ClinVar Miner

Variants in gene FKRP

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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 not provided total
152 153 506 454 23 3 1118

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Walker-Warburg congenital muscular dystrophy 124 34 333 390 13 0 894
Cardiovascular phenotype 15 9 169 141 10 0 342
not provided 33 21 163 38 14 1 242
Autosomal recessive limb-girdle muscular dystrophy type 2I 24 42 131 17 9 0 208
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 32 50 9 1 3 0 93
not specified 0 0 36 46 18 0 83
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 4 5 50 6 2 0 67
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 5 23 10 0 0 1 36
Muscular dystrophy-dystroglycanopathy type B5 7 2 9 1 3 0 22
Autosomal recessive limb-girdle muscular dystrophy 13 7 0 0 0 0 20
FKRP-related disorder 1 1 1 15 0 1 19
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 4 0 0 0 0 0 4
Abnormality of the musculature 0 3 0 0 0 0 3
Limb-girdle muscular dystrophy 1 0 1 0 0 0 2
Muscular dystrophy-dystroglycanopathy 1 1 0 0 0 0 2
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Dystrophin deficiency 0 0 0 0 1 0 1
FKRP-related muscular dystrophy-dystroglycanopathy 1 0 0 0 0 0 1
Muscle weakness; Headache; Gait imbalance; Difficulty walking; Paresthesia; Difficulty climbing stairs; Scapular winging; Difficulty standing 1 0 0 0 0 0 1
Muscular dystrophy 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 0 1 0 0 0 1
Myopathy 0 1 0 0 0 0 1
Myopathy caused by variation in FKRP 1 0 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 2B 1 0 0 0 0 0 1
Nizon-Isidor syndrome 1 0 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 124 34 333 391 13 0 895
Ambry Genetics 15 7 168 141 10 0 341
Natera, Inc. 9 3 102 9 8 0 131
GeneDx 8 8 55 47 12 0 130
Eurofins Ntd Llc (ga) 20 4 82 3 11 0 120
Fulgent Genetics, Fulgent Genetics 7 24 50 6 2 0 87
Baylor Genetics 30 48 2 0 0 0 80
Revvity Omics, Revvity 9 8 52 3 0 0 72
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 7 23 17 4 0 64
Counsyl 5 30 22 6 0 0 63
Athena Diagnostics 3 1 17 4 10 0 35
CeGaT Center for Human Genetics Tuebingen 8 1 10 11 2 0 32
PreventionGenetics, part of Exact Sciences 1 1 0 19 9 0 30
Genetic Services Laboratory, University of Chicago 2 1 14 7 5 0 29
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 2 9 9 0 22
OMIM 19 0 0 0 0 0 19
Mayo Clinic Laboratories, Mayo Clinic 3 1 15 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 3 5 0 14
Clinical Genetics, Academic Medical Center 1 0 0 0 10 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 5 4 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 7 0 10
Genome-Nilou Lab 1 0 3 1 3 0 8
Kariminejad - Najmabadi Pathology & Genetics Center 0 5 2 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 4 0 0 0 6
MGZ Medical Genetics Center 1 3 1 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 0 2 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 1 0 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 1 1 2 0 0 0 4
3billion 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 2 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 1 0 2 0 0 0 3
Phosphorus, Inc. 0 0 1 0 2 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
Center for Genetic Medicine Research, Children's National Medical Center 0 1 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 0 2 0 2
New York Genome Center 0 1 1 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Inheritance Genetic Center 1 0 0 0 0 0 1

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