ClinVar Miner

Variants studied for Spastic paraplegia

Coded as:
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 total
853 240 2730 6136 940 10890

Gene and significance breakdown #

Total genes and gene combinations: 73
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SACS 353 18 236 2351 225 3183
ZFYVE26 187 40 506 1380 76 2188
KIF5A 24 10 391 531 43 999
L1CAM 50 17 106 504 266 943
CYP7B1 55 7 149 191 15 416
AP4E1 5 10 182 144 25 366
KDM5C 17 8 84 154 77 340
B4GALNT1 12 4 102 89 19 226
GBA2 16 4 96 90 15 221
GJC2 10 2 127 60 9 208
CYP2U1 14 5 98 78 8 202
HSPD1 0 0 86 85 18 189
SLC16A2 22 2 71 55 30 180
FA2H 18 3 60 72 17 170
RTN2 5 1 72 62 22 162
SLC33A1 2 0 63 52 9 126
ARSI 0 0 70 25 16 111
ERLIN2 7 4 49 38 12 110
ZFYVE27 0 0 40 23 19 82
LOC130009366, SACS 6 2 2 63 4 77
TAPBPL, VAMP1 6 1 31 35 3 76
AP4S1 11 13 22 27 5 73
FA2H, LOC130059394 10 0 19 12 2 43
AP4B1 0 30 0 0 0 30
AP4M1 1 24 0 0 0 25
HPDL 0 25 0 0 0 25
SPAST 3 1 14 0 0 18
CYP7B1, LOC130000507 0 0 7 9 0 16
KIF1A 3 1 5 0 0 9
CYP2U1, LOC129992929 1 0 5 1 1 8
ABHD16A 0 0 6 0 0 6
KDM5C, LOC130068308 0 0 3 1 2 6
FA2H, LOC130059393 1 0 1 3 0 5
REEP1 1 1 3 0 0 5
BICD2 1 0 2 0 0 3
ATL1 1 1 0 0 0 2
CPT1C 0 0 2 0 0 2
HPDL, LOC129930439 0 2 0 0 0 2
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC132090179, SACS, SGCG 1 0 1 0 0 2
RNF170 2 0 0 0 0 2
SPG11 1 1 0 0 0 2
WASHC5 0 0 1 0 1 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, NAA10, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TMEM187 0 0 1 0 0 1
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 0 0 1 0 0 1
AP4E1, ARPP19, ATOSA, BCL2L10, CYP19A1, DMXL2, GLDN, GNB5, LEO1, LYSMD2, MAPK6, MYO5A, MYO5C, ONECUT1, SCG3, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, WDR72 1 0 0 0 0 1
AP5Z1 0 0 1 0 0 1
ARHGEF25, B4GALNT1, DTX3, KIF5A, PIP4K2C 0 0 1 0 0 1
BCAR1, CFDP1, CTRB1, CTRB2, FA2H, GLG1, LDHD, MLKL, RFWD3, WDR59, ZFP1, ZNRF1 0 0 1 0 0 1
BIRC6, DPY30, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 0 0 1 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 1
EGR2 0 0 1 0 0 1
GJC2, IBA57 0 0 1 0 0 1
HPDL, LOC129930440 0 1 0 0 0 1
HSD17B10, IQSEC2, KDM5C, RIBC1, SMC1A 0 0 1 0 0 1
IRF2BPL 0 1 0 0 0 1
KDM5C, MIR6894 0 0 0 0 1 1
KDM5C, MIR6895 0 0 0 1 0 1
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC132090179, SACS, SGCG 1 0 0 0 0 1
LOC130007245, TAPBPL, VAMP1 1 0 0 0 0 1
LOC130056709, NIPA1 0 0 1 0 0 1
LOC130068443, SLC16A2 0 0 1 0 0 1
MIPEP, PCOTH, SACS, SGCG, TNFRSF19 0 0 1 0 0 1
MTM1 1 0 0 0 0 1
NIPA1 1 0 0 0 0 1
NLRC4, SLC30A6, SPAST 0 1 0 0 0 1
RDH11, RDH12, ZFYVE26 0 0 1 0 0 1
RDH12, ZFYVE26 0 0 1 0 0 1
SETX 0 0 1 0 0 1
SLC19A3 0 0 1 0 0 1
SPG7 0 0 1 0 0 1
VAMP1 0 0 1 0 0 1
VCP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 836 129 2681 6136 940 10722
Yale Center for Mendelian Genomics, Yale University 2 101 0 0 0 103
Paris Brain Institute, Inserm - ICM 6 0 43 0 0 49
NIHR Bioresource Rare Diseases, University of Cambridge 4 4 0 0 0 8
Institute of Human Genetics, University of Wuerzburg 1 1 5 0 0 7
Care4Rare-SOLVE, CHEO 0 0 6 0 0 6
Baylor Genetics 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 1 0 0 1
Institute of Bioinformatics 1 0 0 0 0 1
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 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.