 0 0 1 0 0 1
GJB2 1 0 0 0 0 1
GREM1 0 0 1 0 0 1
HCN4 0 0 1 0 0 1
LDLR, MIR6886 1 0 0 0 0 1
LMNA, LOC126805877 0 0 0 1 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC126861897, MYH7 0 0 1 0 0 1
LOC129391106, RYR1 0 0 1 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 1
LOC130009266, POLE 0 0 0 1 0 1
MET 0 0 0 1 0 1
MHRT, MYH7 0 0 1 0 0 1
NBN 0 0 1 0 0 1
PRKAG2 0 0 0 1 0 1
PRKAR1A 0 0 1 0 0 1
PTEN 0 0 1 0 0 1
SDHD 0 0 1 0 0 1
SMAD4 0 0 0 1 0 1
TGFB3 0 0 1 0 0 1
TGFBR1 0 0 1 0 0 1
TPM1 0 0 1 0 0 1
TSC1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 154
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary familial hypertrophic cardiomyopathy 3 9 57 5 0 74
Long QT syndrome 1 1 47 9 0 58
Breast neoplasm 5 0 14 26 0 45
Arrhythmogenic right ventricular cardiomyopathy 0 5 28 7 0 40
Hypercholesterolemia 4 7 22 7 0 40
Colorectal cancer 0 0 25 2 0 27
Primary dilated cardiomyopathy 0 1 18 7 1 27
Colorectal cancer, non-polyposis 1 0 17 6 0 24
Malignant hyperthermia, susceptibility to, 1 4 1 11 7 0 23
Marfan syndrome 0 0 14 6 1 21
Hereditary breast ovarian cancer syndrome 1 3 8 3 2 17
Malignant hyperthermia of anesthesia 0 0 13 4 0 17
Tuberous sclerosis syndrome 0 0 13 3 1 17
Brugada syndrome 0 1 13 2 0 16
Lynch syndrome 1 3 8 3 1 16
Colorectal adenoma 0 0 9 4 0 13
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 11 1 0 13
Breast and/or ovarian cancer 0 0 8 4 0 12
Thrombophilia due to protein C deficiency, autosomal dominant 1 2 8 0 0 11
Aganglionic megacolon 0 0 7 2 0 9
Congenital myopathy 0 0 4 4 0 8
Familial adenomatous polyposis 1 0 0 7 1 0 8
Alpha-1-antitrypsin deficiency 2 2 2 1 0 7
Congenital aneurysm of ascending aorta 0 0 5 2 0 7
Gorlin syndrome 0 1 5 1 0 7
Pheochromocytoma 0 0 4 3 0 7
Acute intermittent porphyria 0 1 3 2 0 6
Ehlers-Danlos syndrome, type 4 0 0 3 3 0 6
Familial multiple polyposis syndrome 0 0 4 2 0 6
Haemorrhagic telangiectasia 1 1 0 4 1 0 6
Hereditary antithrombin deficiency 0 0 4 2 0 6
Ovarian cancer 1 0 5 0 0 6
Polyp of colon 0 1 5 0 0 6
Familial isolated arrhythmogenic right ventricular dysplasia 0 0 3 2 0 5
Hypertrophic cardiomyopathy 0 2 2 1 0 5
Li-Fraumeni syndrome 1 0 1 3 0 5
Medullary thyroid carcinoma 0 0 4 1 0 5
Von Hippel-Lindau syndrome 0 0 2 3 0 5
Atrial fibrillation 0 0 4 0 0 4
Haemorrhagic telangiectasia 2 0 1 1 2 0 4
Long QT syndrome 2 0 0 4 0 0 4
Wilson disease 1 0 3 0 0 4
Aortic aneurysm, familial thoracic 6 0 0 0 3 0 3
Birt-Hogg-Dube syndrome 0 0 3 0 0 3
Central core myopathy 0 0 2 1 0 3
Fabry disease 0 0 2 1 0 3
Hereditary diffuse gastric adenocarcinoma 1 0 2 0 0 3
Increased left ventricular wall thickness 0 0 3 0 0 3
Neoplasm of stomach 0 2 1 0 0 3
Oligodontia; Colorectal cancer 1 0 1 1 0 3
Peutz-Jeghers syndrome 0 0 3 0 0 3
Polymorphic ventricular tachycardia 0 0 3 0 0 3
SUDDEN INFANT DEATH SYNDROME 0 1 2 0 0 3
Aortic aneurysm 0 0 2 0 0 2
Aortic aneurysm, familial thoracic 4 0 0 1 1 0 2
Arrhythmogenic right ventricular dysplasia 1 0 0 1 1 0 2
Axial myopathy, late-onset 0 0 1 1 0 2
Becker muscular dystrophy 0 1 1 0 0 2
Bloom syndrome 0 0 2 0 0 2
Brugada syndrome (shorter-than-normal QT interval) 0 0 1 1 0 2
Brugada syndrome, lidocaine-induced 0 0 1 1 0 2
Cardiac arrhythmia 0 1 1 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 1 0 2
Colon cancer 0 0 1 1 0 2
Colorectal / endometrial cancer 0 0 1 1 0 2
Cystinuria 0 1 1 0 0 2
Endometrial carcinoma 1 0 0 1 0 2
Familial adenomatous polyposis 2 1 0 1 0 0 2
Familial partial lipodystrophy, Dunnigan type 1 0 1 0 0 2
Fumarase deficiency 0 0 0 2 0 2
Gastrointestinal polyposis 0 0 0 2 0 2
