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
296 49 1528 285 116 4 2235

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 44 15 456 63 13 0 584
PRX 24 2 239 28 9 0 296
SBF2 10 2 161 27 10 0 206
FGD4 17 2 137 32 16 0 202
FIG4 19 2 91 24 6 0 139
MTMR2 17 4 88 20 13 0 137
NDRG1 5 2 78 18 5 0 107
MPZ 50 4 24 8 5 2 89
GDAP1 22 5 50 2 1 0 78
LOC101928008, SBF2 3 2 60 7 1 0 72
MFN2 0 0 38 32 2 0 72
PMP22 18 2 30 13 1 1 62
LITAF 10 1 30 2 2 0 45
SBF1 4 2 12 5 8 0 31
ARHGEF10 1 0 6 4 12 0 23
FBLN5 11 1 2 0 0 0 12
NEFL 9 1 2 0 0 0 12
EGR2 8 0 3 0 1 0 11
SURF1 5 0 1 0 2 1 9
CTDP1 1 0 0 0 4 0 5
HK1 2 2 1 0 0 0 5
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 4
GJB1 1 0 2 0 0 0 3
MPZ, SDHC 0 1 0 0 2 0 3
PTRH2 3 0 0 0 0 0 3
DYNC1H1 1 0 1 0 0 0 2
HSPB1 0 0 2 0 0 0 2
KIF1B 0 0 2 0 0 0 2
LOC114004390, SH3TC2 1 0 1 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
TRPV4 0 0 2 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
GDAP1, JPH1, LY96, TMEM70 0 0 1 0 0 0 1
IGHMBP2 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
LRSAM1 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
MORC2 0 0 1 0 0 0 1
PLD3, PRX 0 0 1 0 1 0 1
SEPTIN9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 22 807 74 0 0 988
Illumina Clinical Services Laboratory,Illumina 1 0 661 198 65 0 924
OMIM 115 0 0 0 0 0 115
GeneReviews 95 0 0 0 0 0 95
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 12 10 25 0 48
Inherited Neuropathy Consortium 0 0 40 0 0 0 40
Athena Diagnostics Inc 17 1 0 0 19 0 37
Genesis Genome Database 0 0 24 0 0 0 24
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
Mendelics 4 4 3 0 5 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 15 0 15
Baylor Genetics 11 0 1 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 5 0 9
Institute of Human Genetics,Cologne University 3 0 2 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 1 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 2 2 1 0 0 0 5
UCLA Clinical Genomics Center, UCLA 3 1 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 2 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 1 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
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
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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 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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