ClinVar Miner

Variants in gene FKRP

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Minimum submission review status: Collection method:
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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
68 49 272 131 18 1 475

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Walker-Warburg congenital muscular dystrophy 38 8 186 86 11 0 329
not provided 28 9 97 27 6 0 157
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 18 33 52 9 8 0 113
not specified 0 0 15 41 15 0 59
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 6 0 5 0 0 0 11
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 5 2 4 0 0 0 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 1 2 5 0 0 0 8
none provided 0 0 1 1 4 0 6
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 1 0 1 0 2 0 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 4 0 0 0 0 0 4
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 Disorder 0 0 0 0 0 1 1
Fukuyama congenital muscular dystrophy 1 0 0 0 0 0 1
Limb-girdle muscular dystrophy 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
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: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 8 186 97 12 0 341
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 20 4 82 3 11 0 120
GeneDx 4 3 12 41 8 0 68
Counsyl 5 30 22 6 0 0 63
Natera, Inc. 5 0 29 3 7 0 44
Athena Diagnostics Inc 3 1 12 4 8 0 28
Genetic Services Laboratory, University of Chicago 2 1 12 5 4 0 24
OMIM 19 0 0 0 0 0 19
PreventionGenetics, PreventionGenetics 0 0 0 4 9 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 3 5 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 7 0 3 2 0 0 12
Fulgent Genetics,Fulgent Genetics 1 2 5 0 0 0 8
Baylor Genetics 3 0 3 0 0 0 6
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 2 0 3
Phosphorus, Inc. 0 0 1 0 2 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 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
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GeniaGeo, Laboratorio Genia 1 0 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
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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