ClinVar Miner

Variants studied for axonal neuropathy

Included ClinVar conditions (8):
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
42 19 414 225 43 1 702

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GAN 34 15 362 203 40 0 616
GAN, LOC130059498 3 0 41 19 3 1 63
DCAF8 1 0 3 1 0 0 5
GARS1 0 0 2 2 0 0 4
ALS2 0 2 0 0 0 0 2
GAN, LOC130059497 0 0 2 0 0 0 2
MFN2 1 1 0 0 0 0 2
ARHGEF10 0 1 0 0 0 0 1
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, GAN, GCSH, PKD1L2 1 0 0 0 0 0 1
CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
FBLN5 0 0 1 0 0 0 1
GDAP1 1 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 1
SYT2 0 0 1 0 0 0 1
TRIM2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 5 265 203 19 0 517
Illumina Laboratory Services, Illumina 0 1 85 17 26 0 129
Inherited Neuropathy Consortium Ii, University Of Miami 3 0 63 0 0 0 66
Inherited Neuropathy Consortium 0 0 50 1 0 0 51
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 3 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 2 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 1 3 2 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Revvity Omics, Revvity 0 2 3 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 2 0 0 0 3
3billion 0 1 2 0 0 0 3
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1

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