ClinVar Miner

Variants studied for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
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Gene type:
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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 risk factor not provided total
2262 1225 9382 8659 1389 8 1 1 175 21720

Gene and significance breakdown #

Total genes and gene combinations: 248
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
SPG11 422 168 1246 1350 71 1 0 0 93 3093
KIF1A 90 74 1055 1409 116 0 0 0 5 2584
TECPR2 75 46 256 869 54 0 0 0 3 1224
PNPLA6 68 32 501 598 69 0 0 0 3 1193
SPAST 472 123 339 208 53 0 0 1 12 1120
ATP13A2 46 24 373 416 47 0 0 0 1 888
AP5Z1 34 24 482 340 72 0 0 0 1 858
SPG7 135 106 345 251 38 0 0 0 10 768
ALDH18A1 27 17 323 198 17 0 0 0 3 569
ZFYVE26 36 177 260 40 51 0 0 0 1 512
ATL1 57 40 240 149 38 0 0 0 12 485
KIF1C 14 8 182 209 41 0 0 0 0 424
WASHC5 24 13 213 147 36 0 0 0 5 406
DDHD1 22 2 187 142 26 0 0 0 0 368
TFG 4 2 178 154 17 0 0 0 1 354
REEP1 55 25 154 92 31 0 0 0 0 346
AP4M1 30 18 130 162 19 0 0 0 0 340
CPT1C 8 6 144 132 19 0 0 0 0 307
AP4B1 37 12 149 100 15 0 0 0 0 292
CCT5 1 1 160 98 39 0 0 0 0 290
MAG 8 6 101 127 18 0 0 0 0 257
DDHD2 27 11 110 99 12 0 0 0 0 244
PLP1, RAB9B 44 13 69 86 23 0 0 0 0 232
AMPD2 5 8 90 105 16 0 0 0 1 221
NIPA1 4 1 117 58 48 0 0 0 0 219
IBA57 15 7 90 80 9 0 0 0 0 198
ENTPD1 9 3 70 72 9 0 0 0 1 157
SACS 10 7 88 36 13 0 0 0 0 153
NT5C2 19 9 45 73 8 0 0 0 1 149
VPS37A 1 0 81 57 15 0 0 0 0 149
KIF5A 28 14 72 30 19 0 0 0 1 146
C19orf12 7 9 76 46 5 0 0 0 1 132
USP8 0 0 62 38 20 0 0 0 0 119
BSCL2, HNRNPUL2-BSCL2 6 8 84 13 4 0 0 0 4 115
SPART 8 4 85 14 5 0 0 0 1 114
PI4KA 17 16 24 32 26 0 0 0 0 112
FA2H 16 21 56 11 17 0 0 0 0 111
ERLIN1 3 1 48 54 5 0 0 0 0 106
REEP2 4 3 36 51 8 0 0 0 1 102
SPG21 11 5 58 32 7 0 0 0 0 100
KIF1A, LOC126806583 1 1 32 60 6 0 0 0 1 96
CYP7B1 28 15 48 5 5 0 0 0 2 93
AMPD2, LOC126805822 1 4 31 46 8 0 0 0 0 89
ZFYVE27 1 0 35 10 34 0 0 0 0 75
SETX 0 0 47 18 6 0 0 0 0 71
L1CAM 11 11 26 14 5 0 0 0 0 67
LOC130059818, SPG7 9 7 39 13 2 0 0 0 0 65
AP4E1 6 2 30 8 22 0 0 0 1 62
KIDINS220 8 7 38 4 3 0 0 0 2 62
CYP2U1 19 10 30 3 3 0 0 0 0 60
GBA2 14 11 29 4 5 0 0 0 1 59
LOC130056709, NIPA1 1 0 38 18 6 0 0 0 0 57
LOC130056973, SPG11 7 1 17 26 0 0 0 0 2 52
HSPD1 2 1 29 8 14 0 0 0 0 50
ARL6IP1 4 1 15 23 6 0 0 0 0 49
RTN2 5 6 26 10 4 0 0 0 0 49
KIF1C, LOC126862473 0 1 16 20 6 0 0 0 0 42
ALS2 0 0 32 6 3 0 0 0 0 41
POLG 5 3 21 6 6 0 0 0 0 41
KIF1C, LOC126862472 2 0 10 24 6 0 0 0 0 39
HACE1 16 3 11 0 6 0 0 0 0 36
CAPN1 19 5 6 0 4 0 0 0 0 33
CNNM2, NT5C2 1 0 15 15 2 0 0 0 0 32
GPT2 10 6 17 0 0 0 0 0 0 30
PGAP1 0 0 21 5 4 0 0 0 0 30
USP50, USP8 0 0 17 7 5 0 0 0 0 29
GJC2 3 1 14 6 2 0 0 0 2 28
AP4S1 6 5 9 3 4 0 0 0 0 25
LOC126860498, WASHC5 0 0 19 8 3 0 0 0 0 25
LOC130056519, TECPR2 2 1 11 12 0 0 0 0 0 25
ERLIN2 12 2 9 0 2 0 0 0 0 24
FA2H, LOC130059394 6 7 10 0 1 0 0 0 0 22
LOC130056971, SPG11 5 0 10 7 0 0 0 0 1 21
MTRFR 8 1 9 3 1 0 0 0 0 21
TWNK 0 0 16 3 1 0 0 0 0 20
B4GALNT1 11 4 4 0 1 0 0 0 1 19
UBAP1 12 4 3 0 0 0 0 0 0 18
UCHL1 10 1 2 3 2 0 0 0 0 18
POLG, POLGARF 0 0 9 5 3 0 0 0 0 17
SLC33A1 2 0 8 5 3 0 0 0 0 16
AP4B1, DCLRE1B, LOC129931235 1 0 11 2 1 0 0 0 0 14
ATL1, MAP4K5 0 0 7 6 1 0 0 0 0 14
DDHD1, LOC130055658 0 0 7 7 0 0 0 0 0 14
LOC130063377, PNPLA6 0 0 8 6 0 0 0 0 0 14
