ClinVar Miner

Variants studied for Hereditary spastic paraplegia

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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 affects association not provided total
131 108 1183 381 249 7 1 1 2050

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
SACS 10 7 88 36 13 0 0 0 153
SPG11 28 21 71 17 15 0 0 0 149
ZFYVE26 6 4 59 29 21 0 0 0 119
USP8 0 0 53 37 19 0 0 0 109
AP5Z1 2 4 72 12 13 0 0 0 103
KIF1A 4 3 55 18 11 0 0 0 91
SPAST 26 20 24 2 2 0 0 0 74
TECPR2 1 2 51 12 8 0 0 0 74
SETX 0 0 47 18 6 0 0 0 71
SPG7 15 6 30 8 7 0 0 0 66
KIF1C 0 1 39 6 9 0 0 0 53
PNPLA6 1 2 30 10 7 0 0 0 50
KIF5A 3 4 19 11 6 0 0 1 42
ALS2 0 0 32 6 3 0 0 0 41
WASHC5 0 1 27 6 4 0 0 0 38
POLG, POLGARF 0 1 22 6 3 0 0 0 32
AP4E1 0 0 22 7 1 0 0 0 30
PGAP1 0 0 21 5 4 0 0 0 30
ALDH18A1 0 1 17 5 5 0 0 0 28
DDHD1 1 0 20 4 3 0 0 0 28
CYP2U1 1 2 19 3 2 0 0 0 27
GBA2 2 1 17 3 4 0 0 0 27
L1CAM 0 0 11 12 4 0 0 0 27
AP4M1 1 0 20 1 4 0 0 0 26
CYP7B1 5 4 13 3 2 0 0 0 26
DDHD2 1 2 14 8 1 0 0 0 26
POLG 5 2 8 5 6 0 0 0 26
USP50, USP8 0 0 14 7 4 0 0 0 25
AP4B1 0 1 14 4 5 0 0 0 24
BSCL2, HNRNPUL2-BSCL2 1 0 20 2 1 0 0 0 24
FA2H 1 2 11 3 7 0 0 0 24
ENTPD1 0 0 18 2 1 0 0 0 21
HSPD1 0 0 8 6 7 0 0 0 21
TWNK 0 0 16 3 1 0 0 0 20
ATL1 3 4 2 7 3 0 0 0 19
GJC2 0 0 11 6 2 0 0 0 19
REEP1 5 5 6 2 1 0 0 0 19
SPG21 1 2 15 0 1 0 0 0 19
SPART 0 0 15 2 1 0 0 0 18
RTN2 0 0 7 6 4 0 0 0 17
VPS37A 0 0 10 4 2 0 0 0 16
MILR1, POLG2 0 0 8 4 2 0 0 0 14
C19orf12 2 0 6 1 2 0 0 0 11
ERLIN2 3 1 6 0 2 0 0 0 11
MTRFR 0 0 7 3 1 0 0 0 11
SLC33A1 0 0 5 5 1 0 0 0 11
ERLIN1 0 1 7 2 0 0 0 0 10
SLC16A2 0 1 4 4 1 0 0 0 10
NIPA1 1 0 5 1 1 0 0 0 8
KIF1C, LOC126862473 0 0 4 1 2 0 0 0 7
LOC130056709, NIPA1 0 0 3 4 1 0 0 0 7
AP4S1 0 0 3 3 0 0 0 0 6
LOC130059818, SPG7 0 0 4 0 2 0 0 0 6
CNNM2, NT5C2 0 0 3 1 1 0 0 0 5
LOC126860498, WASHC5 0 0 2 2 1 0 0 0 5
PLP1, RAB9B 1 0 3 0 1 0 0 0 5
FANCI, POLG 0 0 1 0 3 0 0 0 4
KIF1A, LOC126806583 0 0 2 2 0 0 0 0 4
NT5C2 0 0 4 0 0 0 0 0 4
AP5B1 0 0 3 0 0 0 0 0 3
KIF1C, LOC126862472 0 0 2 1 0 0 0 0 3
LOC130009366, SACS 0 0 3 0 0 0 0 0 3
MAG 0 0 3 0 0 0 0 0 3
MCOLN1, PNPLA6 0 0 0 0 3 0 0 0 3
AP4B1, DCLRE1B, LOC129931235 0 0 2 0 0 0 0 0 2
AP5Z1, LOC129997861 0 0 0 1 1 0 0 0 2
ARSI 0 0 2 0 0 0 0 0 2
BICD2 0 0 2 0 0 0 0 0 2
CYP2U1, LOC129992929 0 0 1 0 1 0 0 0 2
FA2H, LOC130059394 0 0 2 0 0 0 0 0 2
LOC130064702, RTN2 0 0 2 0 0 0 0 0 2
ADAM28, ADAM7 0 0 0 0 0 1 0 0 1
ADGRB2 0 0 1 0 0 0 0 0 1
AMPD2 0 0 1 0 0 0 0 0 1
AMPD2, LOC126805822 0 0 1 0 0 0 0 0 1
AP5Z1, LOC129997864 0 0 1 0 0 0 0 0 1
AP5Z1, MIR4656 0 0 1 0 0 0 0 0 1
ARHGAP9, MARS1 0 0 1 0 0 0 0 0 1
CCT5 0 0 1 0 0 0 0 0 1
CEP63, KY 1 0 0 0 0 0 0 0 1
CYP7B1, LOC130000507 0 0 1 0 0 0 0 0 1
DNAJC16 0 0 0 0 0 1 0 0 1
FLRT1, MACROD1 0 0 1 0 0 0 0 0 1
GAD1 0 0 1 0 0 0 0 0 1
JAK3 0 0 0 0 0 1 0 0 1
KIF26A 0 0 0 0 0 0 1 0 1
LOC126860782, SETX 0 0 0 1 0 0 0 0 1
LOC129935332, PGAP1 0 0 1 0 0 0 0 0 1
LOC130056519, TECPR2 0 0 1 0 0 0 0 0 1
LOC130063377, PNPLA6 0 0 1 0 0 0 0 0 1
MIR6766, POLG 0 0 0 1 0 0 0 0 1
MYT1 0 0 0 0 0 1 0 0 1
NRG1 0 0 0 0 0 1 0 0 1
PLEKHG5 0 1 0 0 0 0 0 0 1
PTPN23 0 1 0 0 0 0 0 0 1
RETREG1 0 0 1 0 0 0 0 0 1
SH3TC2 0 1 0 0 0 0 0 0 1
SLC1A5 0 0 0 0 0 1 0 0 1
TUBB 0 0 0 0 0 1 0 0 1
WDR48 0 0 1 0 0 0 0 0 1
ZFR 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Genome Diagnostics Laboratory, The Hospital for Sick Children 95 79 1071 337 226 0 0 0 1808
Invitae 0 0 67 44 23 0 0 0 134
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 18 5 47 0 0 0 0 0 70
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 17 0 0 0 0 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 2 0 0 0 0 0 0 10
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province 1 0 0 0 0 7 0 0 8
Paris Brain Institute, Inserm - ICM 3 0 0 0 0 0 0 0 3
Inherited Neuropathy Consortium 0 2 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 0 0 0 1 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 0 1
New Leaf Center 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 1
Genetic Medicine Clinic, University Of Washington Medical Center 0 0 0 0 0 0 0 1 1

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