ClinVar Miner

Variants studied for hereditary spastic paraplegia

Included ClinVar conditions (133):
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 affects association risk factor not provided total
2086 951 8935 7871 1373 8 1 1 175 20131

Gene and significance breakdown #

Total genes and gene combinations: 234
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
SPG11 396 113 1222 1258 70 1 0 0 93 2919
KIF1A 85 60 977 1285 114 0 0 0 5 2369
TECPR2 72 34 251 851 54 0 0 0 3 1188
PNPLA6 63 26 508 537 69 0 0 0 3 1132
SPAST 426 112 319 182 50 0 0 1 12 1025
ATP13A2 39 20 372 368 46 0 0 0 1 829
AP5Z1 30 20 475 304 70 0 0 0 1 809
SPG7 125 47 305 222 38 0 0 0 10 657
ZFYVE26 33 158 258 40 51 0 0 0 1 490
ALDH18A1 23 13 278 155 17 0 0 0 3 475
ATL1 52 39 219 135 38 0 0 0 12 446
KIF1C 13 6 183 186 41 0 0 0 0 401
WASHC5 22 13 193 133 35 0 0 0 5 370
DDHD1 19 2 185 114 26 0 0 0 0 335
REEP1 50 20 146 84 31 0 0 0 0 321
TFG 4 1 164 135 16 0 0 0 1 319
AP4M1 29 17 130 140 19 0 0 0 0 317
AP4B1 36 10 148 86 15 0 0 0 0 277
CCT5 1 1 148 82 39 0 0 0 0 263
CPT1C 7 4 118 114 19 0 0 0 0 260
MAG 5 2 102 112 18 0 0 0 0 236
DDHD2 26 10 109 92 12 0 0 0 0 235
NIPA1 4 0 113 56 48 0 0 0 0 213
PLP1, RAB9B 38 12 62 80 23 0 0 0 0 212
AMPD2 5 1 90 90 16 0 0 0 1 200
IBA57 13 7 86 69 9 0 0 0 0 181
SACS 10 7 88 36 13 0 0 0 0 153
KIF5A 28 14 71 30 19 0 0 0 1 145
ENTPD1 9 2 70 59 9 0 0 0 1 143
NT5C2 18 9 43 68 8 0 0 0 1 141
VPS37A 1 0 75 54 15 0 0 0 0 140
C19orf12 7 3 66 39 5 0 0 0 1 113
SPART 8 3 84 14 5 0 0 0 1 112
USP8 0 0 53 37 19 0 0 0 0 109
FA2H 16 18 56 11 17 0 0 0 0 108
ERLIN1 3 1 47 50 5 0 0 0 0 101
PI4KA 17 11 22 27 26 0 0 0 0 100
SPG21 11 5 59 28 7 0 0 0 0 98
REEP2 4 3 30 48 7 0 0 0 1 93
KIF1A, LOC126806583 1 0 31 52 6 0 0 0 1 86
CYP7B1 27 9 45 4 5 0 0 0 2 83
AMPD2, LOC126805822 1 3 31 40 8 0 0 0 0 82
ZFYVE27 1 0 35 10 34 0 0 0 0 75
SETX 0 0 47 18 6 0 0 0 0 71
BSCL2, HNRNPUL2-BSCL2 4 1 49 11 4 0 0 0 4 70
AP4E1 5 3 29 8 22 0 0 0 1 61
CYP2U1 18 9 30 3 3 0 0 0 0 58
L1CAM 8 8 22 14 5 0 0 0 0 57
GBA2 13 9 28 4 5 0 0 0 1 56
LOC130059818, SPG7 8 1 34 13 2 0 0 0 0 55
KIDINS220 7 6 32 4 3 0 0 0 2 54
LOC130056709, NIPA1 1 0 39 15 5 0 0 0 0 54
HSPD1 2 1 28 8 14 0 0 0 0 49
RTN2 5 6 26 10 4 0 0 0 0 49
ARL6IP1 4 1 15 22 6 0 0 0 0 48
LOC130056973, SPG11 6 0 16 25 0 0 0 0 2 48
ALS2 0 0 32 6 3 0 0 0 0 41
POLG 5 3 21 6 6 0 0 0 0 41
KIF1C, LOC126862473 0 1 16 18 5 0 0 0 0 39
KIF1C, LOC126862472 2 0 10 21 6 0 0 0 0 36
CAPN1 19 5 6 0 4 0 0 0 0 33
CNNM2, NT5C2 1 0 16 13 2 0 0 0 0 31
HACE1 14 2 8 0 6 0 0 0 0 30
PGAP1 0 0 21 5 4 0 0 0 0 30
GPT2 10 6 16 0 0 0 0 0 0 29
GJC2 3 1 12 6 2 0 0 0 2 26
LOC126860498, WASHC5 0 0 19 8 3 0 0 0 0 25
USP50, USP8 0 0 14 7 4 0 0 0 0 25
ERLIN2 11 3 9 0 2 0 0 0 0 24
LOC130056519, TECPR2 2 0 11 12 0 0 0 0 0 24
AP4S1 5 4 9 3 4 0 0 0 0 23
FA2H, LOC130059394 6 6 10 0 1 0 0 0 0 21
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 3 3 0 1 0 0 0 1 18
UCHL1 9 2 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
UBAP1 12 2 4 0 0 0 0 0 0 16
AP4B1, DCLRE1B, LOC129931235 1 0 11 2 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
ATL1, MAP4K5 0 0 6 6 1 0 0 0 0 13
PCYT2 5 5 3 0 0 0 0 0 0 13
AMPD2, LOC129931109 0 0 4 7 1 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
AP5Z1, LOC129997861 0 0 3 5 1 0 0 0 0 8
ARL6IP1, LOC130058582 0 0 2 5 1 0 0 0 0 8
DSTYK 2 1 3 0 2 0 0 0 0 8
FARS2, LOC126859565 3 2 5 0 0 0 0 0 1 8
ABHD16A 6 0 1 0 0 0 0 0 0 7
ATP13A2, LOC129929540 0 0 4 3 0 0 0 0 0 7
KPNA3 5 0 2 0 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
HSPD1, LOC129935358 0 0 2 0 3 0 0 0 0 5
KLC2 1 0 1 0 3 0 0 0 0 5
SELENOI 4 0 1 0 0 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
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
CYP2U1, LOC129992929 0 1 1 0 1 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
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
SPTAN1 2 1 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
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