MILR1, POLG2 0 0 8 4 2 0 0 0 0 14
PLP1 11 0 3 0 0 0 0 0 0 14
AMPD2, LOC129931109 1 1 4 7 1 0 0 0 0 13
PCYT2 5 5 3 0 0 0 0 0 0 13
DSTYK 2 1 6 0 2 0 0 0 0 11
NFU1 11 0 0 0 0 0 0 0 0 11
AP5Z1, LOC129997864 0 0 7 4 0 0 0 0 0 10
FARS2 3 3 5 0 1 0 0 0 0 10
SLC16A2 0 1 4 4 1 0 0 0 0 10
SPTAN1 3 1 2 5 0 0 0 0 0 10
KPNA3 5 0 4 0 0 0 0 0 0 9
ABHD16A 6 1 1 0 0 0 0 0 0 8
AP5Z1, LOC129997861 0 0 3 5 1 0 0 0 0 8
ARL6IP1, LOC130058582 0 0 2 5 1 0 0 0 0 8
FARS2, LOC126859565 3 2 5 0 0 0 0 0 1 8
ATP13A2, LOC129929540 0 0 4 3 0 0 0 0 0 7
MCOLN1, PNPLA6 0 0 1 1 6 0 0 0 0 7
RNF170 4 3 1 0 0 0 0 0 0 7
​intergenic 5 0 1 0 0 0 0 0 0 6
AP4B1, LOC129931235 0 0 2 4 0 0 0 0 0 6
C19orf12, LOC130064129 0 0 4 2 0 0 0 0 0 6
LOC129933455, SPAST 5 1 0 0 0 0 0 0 0 6
LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, NIPA1 0 0 6 0 0 0 0 0 0 6
SELENOI 4 0 2 0 0 0 0 0 0 6
HSPD1, LOC129935358 0 0 2 0 3 0 0 0 0 5
KLC2 1 0 1 0 3 0 0 0 0 5
BICD2 0 0 4 0 0 0 0 0 0 4
CAPN1, LOC126861236 1 0 0 0 3 0 0 0 0 4
CYP2U1, LOC129992929 0 2 1 0 1 0 0 0 0 4
FANCI, POLG 0 0 1 0 3 0 0 0 0 4
TMEM63C 4 0 0 0 0 0 0 0 0 4
AMFR 3 0 0 0 0 0 0 0 0 3
AP5B1 0 0 3 0 0 0 0 0 0 3
CYP7B1, LOC130000508 0 0 2 0 1 0 0 0 0 3
GPT2, LOC130058930 0 1 2 0 0 0 0 0 0 3
HPDL 1 1 0 1 0 0 0 0 0 3
LOC129994740, REEP2 0 0 1 2 0 0 0 0 0 3
LOC130001093, WASHC5 0 0 1 0 2 0 0 0 0 3
LOC130009366, SACS 0 0 3 0 0 0 0 0 0 3
LOC130064702, RTN2 0 0 2 0 1 0 0 0 0 3
MARS1 3 0 0 0 0 0 0 0 0 3
NIPA1, NIPA2 0 0 1 2 0 0 0 0 0 3
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 1 0 0 0 0 0 0 2
AGXT, KIF1A 0 0 2 0 0 0 0 0 0 2
AMFR, LOC130059041 2 0 0 0 0 0 0 0 0 2
AP5Z1, MIR4656 0 0 2 0 0 0 0 0 0 2
ARF1, C1orf35, GJC2, GUK1, IBA57, MRPL55, OBSCN, WNT3A 1 0 1 0 0 0 0 0 0 2
ARHGAP9, MARS1 1 0 1 0 0 0 0 0 0 2
ARSI 0 0 2 0 0 0 0 0 0 2
BIRC6, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 1 0 0 0 0 0 0 0 2
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 2 0 0 0 0 0 0 2
COL3A1 0 2 0 0 0 0 0 0 0 2
CYP7B1, LOC130000507 0 0 2 0 0 0 0 0 0 2
LOC112841602, LOC122787147, LOC129934249, REEP1 0 0 2 0 0 0 0 0 0 2
LOC129933454, LOC129933455, SPAST 2 0 0 0 0 0 0 0 0 2
LOC130001092, WASHC5 0 0 1 0 1 0 0 0 0 2
LOC130004486, ZFYVE27 0 0 1 0 1 0 0 0 0 2
LOC130056974, SPG11 0 1 1 0 0 0 0 0 0 2
PAH 2 0 0 0 0 0 0 0 0 2
SPTSSA 2 0 0 0 0 0 0 0 0 2
UCHL1, UCHL1-DT 1 0 1 0 0 0 0 0 0 2
ADAM28, ADAM7 0 0 0 0 0 1 0 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 0 0 0 0 1
ADAM9, DDHD2, FGFR1, HTRA4, LETM2, LINC03042, NSD3, PLEKHA2, PLPP5, TACC1, TM2D2 0 0 1 0 0 0 0 0 0 1
ADGRB2 0 0 1 0 0 0 0 0 0 1
AGXT, KIF1A, MAB21L4 0 1 0 0 0 0 0 0 0 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CD53, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, LAMTOR5, LRIF1, MIR197, MYBPHL, NBPF4, NBPF6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC25A24, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, WDR47 1 0 0 0 0 0 0 0 0 1
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 0 0 0 1
ALKBH6, APLP1, ARHGAP33, ATP4A, CAPNS1, CD22, CEBPA, CEBPG, CEP89, CHST8, CLIP3, COX6B1, COX7A1, DMKN, ETV2, FAAP24, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GARRE1, GPATCH1, GPI, GPR42, GRAMD1A, HAMP, HAUS5, HCST, HPN, HSPB6, IGFLR1, KCTD15, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LRFN3, LRP3, LSM14A, LSR, MAG, NFKBID, NPHS1, NUDT19, OVOL3, PDCD2L, PEPD, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, RGS9BP, RHPN2, SBSN, SCGB2B2, SCN1B, SDHAF1, SLC7A10, SLC7A9, SYNE4, TBCB, TDRD12, THAP8, TMEM147, TYROBP, U2AF1L4, UBA2, UPK1A, USF2, WDR62, WDR88, WTIP, ZBTB32, ZNF181, ZNF30, ZNF302, ZNF599, ZNF792 0 0 1 0 0 0 0 0 0 1
