ClinVar Miner

Variants in gene PKD1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 other not provided total
445 198 579 325 256 4 9 1648

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Polycystic kidney disease, adult type 210 69 180 66 151 4 6 664
not provided 166 111 220 49 68 0 3 599
Polycystic kidney disease 109 16 131 151 96 0 0 503
not specified 11 0 73 94 125 0 0 292
Autosomal dominant polycystic kidney disease 12 10 18 22 64 0 0 126
Inborn genetic diseases 4 1 5 0 0 0 0 10
Autosomal recessive polycystic kidney disease 3 1 2 0 0 0 0 6
Polycystic kidney disease 3 1 4 1 0 0 0 0 6
Bile duct cancer 0 0 1 2 1 0 0 4
Chronic kidney disease 0 0 2 0 0 0 0 2
Clubfoot; Polycystic kidney disease; Narrow chest; Hyperechogenic kidneys 0 0 2 0 0 0 0 2
Elevated serum creatine phosphokinase; Polycystic kidney disease; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness 0 1 0 0 0 0 0 1
Hepatic cysts; Pancreatic cysts; Multiple renal cysts 0 1 0 0 0 0 0 1
Multiple renal cysts; Hypertensive disorder 1 0 0 0 0 0 0 1
Polycystic kidney disease; Abnormality of the kidney; Multicystic kidney dysplasia 0 1 0 0 0 0 0 1
Polycystic kidney disease; Hemangioma; Enlarged kidney 0 1 0 0 0 0 0 1
Polycystic kidney disease; Hypertensive disorder 1 0 0 0 0 0 0 1
Polycystic kidney disease; Moderate sensorineural hearing impairment; 3-4 toe syndactyly 0 1 0 0 0 0 0 1
Polycystic kidney disease; Renal insufficiency 0 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease 1 0 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia; Cystic renal dysplasia 1 0 0 0 0 0 0 1
Proteinuria; Renal cyst 0 0 1 0 0 0 0 1
Renal cyst; Hepatic cysts; Pancreatic cysts; Renovascular hypertension; Hypertensive disorder 0 1 0 0 0 0 0 1
Renal insufficiency 0 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 0 1
Seizures; Hemivertebrae; Polycystic kidney disease; Secundum atrial septal defect; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular gray matter heterotopia; Plantar crease between first and second toes; Overlapping fingers 0 0 1 0 0 0 0 1
Stage 5 chronic kidney disease; Hepatic cysts; Dilatation of the cerebral artery 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Department of Pathology and Laboratory Medicine,Sinai Health System 110 16 161 160 108 0 0 555
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 50 16 91 79 166 0 0 402
Athena Diagnostics Inc 65 22 127 34 129 0 0 377
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 29 25 36 20 62 0 0 172
PreventionGenetics, PreventionGenetics 0 1 1 74 71 0 0 146
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 30 21 38 0 0 0 0 89
Blueprint Genetics 17 31 34 0 0 0 0 82
Cavalleri Lab, Royal College of Surgeons in Ireland 54 8 19 0 0 0 0 81
Gharavi Laboratory,Columbia University 41 21 13 1 0 0 0 76
Molecular Biology Laboratory, Fundació Puigvert 40 18 0 0 0 4 0 62
GeneDx 18 7 27 5 0 0 0 57
Centre for Mendelian Genomics,University Medical Centre Ljubljana 15 8 19 1 0 0 0 43
CeGaT Praxis fuer Humangenetik Tuebingen 13 5 14 6 0 0 0 38
Mendelics 9 2 9 4 3 0 0 27
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 13 1 11 0 0 0 0 25
Baylor Genetics 3 1 14 0 0 0 0 18
Institute of Human Genetics,Cologne University 5 5 6 0 0 0 0 16
OMIM 13 0 0 0 0 0 0 13
Ambry Genetics 4 1 5 0 0 0 0 10
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 5 0 4 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 6 0 3 0 0 0 0 9
Centre for Genetic Disorders, Banaras Hindu University 8 0 0 0 0 0 1 9
Institute of Human Genetics, University of Leipzig Medical Center 3 3 2 1 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 1 0 7 1 0 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 5 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 4 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 4 0 0 0 0 0 5
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 2 2 0 0 0 0 0 4
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 0 0 0 3 3
Department of Plant Molecular and Cellular Biology Adam Mickiewicz University 0 0 0 0 0 0 3 3
Institute of Human Genetics,University of Wuerzburg 1 1 1 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 1 2 0 0 0 0 3
Arkana Molecular Diagnostic Laboratory,Arkana Laboratories 2 0 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 0 0 0 0 0 0 1
Department of Urology,The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 0 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 0 1
Swedish Neurofibromatosis Center,Swedish Medical Center 0 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1

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