ClinVar Miner

Variants from Knight Diagnostic Laboratories,Oregon Health and Sciences University

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
67 58 101 0 0 226

Gene and significance breakdown #

Total genes and gene combinations: 148
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
POLE 0 0 7 7
GJB2 4 2 0 6
CACNA1S 0 0 5 5
MYH11, NDE1 0 0 5 5
RYR1 0 0 5 5
ABCA4 2 2 0 4
CEP290 1 3 0 4
CDH1 0 0 3 3
CPT2 1 0 2 3
DSP 0 0 3 3
MSH2 0 0 3 3
MYBPC3 0 0 3 3
MYLK 0 0 3 3
PAH 2 1 0 3
PKP2 0 0 3 3
PMS2 0 0 3 3
TGFB2 0 0 3 3
TSC2 0 0 3 3
TTN 0 0 3 3
ACADVL 1 1 0 2
APC 0 0 2 2
BRCA1 0 0 2 2
BRCA2 1 0 1 2
COL3A1 0 0 2 2
COL7A1 1 1 0 2
CYP21A2, LOC106780800 2 0 0 2
DMD 0 0 2 2
FANCA 0 2 0 2
G6PD 2 0 0 2
GAA 2 0 0 2
GBA, LOC106627981 2 0 0 2
KCNH2 0 0 2 2
LDLR 0 0 2 2
LRPPRC 0 2 0 2
MSH6 0 0 2 2
MUTYH 1 1 0 2
NEB, RIF1 0 2 0 2
POLD1 0 0 2 2
POMT1 1 1 0 2
RYR2 0 0 2 2
SERPINA1 2 0 0 2
SLC3A1 1 1 0 2
SLC7A9 0 2 0 2
TMPRSS3 0 2 0 2
ACADM 1 0 0 1
ACADS 1 0 0 1
ADAMTS13 0 1 0 1
ADGRV1 0 1 0 1
AGA 0 1 0 1
AGXT 1 0 0 1
AIPL1 1 0 0 1
ALG6 1 0 0 1
ALMS1 0 1 0 1
ALOX12B 0 1 0 1
ARHGAP11A-SCG5, SCG5 0 0 1 1
ASL 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 1
BCHE 0 0 1 1
CACNA1C 0 0 1 1
CACNB2 0 0 1 1
CACNB2, NSUN6 0 0 1 1
CASQ2 0 0 1 1
CFTR 1 0 0 1
CHRND 0 1 0 1
CRTAP 0 1 0 1
CSTB 0 1 0 1
CTNS 1 0 0 1
CYP27A1 0 1 0 1
DHCR7 1 0 0 1
DMPK, LOC107075317 0 0 1 1
ENG 0 0 1 1
EPCAM 0 0 1 1
EPM2A 1 0 0 1
ERCC2 0 1 0 1
ERCC6, ERCC6-PGBD3 0 1 0 1
ERP44, INVS 0 1 0 1
EYS 0 1 0 1
F11 0 1 0 1
F5 1 0 0 1
F8 0 1 0 1
FAH 0 0 1 1
FBN1 0 0 1 1
FECH 0 1 0 1
FGA 1 0 0 1
G6PC 1 0 0 1
GALT 1 0 0 1
GAREM2, HADHA 1 0 0 1
GLDC 0 1 0 1
GNE 1 0 0 1
GYS2 0 1 0 1
HADH 0 1 0 1
HBB, LOC106099062, LOC107133510 1 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 1
HEXA 1 0 0 1
HFE 1 0 0 1
HFE, LOC108783645 1 0 0 1
HGD 1 0 0 1
HMBS 0 0 1 1
HYLS1, PUS3 1 0 0 1
IDUA 1 0 0 1
ITGB4 0 1 0 1
KCNQ1 0 0 1 1
KIT 0 0 1 1
LAMA2 0 1 0 1
LAMB3 1 0 0 1
LOC114827850, MYL2 0 0 1 1
MEFV 1 0 0 1
MMACHC 1 0 0 1
MVK 1 0 0 1
MYH11 0 0 1 1
MYH7 0 0 1 1
NAGA 0 1 0 1
NF2 0 0 1 1
OTOA 0 1 0 1
PCBD1 0 0 1 1
PEX7 1 0 0 1
PKHD1 0 1 0 1
PKLR 0 1 0 1
PLG 1 0 0 1
PNPO 0 1 0 1
PREPL, SLC3A1 0 1 0 1
PROM1 0 1 0 1
PUS1 0 1 0 1
PYGM 0 1 0 1
RBM20 0 0 1 1
SACS 0 1 0 1
SAG 1 0 0 1
SDHC 0 0 1 1
SGCA 1 0 0 1
SLC26A4 1 0 0 1
SMAD3 0 0 1 1
SMAD4 0 0 1 1
SMPD1 1 0 0 1
SPG7 1 0 0 1
STRC 0 1 0 1
TBCE 1 0 0 1
TGFBR1 0 0 1 1
TGFBR2 0 0 1 1
TK2 1 0 0 1
TMC1 1 0 0 1
TMEM127 0 0 1 1
TNNT2 0 0 1 1
TPP1 1 0 0 1
TRAPPC2 0 1 0 1
TULP1 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 0 1
USH2A 0 1 0 1
VHL 0 0 1 1