AMPD1, AP4B1, BCAS2, BCL2L15, CAPZA1, CSDE1, CTTNBP2NL, DCLRE1B, DENND2C, HIPK1, KCND3, LRIG2, MAGI3, MOV10, NRAS, OLFML3, PHTF1, PPM1J, PTPN22, RHOC, RSBN1, SIKE1, SLC16A1, ST7L, SYCP1, SYT6, TAFA3, TRIM33, TSHB, WNT2B 1 0 0 0 0 0 0 0 0 1
AMPD2, GNAT2 0 0 1 0 0 0 0 0 0 1
ANKRD11, SPG7 1 0 0 0 0 0 0 0 0 1
ANKRD9, LOC130056519, TECPR2 0 0 1 0 0 0 0 0 0 1
AP4B1, DCLRE1B 0 0 0 0 1 0 0 0 0 1
AP4E1, LOC125078079, LOC130057047, LOC130057048, LOC130057049, LOC130057050, SPPL2A 1 0 0 0 0 0 0 0 0 1
AP4M1, LOC129998897 0 0 1 0 0 0 0 0 0 1
AP4M1, MCM7 1 0 0 0 0 0 0 0 0 1
AP5Z1, LOC129997864, LOC129997865, MIR4656 0 0 1 0 0 0 0 0 0 1
AP5Z1, LOC129997865 0 0 1 0 0 0 0 0 0 1
APOA1 1 0 0 0 0 0 0 0 0 1
ARHGEF18, MCOLN1, PEX11G, PNPLA6, SAXO5, ZNF358 0 0 1 0 0 0 0 0 0 1
ARL6IP1, LOC130058581, LOC130058582 0 0 1 0 0 0 0 0 0 1
ARMC9, B3GNT7, LINC00471, LOC108348027, LOC114004369, LOC121009629, LOC121725122, LOC121725123, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC126806551, LOC129389008, LOC129389009, LOC129935822, LOC129935823, LOC129935824, LOC129935825, LOC129935826, LOC129935827, LOC129935828, LOC129935829, LOC129935830, LOC129935831, LOC129935832, LOC129935833, LOC129935834, LOC129935835, LOC129935836, LOC129935837, LOC129935838, LOC129935839, LOC129935840, LOC129935841, MIR4777, NCL, NMUR1, SNORA75, SNORD20, SNORD82, TEX44 0 0 1 0 0 0 0 0 0 1
ASAH1, ATP6V1B2, CNOT7, CSGALNACT1, FGF20, FGL1, INTS10, LPL, LZTS1, MICU3, MTMR7, MTUS1, NAT1, NAT2, PCM1, PDGFRL, PSD3, SH2D4A, SLC18A1, SLC7A2, VPS37A, ZDHHC2 0 0 1 0 0 0 0 0 0 1
ATOH8, C2orf68, GGCX, GNLY, IMMT, MAT2A, MRPL35, POLR1A, PTCD3, REEP1, RNF181, SFTPB, ST3GAL5, TMEM150A, USP39, VAMP5, VAMP8 1 0 0 0 0 0 0 0 0 1
B2M, PATL2, SPG11, TRIM69 0 0 1 0 0 0 0 0 0 1
BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31 1 0 0 0 0 0 0 0 0 1
BIRC6, LTBP1, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 0 0 0 0 0 0 0 0 1
BIRC6, NLRC4, SLC30A6, SPAST, YIPF4 1 0 0 0 0 0 0 0 0 1
BMP4, DDHD1 0 0 1 0 0 0 0 0 0 1
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 0 0 0 0 1
CEP63, KY 1 0 0 0 0 0 0 0 0 1
CNNM2, LOC130004629, NT5C2 1 0 0 0 0 0 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 0 1
DNAJC16 0 0 0 0 0 1 0 0 0 1
DNM1L 0 0 1 0 0 0 0 0 0 1
DPY30, LOC129933452, LOC129933453, LOC129933454, LOC129933455, SPAST 1 0 0 0 0 0 0 0 0 1
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 0 0 1
DYNC1H1 0 0 1 0 0 0 0 0 0 1
EEF1A2 0 1 0 0 0 0 0 0 0 1
EIF3J, SPG11 0 0 1 0 0 0 0 0 0 1
ENTPD1, LOC130004411 0 0 1 0 0 0 0 0 0 1
ERLIN1, LOC130004518 0 0 0 0 1 0 0 0 0 1
FA2H, LOC130059393 0 0 1 0 0 0 0 0 0 1
FA2H, LOC130059393, LOC130059394, LOC130059395, LOC130059396 0 1 0 0 0 0 0 0 0 1
FA2H, LOC132090400 1 0 0 0 0 0 0 0 0 1
FARS2, LOC101927950, LOC126859568, LOC129995681, LOC129995682 1 1 0 0 0 0 0 0 0 1
FARS2, LOC129995672, LYRM4 0 0 0 1 0 0 0 0 0 1
FGG 1 0 0 0 0 0 0 0 0 1
FLRT1, MACROD1 0 0 1 0 0 0 0 0 0 1
GAD1 0 0 1 0 0 0 0 0 0 1
GARS1 0 0 1 0 0 0 0 0 0 1
GFAP 1 0 0 0 0 0 0 0 0 1
GNAS 1 0 0 0 0 0 0 0 0 1
GRID2, LNCPRESS2, LOC123477787, LOC126807111 0 0 1 0 0 0 0 0 0 1
