ClinVar Miner

Variants studied for autosomal recessive complex spastic paraplegia

Included ClinVar conditions (42):
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
137 58 334 119 115 5 748

Gene and significance breakdown #

Total genes and gene combinations: 40
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZFYVE26 10 40 31 1 1 0 80
ATP13A2 6 1 41 8 13 0 69
PNPLA6 10 2 28 13 16 0 68
SPART 3 0 43 24 2 0 68
TECPR2 3 2 31 11 11 1 57
TFG 2 0 22 6 10 0 40
AP4B1 8 2 16 5 7 0 36
DDHD2 12 1 11 8 3 0 35
CCT5 1 0 11 9 10 0 31
AP4M1 8 0 16 3 4 0 30
KIF1C 3 2 10 5 11 0 29
MAG 3 0 13 4 4 0 24
NT5C2 7 1 6 2 0 0 16
C19orf12 2 0 6 3 4 1 15
AMPD2 1 0 5 5 3 0 14
INCA1, KIF1C 2 0 5 4 3 0 14
VPS37A 1 0 8 1 3 0 13
IBA57 1 0 5 4 2 0 12
ENTPD1 2 0 7 0 1 0 10
GBA2 8 0 0 0 0 1 9
HACE1 9 0 0 0 0 0 9
AP4E1 2 1 2 0 3 0 8
C12orf65 6 0 1 0 0 0 7
ARL6IP1 1 0 4 1 0 0 6
CAPN1 5 1 1 0 0 0 6
ALDH18A1 3 0 1 0 0 1 5
AP4S1 3 2 1 0 0 0 5
B4GALNT1 5 0 0 0 0 0 5
CNNM2, NT5C2 0 0 3 2 0 0 5
GPT2 3 0 2 0 0 0 4
AP4M1, MCM7 1 2 1 0 0 0 3
ERLIN2 2 1 0 0 0 0 3
GJC2 1 0 1 0 0 1 3
MCOLN1, PNPLA6 0 0 0 0 3 0 3
ANKRD9, TECPR2 0 0 1 0 0 0 1
AP4B1, DCLRE1B 0 0 0 0 1 0 1
AP4E1, SPPL2A 1 0 0 0 0 0 1
DSTYK 1 0 0 0 0 0 1
GRID2, LNCPRESS2 0 0 1 0 0 0 1
KLC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 7 239 104 105 0 473
OMIM 102 0 1 0 0 0 103
Counsyl 2 39 25 0 1 0 67
Illumina Clinical Services Laboratory,Illumina 0 0 39 12 1 0 52
Fulgent Genetics 2 1 17 1 0 0 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 8 0 11
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 0 5 0 0 0 10
Genetic Services Laboratory, University of Chicago 3 3 2 0 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 5 0 8
Baylor Miraca Genetics Laboratories, 4 2 1 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 1 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 1 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 1 1 0 0 0 2
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Paisan-Ruiz Laboratory,Icahn School of Medicine at Mount Sinai 1 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 0 1 0 0 0 1
Department of Neurology,The Third Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.