Gastrointestinal stromal tumor, familial 0 0 2 0 0 2
Hypercholesterolemia, familial, 1 0 0 2 0 0 2
Hyperparathyroidism 0 0 1 1 0 2
Hyperparathyroidism 2 with jaw tumors 0 0 0 2 0 2
Loeys-Dietz syndrome 1 0 0 2 0 0 2
Long QT syndrome, drug-associated 0 0 1 1 0 2
Malignant hyperthermia and exertional rhabdomyolosis 0 0 1 1 0 2
Malignant tumor of breast 0 0 2 0 0 2
Malignant tumor of prostate 0 0 1 1 0 2
Mismatch repair cancer syndrome 1 2 0 0 0 0 2
Multiminicore myopathy 0 0 2 0 0 2
Myopathy, RYR1-associated 0 0 2 0 0 2
Myotonic dystrophy 0 0 1 1 0 2
Ornithine carbamoyltransferase deficiency 0 0 2 0 0 2
Papillary renal cell carcinoma type 1 0 0 2 0 0 2
Phenylketonuria 0 0 0 2 0 2
Piebaldism 0 0 2 0 0 2
Telangiectasia, hereditary hemorrhagic, type 1 0 0 2 0 0 2
AV junctional rhythm 0 0 1 0 0 1
Adenocarcinoma 0 1 0 0 0 1
Altered myosin contractile function 0 0 0 1 0 1
Andersen Tawil syndrome 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 0 1 0 0 1
Astrocytoma 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2F 0 0 0 1 0 1
Breast and colorectal cancer 1 0 0 0 0 1
Carcinoma of colon 0 0 1 0 0 1
Carcinoma of esophagus 0 0 0 1 0 1
Carcinoma of male breast 0 0 0 1 0 1
Cardiomyopathy 0 1 0 0 0 1
Carney complex 0 0 1 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 1
Colorectal cancer, early onset 0 0 1 0 0 1
Conduction system disorder 0 0 1 0 0 1
Congenital diarrhea 5 with tufting enteropathy 0 0 1 0 0 1
Congenital heart disease 0 0 1 0 0 1
Congenital muscular dystrophy 0 0 0 1 0 1
Congenital myopathy with cores 0 0 1 0 0 1
Cowden syndrome 0 0 0 1 0 1
Cowden syndrome 1 0 0 1 0 0 1
Dopa-responsive dystonia 0 0 1 0 0 1
Early repolarization associated with ventricular fibrillation 0 0 1 0 0 1
Elevated basal serum calcitonin 0 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 0 0 0 1 0 1
Exertional myalgia, muscle stiffness and myoglobinuria 0 0 1 0 0 1
Familial aortic aneurysms 0 0 1 0 0 1
Familial spontaneous pneumothorax 1 0 0 0 0 1
Gaucher disease 0 0 1 0 0 1
Generalized juvenile polyposis/juvenile polyposis coli 0 0 1 0 0 1
Hearing impairment 1 0 0 0 0 1
Hereditary hemorrhagic telangiectasia 0 0 0 1 0 1
Hereditary mixed polyposis syndrome 0 0 1 0 0 1
Hereditary pheochromocytoma-paraganglioma 0 0 1 0 0 1
Holoprosencephaly sequence 0 0 0 1 0 1
Hyperammonemia 0 0 1 0 0 1
Hyperphenylalaninemia 0 0 1 0 0 1
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 0 0 0 1 0 1
Hypokalemic periodic paralysis 0 0 1 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 0 1 0 0 1
Jervell and Lange-Nielsen syndrome 1 0 1 0 0 0 1
Lymphedema 0 0 0 1 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 0 0 1 0 0 1
Malignant hyperthermia equivocal with halotane 0 0 1 0 0 1
Mandibuloacral dysplasia 0 0 1 0 0 1
Marfan syndrome, incomplete 0 0 1 0 0 1
Metabolic disease 0 0 1 0 0 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 1 0 1
Multiminicore/minicore/multicore disease 0 0 0 1 0 1
Multiple endocrine neoplasia, type 1 0 0 0 1 0 1
Multiple endocrine neoplasia, type 2 1 0 0 0 0 1
Muscular dystrophy 0 0 0 1 0 1
Muscular dystrophy and arthrogryposis 0 0 1 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 1
Orofacial cleft 0 0 0 1 0 1
PRKAG2 cardiac syndrome 0 0 0 1 0 1
Paroxysmal familial ventricular fibrillation 0 0 0 1 0 1
Polycythemia 0 0 0 1 0 1
Rhabdomyosarcoma 0 0 1 0 0 1
Sarcoma 1 0 0 0 0 1
Sudden cardiac death 0 0 1 0 0 1
Tuberous sclerosis 2 0 0 0 1 0 1
Tuberous sclerosis and lymphangiomyomatosis 0 0 1 0 0 1

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