HACE1, LOC113121301 0 0 0 0 1 0 0 0 0 1
HPDL, LOC129930440 0 1 0 0 0 0 0 0 0 1
IFNA1, IFNA13, IFNA2, IFNA5, IFNA6, IFNA8, KLHL9, LOC130001592, LOC130001593, LOC130001594, LOC130001595, LOC130001596, LOC130001597, MIR31HG 0 0 1 0 0 0 0 0 0 1
JAK3 0 0 0 0 0 1 0 0 0 1
KIF26A 0 0 0 0 0 0 1 0 0 1
LOC126860782, SETX 0 0 0 1 0 0 0 0 0 1
LOC129388840, LOC129933456, NLRC4, SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 0 0 0 1
LOC129388840, LOC129933456, SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 0 0 0 1
LOC129935332, PGAP1 0 0 1 0 0 0 0 0 0 1
LOC130009569, SPART 0 0 1 0 0 0 0 0 0 1
LOC130056972, LOC130056973, SPG11 1 0 0 0 0 0 0 0 0 1
LOC130059818, LOC130059819, LOC130059820, LOC130059821, SPG7 1 0 0 0 0 0 0 0 0 1
LOC130059818, LOC130059819, SPG7 1 0 0 0 0 0 0 0 0 1
LOC130059820, LOC130059821, SPG7 1 0 0 0 0 0 0 0 0 1
LOC130061984, PCYT2 0 1 0 0 0 0 0 0 0 1
LRBA 0 0 1 0 0 0 0 0 0 1
MCOLN1 0 0 1 0 0 0 0 0 0 1
MIR6766, POLG 0 0 0 1 0 0 0 0 0 1
MORF4L2, PLP1, RAB9B, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B 1 0 0 0 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 0 0 0 1
MT-TK 0 1 0 0 0 0 0 0 0 1
MUTYH 0 1 0 0 0 0 0 0 0 1
MYT1 0 0 0 0 0 1 0 0 0 1
NRG1 0 0 0 0 0 1 0 0 0 1
NSD1 0 0 1 0 0 0 0 0 0 1
NSMCE2, WASHC5 0 0 1 0 0 0 0 0 0 1
OFD1, TRAPPC2 1 0 0 0 0 0 0 0 0 1
PATL2, SPG11 1 0 0 0 0 0 0 0 0 1
PHF6 1 0 0 0 0 0 0 0 0 1
PLD3, PRX 0 0 1 0 0 0 0 0 0 1
PLEKHG5 0 1 0 0 0 0 0 0 0 1
PLP1, TMEM31 1 0 0 0 0 0 0 0 0 1
PPM1N, RTN2 0 0 1 0 0 0 0 0 0 1
PRKN 0 1 0 0 0 0 0 0 0 1
PTPN23 0 1 0 0 0 0 0 0 0 1
RETREG1 0 0 1 0 0 0 0 0 0 1
SETBP1 0 0 1 0 0 0 0 0 0 1
SH3TC2 0 1 0 0 0 0 0 0 0 1
SLC1A5 0 0 0 0 0 1 0 0 0 1
SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 0 0 0 1
SLC30A6-DT, SPAST 1 0 0 0 0 0 0 0 0 1
SON 1 0 0 0 0 0 0 0 0 1
SORL1 1 0 0 0 0 0 0 0 0 1
SQSTM1 1 0 0 0 0 0 0 0 0 1
TBK1 0 0 1 0 0 0 0 0 0 1
TCF4 0 1 0 0 0 0 0 0 0 1
TUBB 0 0 0 0 0 1 0 0 0 1
WDR48 0 0 1 0 0 0 0 0 0 1
ZFR 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 207
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1351 290 6483 8062 868 0 0 0 0 17053
Illumina Laboratory Services, Illumina 2 3 1368 218 364 0 0 0 0 1955
Genome Diagnostics Laboratory, The Hospital for Sick Children 95 81 1069 337 226 0 0 0 0 1808
Genome-Nilou Lab 61 21 215 60 290 0 0 0 0 647
Fulgent Genetics, Fulgent Genetics 86 176 230 67 8 0 0 0 0 567
OMIM 376 0 1 0 0 0 0 0 0 377
Paris Brain Institute, Inserm - ICM 352 0 3 1 0 0 0 0 0 356
Baylor Genetics 35 17 139 0 0 0 0 0 0 191
Natera, Inc. 2 1 103 58 26 0 0 0 0 190
Revvity Omics, Revvity 20 29 79 0 0 0 0 0 0 128
GeneReviews 17 0 0 0 0 0 0 0 110 127
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 38 14 60 3 1 0 0 0 0 116
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 76 38 0 0 0 0 0 0 0 114
Neuberg Centre For Genomic Medicine, NCGM 22 27 59 0 0 0 0 0 0 108
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 46 45 12 0 0 0 0 0 0 103
Myriad Genetics, Inc. 0 99 1 0 0 0 0 0 0 100
3billion, Medical Genetics 27 26 16 7 0 0 0 0 0 76
Mendelics 41 15 4 3 9 0 0 0 0 72
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 18 5 47 0 0 0 0 0 0 70
Counsyl 2 39 24 0 1 0 0 0 0 66
Institute of Human Genetics, University of Leipzig Medical Center 21 17 23 2 2 0 0 0 0 65
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 15 11 36 0 0 0 0 0 0 62
