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
49 43 167 99 17 1 324

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 22 7 95 64 12 0 183
Walker-Warburg congenital muscular dystrophy 19 3 79 4 3 0 108
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 16 33 24 6 3 0 77
not specified 0 0 13 41 15 0 58
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
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 3 1 1 0 0 0 5
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5 4 0 0 0 0 0 4
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 4 0 0 0 0 0 4
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 0 0 2 0 3
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 0 0 2 0 0 0 2
Muscular dystrophy-dystroglycanopathy 1 1 0 0 0 0 2
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy; Dilated cardiomyopathy 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

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 3 79 62 12 0 175
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 20 4 82 3 11 0 120
GeneDx 4 2 12 41 8 0 67
Counsyl 6 30 22 6 0 0 64
Genetic Services Laboratory, University of Chicago 2 1 12 5 4 0 24
Athena Diagnostics Inc 3 1 8 3 8 0 23
OMIM 19 0 0 0 0 0 19
PreventionGenetics,PreventionGenetics 0 0 0 4 9 0 13
Fulgent Genetics,Fulgent Genetics 1 2 5 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 2 3 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 4 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 2 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Phosphorus, Inc. 0 0 1 0 2 0 3
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
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
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 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

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