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
173 89 1037 325 238 8 1813

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
ZFYVE26 13 43 183 18 26 0 278
PNPLA6 16 7 194 45 30 0 266
TECPR2 6 7 68 78 24 3 184
ATP13A2 10 4 95 31 27 0 165
CCT5 1 0 81 14 27 0 120
SPART 6 0 77 20 5 0 104
TFG 2 0 56 18 9 1 86
DDHD2 15 1 27 12 8 0 63
AP4B1 10 2 33 9 9 0 61
AP4M1 9 6 27 14 7 0 60
KIF1C 3 2 30 12 15 0 60
MAG 3 0 22 12 9 0 46
INCA1, KIF1C 2 2 19 8 6 0 37
AMPD2 1 0 17 9 8 0 35
VPS37A 1 0 21 4 6 0 32
C19orf12 5 1 14 5 4 1 29
IBA57 2 1 14 6 4 0 27
NT5C2 9 2 13 3 0 0 27
ENTPD1 3 1 16 3 2 0 25
ARL6IP1 1 0 8 2 2 0 13
GBA2 8 3 1 0 0 1 10
HACE1 10 0 0 0 0 0 10
AP4E1 2 1 2 0 3 0 8
CAPN1 7 1 1 0 0 0 8
CNNM2, NT5C2 1 0 6 1 0 0 8
C12orf65 6 0 1 0 0 0 7
MCOLN1, PNPLA6 0 0 1 0 6 0 7
AP4S1 3 3 1 0 0 0 6
ALDH18A1 3 0 1 0 0 1 5
B4GALNT1 5 1 0 0 0 0 5
GPT2 4 0 2 0 0 0 5
AP4B1, DCLRE1B 0 0 2 1 1 0 4
ERLIN2 2 1 0 0 0 0 3
GJC2 1 0 1 0 0 1 3
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
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: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 19 606 281 173 0 1126
Illumina Clinical Services Laboratory,Illumina 0 0 386 42 67 0 495
OMIM 102 0 1 0 0 0 103
Counsyl 2 40 25 0 1 0 68
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
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 2 3 6 0 1 0 12
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 8 0 11
Mendelics 6 1 0 0 3 0 10
GenomeConnect, ClinGen 0 0 0 0 0 8 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 5 0 8
Baylor Genetics 4 2 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 3 1 0 0 0 7
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 0 1 0 5
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 1 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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 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
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 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
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
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

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