Solve-RD Consortium 1 58 2 0 0 0 0 0 0 61
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 38 11 0 0 0 0 0 0 0 49
MGZ Medical Genetics Center 7 22 19 0 0 0 0 0 0 48
PreventionGenetics, part of Exact Sciences 0 3 3 32 6 0 0 0 0 44
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 8 21 0 4 0 0 0 0 43
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 32 11 0 0 0 0 0 0 0 43
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 12 12 12 0 0 0 0 0 0 36
Genomics England Pilot Project, Genomics England 9 26 0 0 0 0 0 0 0 35
SIB Swiss Institute of Bioinformatics 7 19 7 1 0 0 0 0 0 34
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 2 21 1 0 0 0 0 0 33
Molecular Genetics, Royal Melbourne Hospital 9 10 12 0 2 0 0 0 0 33
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 31 31
Juno Genomics, Hangzhou Juno Genomics, Inc 14 6 9 0 0 0 0 0 0 29
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 29 0 0 0 0 0 0 29
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 5 11 0 1 0 0 0 0 26
New York Genome Center 2 1 22 0 0 0 0 0 0 25
Centogene AG - the Rare Disease Company 6 10 7 0 0 0 0 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 7 15 0 0 0 0 23
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 19 0 3 0 0 0 0 0 0 22
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 14 7 0 0 0 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 1 9 10 0 0 0 0 22
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 10 9 0 0 0 0 21
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 7 2 0 0 0 0 1 0 21
Undiagnosed Diseases Network, NIH 11 5 4 0 0 0 0 0 0 20
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 20 20
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 19 19
Institute of Human Genetics, University of Goettingen 1 8 8 0 0 0 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 1 4 9 0 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 3 8 0 0 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 7 7 1 0 0 0 0 0 0 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 4 8 0 0 0 0 0 0 15
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 4 8 0 1 0 0 0 0 15
DASA 8 6 0 0 0 0 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 3 0 0 0 0 0 0 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 4 1 0 0 0 1 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 6 0 0 0 0 0 0 0 13
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 4 4 5 0 0 0 0 0 0 13
Athena Diagnostics 0 0 0 0 12 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 3 3 6 0 0 0 0 0 0 12
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 9 2 1 0 0 0 0 0 0 12
Institute of Human Genetics, University Hospital of Duesseldorf 7 2 2 0 0 0 0 0 0 11
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 4 6 0 0 0 0 0 0 11
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 4 6 1 0 0 0 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 1 1 7 0 1 0 0 0 0 10
Department of Biochemistry, Faculty of Medicine, University of Khartoum 9 1 0 0 0 0 0 0 0 10
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 5 4 0 0 0 0 0 0 9
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 4 0 0 0 0 0 0 0 9
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 7 2 0 0 0 0 0 0 0 9
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 8 0 0 0 9
Human Genetics Bochum, Ruhr University Bochum 1 5 3 0 0 0 0 0 0 9
