ClinVar Miner

Variants in gene ALPK3

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

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 not provided total
211 111 1928 1144 112 22 3230

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 171 49 1575 786 92 0 2612
Cardiovascular phenotype 61 24 895 595 37 0 1607
not specified 0 0 58 123 60 0 206
Cardiomyopathy, familial hypertrophic 27 36 39 56 22 16 1 167
ALPK3-related disorder 3 2 9 47 26 0 87
Hypertrophic cardiomyopathy 0 7 5 0 0 0 12
Cardiomyopathy 6 3 1 0 0 0 10
Lung cancer 0 0 0 0 0 6 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Neurodevelopmental disorder 2 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Abnormality of the cardiovascular system 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 12 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 0 1 1
Primary familial hypertrophic cardiomyopathy 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
pediatric-onset cardiomyopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 169 27 1522 721 65 0 2504
Ambry Genetics 60 21 883 595 37 0 1596
GeneDx 10 19 252 111 61 0 453
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 1 57 57 18 0 140
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 3 26 64 24 0 119
PreventionGenetics, part of Exact Sciences 2 2 9 47 26 0 86
Mayo Clinic Laboratories, Mayo Clinic 0 0 31 17 32 0 80
Breakthrough Genomics, Breakthrough Genomics 0 0 5 19 41 0 65
Clinical Genetics, Academic Medical Center 2 0 10 1 44 0 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 15 22 16 0 56
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 8 21 23 0 53
CeGaT Center for Human Genetics Tuebingen 3 0 10 19 0 0 32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 2 17 0 0 0 28
3billion 12 10 0 0 0 0 22
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 20 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 7 5 1 0 15
Clinical Genomics Laboratory, Stanford Medicine 0 1 12 0 0 0 13
Revvity Omics, Revvity 1 1 11 0 0 0 13
OMIM 8 0 0 0 0 0 8
Baylor Genetics 3 0 4 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 3 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 2 0 7
Blueprint Genetics 0 2 4 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 1 0 0 0 5
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 1 4 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 1 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 3 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 0 2 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 2 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Caglayan Lab, Istanbul Bilim University 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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