ClinVar Miner

Variants from CSER_CC_NCGL; University of Washington Medical Center

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 52 527 188 6 810

Gene and significance breakdown #

Total genes and gene combinations: 111
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR1 4 1 32 17 0 54
MYBPC3 3 5 36 5 0 49
BRCA1 4 2 18 15 0 39
BRCA2 3 1 12 20 2 37
LDLR 3 7 21 5 0 36
SCN5A 0 2 24 8 0 34
APC 0 0 21 7 0 27
FBN1 0 0 14 6 1 21
MYH7 0 4 17 0 0 21
MSH2 0 1 14 4 1 20
RET 1 0 12 5 0 18
TSC2 0 0 13 4 1 18
KCNQ1 1 1 12 3 0 17
KCNH2 0 0 14 2 0 16
MSH6 1 1 10 3 0 15
DSP 0 1 7 5 0 13
LMNA 1 0 10 2 0 13
PROS1 0 1 11 1 0 13
RYR2 0 0 11 1 0 12
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
PTCH1 0 1 5 2 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
SERPINA1 2 2 2 1 0 7
CACNB2 0 0 5 1 0 6
HMBS 0 1 3 2 0 6
KCNE2 0 1 5 0 0 6
POLE 0 0 5 1 0 6
SERPINC1 0 0 4 2 0 6
ACVRL1 0 1 1 3 0 5
CACNA1C 0 0 3 2 0 5
CACNB2, NSUN6 0 0 5 0 0 5
MLH3 0 0 4 1 0 5
MYH11, NDE1 0 0 3 2 0 5
MYLK 0 0 3 2 0 5
SDHB 0 0 4 1 0 5
TNNT2 0 2 3 0 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
MYH11 0 0 2 2 0 4
MYL3 0 1 3 0 0 4
RBM20 0 0 2 2 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
MHRT, MYH7 0 0 3 0 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
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
GALNT12 0 0 1 0 0 1
GBA, 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
LOC100507346, PTCH1 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
MET 0 0 0 1 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: 161
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary familial hypertrophic cardiomyopathy 3 10 57 5 0 75
Long QT syndrome 1 1 47 9 0 58
Neoplasm of the breast 5 0 14 26 0 45
Arrhythmogenic right ventricular cardiomyopathy 0 5 28 7 0 40
Hypercholesterolaemia 4 7 21 5 0 37
Colorectal cancer 0 0 25 2 0 27
Colorectal cancer, non-polyposis 1 0 17 6 0 24
Primary dilated cardiomyopathy 0 0 17 6 1 24
Malignant hyperthermia, susceptibility to, 1 4 1 11 7 0 23
Marfan syndrome 0 0 14 6 1 21
Hereditary breast and ovarian cancer syndrome 1 3 8 3 2 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
Malignant hyperthermia 0 0 11 3 0 14
Colorectal adenoma 0 0 9 4 0 13
Protein S deficiency 0 1 11 1 0 13
Breast and/or ovarian cancer 0 0 8 4 0 12
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 1 2 8 0 0 11
Hirschsprung disease 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
Gorlin syndrome 0 1 5 1 0 7
Pheochromocytoma 0 0 4 3 0 7
Acute intermittent porphyria 0 1 3 2 0 6
Antithrombin deficiency 0 0 4 2 0 6
Colon polyps 0 1 5 0 0 6
Ehlers-Danlos syndrome, type 4 0 0 3 3 0 6
Haemorrhagic telangiectasia 1 1 0 4 1 0 6
Medullary thyroid carcinoma 0 0 4 2 0 6
Ovarian cancer 1 0 5 0 0 6
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 3 2 0 5
Familial thoracic aortic aneurysm 0 0 4 1 0 5
Hypertrophic cardiomyopathy 0 2 2 1 0 5
Li-Fraumeni syndrome 1 0 1 3 0 5
Von Hippel-Lindau syndrome 0 0 2 3 0 5
Atrial fibrillation 0 0 4 0 0 4
Familial adenomatous polyposis 0 0 2 2 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
Dilated cardiomyopathy 0 1 1 1 0 3
Fabry disease 0 0 2 1 0 3
Hereditary diffuse gastric cancer 1 0 2 0 0 3
Hypercholesterolemia 0 0 1 2 0 3
Increased left ventricular wall thickness 0 0 3 0 0 3
Malignant hyperthermia susceptibility 0 0 2 1 0 3
Myopathy, Central Core 0 0 2 1 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
SUDDEN INFANT DEATH SYNDROME 0 1 2 0 0 3
Ventricular tachycardia, polymorphic 0 0 3 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, familial 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 type 1 0 0 1 1 0 2
Colon cancer 0 0 1 1 0 2
Colorectal / endometrial cancer 0 0 1 1 0 2
Congenital aneurysm of ascending aorta 0 0 1 1 0 2
Cystinuria 0 1 1 0 0 2
Endometrial carcinoma 1 0 0 1 0 2
Familial hypercholesterolemia 0 0 2 0 0 2
Familial multiple polyposis syndrome 0 0 2 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
Hyperparathyroidism 0 0 1 1 0 2
Hyperparathyroidism 2 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 prostate 0 0 1 1 0 2
Multiminicore Disease 0 0 2 0 0 2
Multiple fibrofolliculomas 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
Osler hemorrhagic telangiectasia syndrome 0 0 2 0 0 2
Partial lipodystrophy, Dunnigan 1 0 1 0 0 2
Phenylketonuria 0 0 0 2 0 2
Piebaldism 0 0 2 0 0 2
Renal cell carcinoma, papillary, 1 0 0 2 0 0 2
Turcot syndrome 2 0 0 0 0 2
breast cancer 0 0 2 0 0 2
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
Astrocytoma 0 0 1 0 0 1
Birt-Hogg-Dub syndrome 0 0 1 0 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
Cardiac conduction defect, nonspecific 0 0 1 0 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
Congenital heart disease 0 0 1 0 0 1
Congenital muscular dystrophy 0 0 0 1 0 1
Cowden syndrome 0 0 0 1 0 1
Cowden syndrome 1 0 0 1 0 0 1
Diarrhea 5, with tufting enteropathy, congenital 0 0 1 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma 0 0 1 0 0 1
Dystonia, dopa-responsive 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
Gaucher disease 0 0 1 0 0 1
Hearing impairment 1 0 0 0 0 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 1 0 0 1
Hereditary hemorrhagic telangiectasia 0 0 0 1 0 1
Hereditary mixed polyposis syndrome 0 0 1 0 0 1
Holoprosencephaly sequence 0 0 0 1 0 1
Hyperammonemia 0 0 1 0 0 1
Hyperphenylalaninaemia 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 resistance syndrome, type A 0 0 1 0 0 1
Jervell and Lange-Nielsen syndrome 1 0 1 0 0 0 1
Juvenile polyposis syndrome 0 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2F 0 0 0 1 0 1
Lymphoedema 0 0 0 1 0 1
MUTYH-associated polyposis 1 0 0 0 0 1
MYH-associated polyposis 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
Multiple endocrine neoplasia, type 2a 0 0 1 0 0 1
Muscular dystrophy 0 0 0 1 0 1
Muscular dystrophy and arthrogryposis 0 0 1 0 0 1
Myopathy, congenital with cores 0 0 1 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 1
Nodal rhythm 0 0 1 0 0 1
Orofacial clefting 0 0 0 1 0 1
PRKAG2 cardiac syndrome 0 0 0 1 0 1
Pneumothorax, primary spontaneous 1 0 0 0 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
Ventricular fibrillation, idiopathic 0 0 0 1 0 1

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