MVZ Medizinische Genetik Mainz 1 1 7 0 0 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 6 0 0 0 0 0 0 0 8
Neurogenetics of motion laboratory, Montreal Neurological Institute 8 0 0 0 0 0 0 0 0 8
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 4 1 0 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 0 0 0 8
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 6 1 1 0 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 3 0 0 0 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 4 0 0 0 0 0 0 7
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 5 2 0 0 0 0 0 0 0 7
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 2 2 1 0 0 0 0 0 7
UCLA Clinical Genomics Center, UCLA 1 5 0 0 0 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 3 0 0 0 0 0 0 6
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 4 1 0 0 0 0 0 0 6
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 5 0 1 0 0 0 0 0 0 6
Breda Genetics srl 0 2 4 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 2 0 0 0 0 0 0 6
Lifecell International Pvt. Ltd 4 2 0 0 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 3 1 1 0 0 0 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 2 1 0 0 0 0 0 0 5
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 0 0 5
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 1 4 0 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 0 0 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 0 0 0 0 0 0 5
Section for Clinical Neurogenetics, University of Tübingen 3 2 0 0 0 0 0 0 0 5
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 4 1 0 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 2 0 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 1 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 1 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 1 0 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 3 1 0 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 0 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 1 1 0 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 3 0 1 0 0 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 1 2 0 0 0 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 1 0 3 0 0 0 0 0 0 4
Progenie Molecular 2 0 2 0 0 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 2 0 0 0 0 0 0 3
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 2 0 0 0 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 1 0 2 0 0 0 0 0 0 3
TIDEX, University of British Columbia 0 3 0 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 0 0 0 3
Genetic Diseases Diagnostic Center, Koc University Hospital 0 3 0 0 0 0 0 0 0 3
Genesis Genome Database 0 0 3 0 0 0 0 0 0 3
The William Harvey Research Institute, Queen Mary University 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 2 0 0 0 0 0 0 3
Suma Genomics 1 2 0 0 0 0 0 0 0 3
Houlden Lab, UCL Institute of Neurology 3 0 0 0 0 0 0 0 0 3
Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck 3 0 0 0 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 1 0 0 0 0 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 0 0 0 3
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 2 1 0 0 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 3 0 0 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 2 1 0 0 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 0 2