Condition and significance breakdown #

Total conditions: 160
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Condition pathogenic likely pathogenic uncertain significance total
Colorectal cancer, susceptibility to, 12 0 0 7 7
Aortic aneurysm, familial thoracic 4 0 0 6 6
Deafness, autosomal recessive 1A 4 2 0 6
Cystinuria 1 4 0 5
Lynch syndrome I 0 0 5 5
Malignant hyperthermia susceptibility type 5 0 0 5 5
Malignant hyperthermia, susceptibility to, 1 0 0 5 5
Aortic aneurysm, familial thoracic 7 0 0 3 3
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 3 3
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 3 3
Dilated cardiomyopathy 1G 0 0 3 3
Familial hypertrophic cardiomyopathy 4 0 0 3 3
Familial hypertrophic cardiomyopathy 9 0 0 3 3
Hereditary diffuse gastric cancer 0 0 3 3
Hereditary nonpolyposis colorectal cancer type 4 0 0 3 3
Joubert syndrome 5 1 2 0 3
Left ventricular noncompaction 10 0 0 3 3
Loeys-Dietz syndrome 4 0 0 3 3
Phenylketonuria 2 1 0 3
Tuberous sclerosis 2 0 0 3 3
Alpha-1-antitrypsin deficiency 2 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 2
Arrhythmogenic right ventricular dysplasia, familial, 2 0 0 2 2
Becker muscular dystrophy 0 0 2 2
Breast-ovarian cancer, familial 1 0 0 2 2
Carnitine palmitoyltransferase II deficiency, infantile 0 0 2 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 2
Colorectal cancer 10 0 0 2 2
Deafness, autosomal recessive 8 0 2 0 2
Dilated cardiomyopathy 3B 0 0 2 2
Duchenne muscular dystrophy 0 0 2 2
Ehlers-Danlos syndrome, type 4 0 0 2 2
Familial adenomatous polyposis 1 0 0 2 2
Familial hypercholesterolemia 0 0 2 2
Fanconi anemia, complementation group A 0 2 0 2
Gaucher's disease, type 1 2 0 0 2
Glycogen storage disease, type II 2 0 0 2
Hemochromatosis type 1 2 0 0 2
Leigh syndrome, French Canadian type 0 2 0 2
Long QT syndrome 2 0 0 2 2
MYH-associated polyposis 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 1 1 0 2
Nemaline myopathy 2 0 2 0 2
Recessive dystrophic epidermolysis bullosa 1 1 0 2
Short QT Syndrome 5 0 0 2 2
Short QT syndrome 1 0 0 2 2
Very long chain acyl-CoA dehydrogenase deficiency 1 1 0 2
beta Thalassemia 2 0 0 2
Acute intermittent porphyria 0 0 1 1
Afibrinogenemia, congenital 1 0 0 1
Aicardi Goutieres syndrome 1 1 0 0 1
Alkaptonuria 1 0 0 1
Alstrom syndrome 0 1 0 1
Argininosuccinate lyase deficiency 1 0 0 1
Aspartylglucosaminuria 0 1 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 1
Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5 0 1 0 1
Breast-ovarian cancer, familial 2 0 0 1 1
Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1 1 0 0 1
Carnitine palmitoyltransferase II deficiency, lethal neonatal 1 0 0 1
Ceroid lipofuscinosis neuronal 2 1 0 0 1
Cholestanol storage disease 0 1 0 1
Cockayne syndrome B 0 1 0 1
Cone-rod dystrophy 3 0 1 0 1
Cone-rod dystrophy 3; Stargardt disease 1 0 1 0 1
Congenital disorder of glycosylation type 1C 1 0 0 1
Cystic fibrosis 1 0 0 1
Deafness, autosomal recessive 16 0 1 0 1
Deafness, autosomal recessive 22 0 1 0 1
Deafness, autosomal recessive 7 1 0 0 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 0 1 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 1
Dilated cardiomyopathy 1DD 0 0 1 1
Dilated cardiomyopathy 1S 0 0 1 1
Dysostosis multiplex 1 0 0 1
Epidermolysis bullosa junctionalis with pyloric atresia 0 1 0 1