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
BSCL2, GNG3, HNRNPUL2-BSCL2 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
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
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
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
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
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: 198
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 1222 268 6125 7287 852 0 0 0 0 15753
Illumina Laboratory Services, Illumina 2 3 1368 218 364 0 0 0 0 1955
Genome Diagnostics Laboratory, The Hospital for Sick Children 95 79 1071 337 226 0 0 0 0 1808
Genome-Nilou Lab 61 21 215 60 290 0 0 0 0 647
OMIM 365 0 1 0 0 0 0 0 0 366
Paris Brain Institute, Inserm - ICM 352 0 3 1 0 0 0 0 0 356
Fulgent Genetics, Fulgent Genetics 29 17 154 65 8 0 0 0 0 273
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
Myriad Genetics, Inc. 0 99 1 0 0 0 0 0 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 63 36 0 0 0 0 0 0 0 99
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 26 14 52 1 1 0 0 0 0 94
Neuberg Centre For Genomic Medicine, NCGM 12 22 48 0 0 0 0 0 0 82
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
3billion 27 26 16 0 0 0 0 0 0 69
Counsyl 2 39 24 0 1 0 0 0 0 66
Institute of Human Genetics, University of Leipzig Medical Center 19 15 19 2 2 0 0 0 0 57
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 11 8 28 0 0 0 0 0 0 47
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
PreventionGenetics, part of Exact Sciences 0 3 3 27 6 0 0 0 0 39
Genomics England Pilot Project, Genomics England 9 26 0 0 0 0 0 0 0 35
SIB Swiss Institute of Bioinformatics 7 18 8 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 6 12 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 10 0 1 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
New York Genome Center 2 1 20 0 0 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
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
Undiagnosed Diseases Network, NIH 10 2 3 0 0 0 0 0 0 15
Athena Diagnostics 0 0 0 0 14 0 0 0 0 14
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
Genetics and Molecular Pathology, SA Pathology 3 3 6 0 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 1 1 7 0 1 0 0 0 0 10
Institute of Human Genetics, University Hospital of Duesseldorf 7 1 2 0 0 0 0 0 0 10
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 6 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 8 0 1 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
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 4 4 1 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
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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 3 1 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 3 1 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
Progenie Molecular 0 2 2 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 0 0 0 3
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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 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
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
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 2 1 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 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
Institute of Human Genetics, University of Wuerzburg 1 0 1 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
CMT Laboratory, Bogazici University 0 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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
Department of Human Genetics, Hannover Medical School 0 0 2 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
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
Palindrome, Gene Kavoshgaran Aria 1 0 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
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

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.