Inherited Neuropathy Consortium 0 2 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 2 0 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 0 0 0 2
Genesis Genoma Lab, Genesis Genoma Lab 0 0 1 1 0 0 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 1 1 0 0 0 0 0 0 2
CMT Laboratory, Bogazici University 0 0 2 0 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 0 0 0 2
Department of Neurology, The Affiliated Hospital of Zunyi Medical University 2 0 0 0 0 0 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 0 0 0 0 0 0 2
Igenomix - Part of Vitrolife Group, Igenomix 0 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 1 0 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 1 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 0 0 0 1
Paisan-Ruiz Laboratory, Icahn School of Medicine at Mount Sinai 1 0 0 0 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 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 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 1 0 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 1
New Leaf Center 0 1 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 0 1
Department of Neurology and Neurophysiology, Children's University Hospital 0 0 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 0 1
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 0 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 1
Department of Neurology, The Third Xiangya Hospital, Central South University 1 0 0 0 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 1 0 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Division of Pediatric Nephrology, Shenzhen Children's Hospital 0 1 0 0 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 0 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 0 1
Dr Sami Ulus Medical Genetics Department, Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 1 0 0 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 0 0 1
Laboratory of Genomics, College of Natural Sciences, Kyungpook National University 1 0 0 0 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 0 0 0 1
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Vanderbilt University Medical Center 0 1 0 0 0 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 0 0 0 1
Novin Medical Genetic Laboratory 1 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 0 0 0 1
Department of Next Generation Sequencing, Access to Genome 0 0 1 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 0 0 0 1
Wenzhou Central Hospital 0 1 0 0 0 0 0 0 0 1
Department of Neurology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 0 1
Human Genetics, University of Luebeck 1 0 0 0 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 0 0 0 1
Genetic Medicine Clinic, University Of Washington Medical Center 0 0 0 0 0 0 0 0 1 1
Uffe Birk Jensen Lab, Aarhus University Hospital 0 1 0 0 0 0 0 0 0 1
Laboratory of Human Molecular Genetics, Federal University of Alagoas 1 0 0 0 0 0 0 0 0 1
Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM) 0 1 0 0 0 0 0 0 0 1
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa 0 1 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 1 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, AJA University of Medical Sciences 1 0 0 0 0 0 0 0 0 1

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