Erythropoietic protoporphyria 0 1 0 1
FRAXE 1 0 0 1
Familial Mediterranean fever 1 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 1 1
Familial hypertrophic cardiomyopathy 10 0 0 1 1
Familial hypertrophic cardiomyopathy 2 0 0 1 1
GNE myopathy 1 0 0 1
Gastrointestinal stroma tumor 0 0 1 1
Gilbert's syndrome 0 1 0 1
Glycogen storage disease type 1A 1 0 0 1
Glycogen storage disease, type V 0 1 0 1
Hereditary Mixed Polyposis 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 1 1
Hereditary factor VIII deficiency disease 0 1 0 1
Hereditary factor XI deficiency disease 0 1 0 1
Hereditary nonpolyposis colorectal cancer type 8 0 0 1 1
Homocystinuria due to CBS deficiency 0 1 0 1
Hydrolethalus syndrome 1 1 0 0 1
Hyperimmunoglobulin D with periodic fever 1 0 0 1
Hyperphenylalaninemia, BH4-deficient, D 0 0 1 1
Hypoglycemia with deficiency of glycogen synthetase in the liver 0 1 0 1
Hypoparathyroidism retardation dysmorphism syndrome 1 0 0 1
Infantile nephronophthisis 0 1 0 1
Junctional epidermolysis bullosa gravis of Herlitz 1 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 1 1
Lafora disease 1 0 0 1
Leber congenital amaurosis 15 1 0 0 1
Leber congenital amaurosis 4 1 0 0 1
Left ventricular noncompaction 6 0 0 1 1
Lethal multiple pterygium syndrome 0 1 0 1
Limb-girdle muscular dystrophy, type 2D 1 0 0 1
Loeys-Dietz syndrome 0 0 1 1
Loeys-Dietz syndrome 1 0 0 1 1
Loeys-Dietz syndrome 3 0 0 1 1
Long QT syndrome 1 0 0 1 1
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 1
Lynch syndrome 0 0 1 1
Mandibulofacial dysostosis with mental deficiency 1 0 0 1
Marfan syndrome 0 0 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 1
Methylmalonic acidemia with homocystinuria 1 0 0 1
Mitochondrial DNA depletion syndrome 2 1 0 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 1 0 1
Nephropathic cystinosis 1 0 0 1
Neurofibromatosis, type 2 0 0 1 1
Niemann-Pick disease, type A 1 0 0 1
Non-ketotic hyperglycinemia 0 1 0 1
Oguchi's disease 1 0 0 1
Osler hemorrhagic telangiectasia syndrome 0 0 1 1
Osteogenesis imperfecta type 7 0 1 0 1
Pendred syndrome 1 0 0 1
Peroxisome biogenesis disorder 9B 1 0 0 1
Pheochromocytoma, susceptibility to 0 0 1 1
Plasminogen deficiency, type I 1 0 0 1
Primary hyperoxaluria, type I 1 0 0 1
Pyridoxal 5'-phosphate-dependent epilepsy 0 1 0 1
Pyruvate kinase deficiency of red cells 0 1 0 1
Retinitis pigmentosa 14 1 0 0 1
Retinitis pigmentosa 25 0 1 0 1
Retinitis pigmentosa 41 0 1 0 1
Rhizomelic chondrodysplasia punctata type 1 1 0 0 1
Schindler disease, type 1 0 1 0 1
Short QT Syndrome 4 0 0 1 1
Short QT syndrome 2 0 0 1 1
Smith-Lemli-Opitz syndrome 1 0 0 1
Spastic ataxia Charlevoix-Saguenay type 0 1 0 1
Spastic paraplegia 7 1 0 0 1
Spondyloepiphyseal dysplasia tarda 0 1 0 1
Stargardt disease 1 1 0 0 1
Steinert myotonic dystrophy syndrome 0 0 1 1
Suxamethonium sensitivity 0 0 1 1
Tay-Sachs disease 1 0 0 1
Thrombophilia due to activated protein C resistance 1 0 0 1
Trichothiodystrophy 1, photosensitive 0 1 0 1
Tyrosinemia type I 0 0 1 1
Unverricht-Lundborg syndrome 0 1 0 1
Upshaw-Schulman syndrome 0 1 0 1
Usher syndrome, type 2A 0 1 0 1
Usher syndrome, type 2C 0 1 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 1 1
Von Hippel-Lindau syndrome 0 0 1 1
Xeroderma pigmentosum, group D 0 1 0 1

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