ClinVar Miner

Variants studied for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
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
292 38 1502 430 186 4 2336

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 42 13 456 93 37 0 617
PRX 23 1 238 64 32 0 333
SBF2 9 2 163 43 15 0 221
FGD4 17 1 136 41 23 0 207
FIG4 19 2 91 42 13 0 155
MTMR2 17 3 87 28 22 0 144
NDRG1 5 1 80 32 10 0 122
GDAP1 21 4 49 11 3 0 88
MPZ 50 3 24 8 5 2 88
LOC101928008, SBF2 3 2 60 12 5 0 77
MFN2 0 0 35 32 2 0 69
PMP22 19 1 30 13 1 1 62
LITAF 10 1 31 8 4 0 54
ARHGEF10 1 0 4 3 7 0 15
FBLN5 10 1 1 0 0 0 11
NEFL 9 0 2 0 0 0 11
EGR2 8 0 3 0 0 0 10
SBF1 4 1 3 0 0 0 8
SURF1 5 0 1 0 0 1 7
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 4
CTDP1 1 0 0 0 3 0 4
HK1 2 1 1 0 0 0 4
GJB1 1 0 2 0 0 0 3
MPZ, SDHC 0 1 0 0 2 0 3
LOC114004390, SH3TC2 1 0 1 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
PTRH2 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
CCN4, KCNQ3, LRRC6, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
DMXL2 1 0 0 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
DYNC1H1 1 0 0 0 0 0 1
GDAP1, JPH1, LY96, TMEM70 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MIR4731, PMP22 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 22 823 229 103 0 1262
Illumina Clinical Services Laboratory,Illumina 1 0 661 198 65 0 924
OMIM 114 0 0 0 0 0 114
GeneReviews 95 0 0 0 0 0 95
Athena Diagnostics Inc 20 1 0 0 19 0 40
Inherited Neuropathy Consortium 0 0 40 0 0 0 40
Fulgent Genetics,Fulgent Genetics 6 2 13 0 0 0 21
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 0 14 0 0 0 19
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 15 0 15
Baylor Miraca Genetics Laboratories, 10 0 1 0 0 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 5 0 9
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3 3 0 0 0 0 6
Institute of Human Genetics,Cologne University 3 0 2 0 0 0 5
UCLA Clinical Genomics Center, UCLA 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Cirak Lab,University Hospital Cologne 4 0 0 0 0 0 4
Institute of Human Genetics,University of Goettingen 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 1 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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 1

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