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
244 116 1348 634 248 8 2500

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
PNPLA6 23 7 271 106 30 0 408
TECPR2 17 13 130 214 32 3 379
ZFYVE26 21 45 192 18 26 0 297
ATP13A2 13 6 121 63 27 0 228
CCT5 1 0 91 17 27 0 131
TFG 3 0 74 37 9 1 124
SPART 5 0 79 20 5 0 106
AP4B1 12 4 50 14 10 0 88
DDHD2 20 2 36 17 8 0 81
KIF1C 6 2 45 15 15 0 79
AP4M1 10 6 33 22 7 0 73
MAG 4 2 24 17 9 0 56
AMPD2 1 0 23 20 8 0 52
INCA1, KIF1C 4 2 24 9 6 0 45
VPS37A 1 0 27 6 6 0 40
IBA57 3 2 21 9 4 0 39
ENTPD1 3 1 24 6 2 0 36
C19orf12 5 1 16 9 4 1 34
NT5C2 9 5 15 6 0 0 34
CAPN1 17 3 1 0 0 0 20
GBA2 10 5 7 0 0 1 20
ARL6IP1 1 0 8 4 2 0 15
GPT2 9 1 6 0 0 0 15
CNNM2, NT5C2 1 0 7 4 0 0 12
HACE1 10 0 2 0 0 0 12
AP4E1 3 1 4 0 3 0 11
B4GALNT1 8 1 1 0 1 0 10
MTRFR 7 1 2 0 0 0 9
AP4S1 3 3 3 0 0 0 8
ERLIN2 5 2 0 0 0 0 7
MCOLN1, PNPLA6 0 0 1 0 6 0 7
ALDH18A1 3 0 2 0 0 1 6
GJC2 2 1 1 0 0 1 5
AP4B1, DCLRE1B 0 0 2 1 1 0 4
KLC2 2 0 1 0 0 0 3
DSTYK 1 0 1 0 0 0 2
ANKRD9, TECPR2 0 0 1 0 0 0 1
AP4E1, SPPL2A 1 0 0 0 0 0 1
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 0 1
GRID2, LNCPRESS2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 22 808 574 173 0 1644
Illumina Clinical Services Laboratory,Illumina 0 0 387 42 67 0 496
Natera, Inc. 1 0 73 30 16 0 120
OMIM 108 0 1 0 0 0 109
Baylor Genetics 9 7 69 0 0 0 85
Counsyl 2 40 25 0 1 0 68
Paris Brain Institute,Inserm - ICM 45 0 0 0 0 0 45
Institute of Human Genetics, University of Leipzig Medical Center 6 9 11 1 1 0 28
Fulgent Genetics,Fulgent Genetics 2 1 17 1 0 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 7 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 4 2 0 1 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 8 0 11
Mendelics 6 1 0 0 3 0 10
Genetic Services Laboratory, University of Chicago 3 4 1 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 5 0 8
SIB Swiss Institute of Bioinformatics 4 3 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 5 1 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 1 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 2 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 1 1 2 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 1 0 0 0 4
Section for Clinical Neurogenetics,University of Tübingen 2 2 0 0 0 0 4
Institute of Human Genetics,Cologne University 2 1 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 1 0 0 0 3
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 1 2 0 0 0 0 3
Undiagnosed Diseases Network,NIH 0 1 2 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 1 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 0 2
Nilou-Genome Lab 0 0 0 0 2 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 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
Kasturba Medical College, Manipal 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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
Breda Genetics srl 0 1 0 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
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1

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