ClinVar Miner

Variants in gene GDAP1

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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
71 47 299 112 45 7 494

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4A 60 19 149 74 4 1 292
not provided 19 16 39 31 29 0 125
Charcot-Marie-Tooth disease recessive intermediate A 9 1 64 7 16 0 97
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2 1 60 8 16 1 88
Charcot-Marie-Tooth disease 5 3 57 9 4 6 76
Charcot-Marie-Tooth disease axonal type 2K 14 4 53 1 1 1 63
Inborn genetic diseases 3 1 28 10 0 0 42
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 6 1 3 0 0 1 11
not specified 0 0 7 2 2 0 10
Charcot-Marie-Tooth with Vocal Cord Paresis 0 0 7 2 0 0 9
Charcot-Marie-Tooth, Intermediate 0 0 7 2 0 0 9
GDAP1-related condition 1 1 1 2 0 0 5
Peripheral neuropathy 1 3 0 0 0 0 4
Autosomal dominant Charcot-Marie-Tooth disease type 2K 0 0 3 0 0 0 3
Charcot-Marie-Tooth disease, type I 0 0 2 0 0 0 2
Neuropathy, axonal, with vocal cord paresis, autosomal recessive 2 0 0 0 0 0 2
Tip-toe gait 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A 0 0 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 1 1
Elevated circulating creatine kinase concentration; Sensory neuropathy; Polyneuropathy; Elevated circulating alkaline phosphatase concentration; Peripheral axonal neuropathy 1 0 0 0 0 0 1
GDAP1-Related Disorders 1 0 0 0 0 0 1
Pes cavus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 13 127 74 3 0 274
Illumina Laboratory Services, Illumina 1 0 68 10 15 0 93
GeneDx 10 7 14 30 28 0 89
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 66 0 0 0 66
Inherited Neuropathy Consortium 3 2 48 0 0 0 53
Ambry Genetics 3 1 28 10 0 0 42
CeGaT Center for Human Genetics Tuebingen 7 3 14 3 0 0 27
Molecular Genetics Laboratory, London Health Sciences Centre 2 1 6 9 4 0 22
OMIM 18 0 0 0 0 0 18
Athena Diagnostics Inc 5 1 6 1 1 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 6 0 0 0 11
Fulgent Genetics, Fulgent Genetics 6 1 3 0 0 0 10
Genesis Genome Database 0 0 10 0 0 0 10
MGZ Medical Genetics Center 4 2 3 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 2 0 7 0 0 0 9
Revvity Omics, Revvity 2 2 4 0 0 0 8
3billion 3 2 2 0 0 0 7
PreventionGenetics, part of Exact Sciences 1 1 1 2 1 0 6
GeneReviews 0 0 0 0 0 6 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 2 1 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 1 3 1 0 0 0 5
Clinical Genetics, Academic Medical Center 3 0 0 0 1 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 1 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 3 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Institute of Human Genetics, Cologne University 3 0 0 0 0 0 3
Mendelics 1 1 1 0 0 0 3
CMT Laboratory, Bogazici University 3 0 0 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 0 1
Clinical Genetics and Genomics, 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
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Neurology Department, Peking University First Hospital 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Suma Genomics 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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