ClinVar Miner

Variants in gene AHNAK2

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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 not provided total
0 0 1552 558 106 25 2175

Condition and significance breakdown #

Total conditions: 25
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Condition uncertain significance likely benign benign not provided total
not specified 1544 227 6 0 1777
not provided 10 342 103 2 456
Thyroid cancer, nonmedullary, 1 0 0 0 7 7
AHNAK2-related disorder 0 2 4 0 6
Ovarian serous cystadenocarcinoma 0 0 0 6 6
Clear cell carcinoma of kidney 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 3 3
Abnormality of neuronal migration 0 0 2 0 2
Cholangiocarcinoma 0 0 0 2 2
Gastric cancer 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 2 2
Acute myeloid leukemia 0 0 0 1 1
Cervical cancer 0 0 0 1 1
Colon adenocarcinoma 0 0 0 1 1
Dysmetria 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 1 0 0 1
Enhancement of the C-reflex 1 0 0 0 1
Lung cancer 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 1 1
Melanoma 0 0 0 1 1
Migraine; Hereditary episodic ataxia 1 0 0 0 1
Thymoma 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 1 1
Uveal melanoma 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter uncertain significance likely benign benign not provided total
Ambry Genetics 1544 227 0 0 1771
CeGaT Center for Human Genetics Tuebingen 2 337 88 0 427
Breakthrough Genomics, Breakthrough Genomics 4 4 15 0 23
Dr. Peter K. Rogan Lab, Western University 0 0 0 23 23
GeneDx 0 0 7 0 7
Labcorp Genetics (formerly Invitae), Labcorp 0 4 3 0 7
PreventionGenetics, part of Exact Sciences 0 2 4 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 0 5
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 2
Oasi Research Institute-IRCCS 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 1
New York Genome Center 1 0 0 0 1

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