ClinVar Miner

Variants studied for axonal hereditary motor and sensory neuropathy

Included ClinVar conditions (70):
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 risk factor not provided total
237 79 1131 380 242 3 12 2062

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DYNC1H1 3 5 225 144 67 0 0 441
IGHMBP2 27 13 148 37 29 0 0 249
TRPV4 11 4 116 29 29 0 1 188
LRSAM1 14 7 101 28 15 0 2 163
DNM2 7 5 99 30 19 0 0 160
MORC2 3 2 94 20 12 0 1 130
NEFL 12 1 64 15 10 0 0 102
SLC25A46 12 3 43 10 6 0 0 74
TRIM2 5 1 44 17 3 0 0 69
MARS1 2 0 38 15 12 0 0 67
HSPB1 12 6 33 9 5 0 0 64
TFG 2 0 34 6 10 0 1 53
HSPB8 2 0 24 6 4 0 1 37
MFN2 24 11 1 0 0 0 0 35
HINT1 9 3 9 1 2 0 0 24
NAGLU 6 3 12 1 3 0 0 24
GDAP1 14 0 1 0 1 0 0 16
MPZ 10 2 1 0 2 0 1 16
GARS1 5 1 3 0 4 0 1 14
MME 5 2 3 0 0 3 0 13
RAB7A 4 0 1 5 3 0 0 13
SPG11 8 0 5 0 0 0 0 13
LMNA 4 0 4 0 2 0 2 12
OPA1 8 1 3 0 0 0 0 12
AARS1 2 1 2 4 2 0 1 11
ATP1A3 6 3 2 0 0 0 0 11
HARS1 5 2 3 0 0 0 0 10
DHTKD1 1 2 2 0 0 0 1 6
ATP1A1 5 0 0 0 0 0 0 5
MED25 1 0 2 0 1 0 0 4
ARHGAP9, MARS1 0 0 1 2 0 0 0 3
KIF1B 1 0 2 0 0 0 0 3
LOC112872299, RAB7A 0 0 3 0 0 0 0 3
DNM2, MIR638 0 0 2 0 0 0 0 2
MARS1, MIR6758 0 0 1 1 0 0 0 2
NEFH 2 0 0 0 0 0 0 2
VCP 2 0 0 0 0 0 0 2
ACAD9, KIAA1257, LOC112872299, MIR12124, RAB7A 0 0 1 0 0 0 0 1
DCAF8 1 0 0 0 0 0 0 1
DNAJB2 1 0 0 0 0 0 0 1
DNM2, MIR4748, MIR638 0 0 1 0 0 0 0 1
DNM2, MIR6793 0 0 0 0 1 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 0 1
ELOC, GDAP1, JPH1, LINC01617, LY96, TMEM70, UBE2W 0 0 1 0 0 0 0 1
PMP22 1 0 0 0 0 0 0 1
SCYL1 0 1 0 0 0 0 0 1
SLC12A6 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 73 31 1074 376 226 0 0 1780
OMIM 142 0 0 0 0 3 0 145
Fulgent Genetics,Fulgent Genetics 16 4 37 0 0 0 0 57
Athena Diagnostics Inc 12 2 0 0 10 0 0 24
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 6 6 0 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 0 12 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 0 12
GeneReviews 11 0 0 0 0 0 0 11
Institute of Human Genetics,Cologne University 3 3 4 0 0 0 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 4 3 0 0 0 0 9
UCLA Clinical Genomics Center, UCLA 2 4 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 2 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 1 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 4 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 4 0 0 0 0 0 0 4
Department of Medical Genetics,Oslo University Hospital 0 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 3 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 3 0 0 0 0 3
Antonellis Laboratory at Michigan,University of Michigan 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
Mendelics 1 1 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 0 0 2
Neurology Department,Peking University First Hospital 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 0 2
Neuromuscular Group,Huashan Hospital, Fudan University 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 0 1
Inherited Neuropathy Consortium 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1
Division of Genetic Medicine,Lausanne University Hospital 0 1 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1

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