ClinVar Miner

Variants studied for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
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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
1032 793 4907 2408 825 1 1 8 114 9743

Gene and significance breakdown #

Total genes and gene combinations: 209
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
ACD 3 0 288 190 17 0 0 0 3 498
TSC2 24 14 300 152 3 0 0 0 0 492
VRK1 62 28 148 248 13 0 0 0 1 478
CEP290 83 41 252 61 21 0 0 0 2 450
TSC1 10 7 279 67 86 0 0 0 0 443
CEP41 13 5 228 113 24 0 0 0 0 372
TCTN3 27 8 171 144 13 0 0 0 0 361
TMEM237 25 9 203 113 23 0 0 0 0 356
TMEM231 29 6 159 126 16 0 0 0 0 331
WASHC5 15 9 144 125 30 0 0 0 1 321
AHI1 60 27 174 40 20 0 0 0 0 306
RPGRIP1L 16 28 187 41 17 0 0 0 1 288
CPLANE1 27 21 141 50 6 0 0 0 0 245
PIK3R2 4 4 76 106 50 0 0 0 2 238
CC2D2A 49 18 123 11 21 0 0 0 0 215
AMPD2 12 6 92 90 16 0 0 0 1 212
NPHP3, NPHP3-ACAD11 16 12 141 40 3 0 0 0 0 211
RARS2 28 106 65 20 21 0 0 0 0 208
EXOSC3 28 16 64 105 10 0 0 0 2 206
VANGL1 1 0 132 23 24 0 0 0 0 180
ALX4 9 1 75 19 73 0 0 0 0 177
MSX2 9 0 79 39 30 0 0 0 0 157
NPHP1 12 38 86 16 4 0 0 0 0 155
LAMA1 32 18 65 7 21 0 0 0 2 144
SEPSECS 5 14 90 10 18 0 0 0 0 131
TMEM138 13 2 71 42 6 0 0 0 0 126
MTOR 22 15 59 15 8 0 0 0 2 120
POLR3B 18 21 49 9 11 0 0 0 42 115
TSEN54 19 12 60 7 17 0 0 0 4 109
AKT3 5 7 28 45 14 0 0 0 3 98
CASK 51 32 13 3 0 0 0 0 0 95
DCLRE1B 0 0 62 29 4 0 0 0 0 95
MKS1 7 40 44 3 5 0 0 0 1 94
TMEM216 6 25 48 12 13 0 0 0 1 94
AMPD2, LOC126805822 4 7 31 40 8 0 0 0 0 85
TSEN2 8 9 51 4 12 0 0 0 1 80
NOTCH3 15 6 17 19 20 0 0 0 9 79
ACD, LOC130059224 0 1 56 19 0 0 0 0 0 75
OPHN1 16 14 30 5 0 0 0 0 2 67
TSEN34 1 1 39 7 17 0 0 0 1 65
OFD1 13 5 19 23 3 0 0 0 0 62
LOC130004408, TCTN3 7 3 22 26 4 0 0 0 0 60
PDE6D 8 2 20 28 1 0 0 0 0 58
PCLO 2 1 40 4 7 0 0 0 0 54
PIK3CA 25 13 9 2 2 0 0 0 1 47
LOC100287944, POLR3B 0 2 30 0 5 0 0 0 10 42
CCDC22 2 1 30 2 3 0 0 0 2 37
LOC130063979, PIK3R2 0 0 14 18 5 0 0 0 0 37
SNX14 14 8 12 1 0 0 0 0 2 36
PTF1A 4 1 23 6 4 0 0 0 0 35
TELO2 8 3 15 1 8 0 0 0 0 33
VPS53 2 9 8 0 11 0 0 0 0 29
TOE1 6 18 7 0 0 0 0 0 0 27
LOC126860498, WASHC5 1 1 14 7 3 0 0 0 1 25
CASQ2, VANGL1 0 0 0 11 13 0 0 0 0 24
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 20 4 0 0 0 0 0 24
LOC129936171, TSEN2 0 0 12 6 3 0 0 0 0 21
TBC1D23 8 3 8 1 2 0 0 0 2 21
LOC130059440, TMEM231 3 1 8 6 1 0 0 0 0 19
CCND2 6 4 4 1 2 0 0 0 7 16
CEP290, RLIG1 3 6 7 0 0 0 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 0 0 0 16
AP1S2 11 3 1 0 0 0 0 0 1 15
EXOSC3, LOC130001814 2 0 3 9 1 0 0 0 0 15
KIF14 2 1 6 2 3 0 0 0 0 14
PPIL1 5 10 4 0 0 0 0 0 0 14
BRF1 4 1 7 1 0 0 0 0 0 13
CHMP1A 2 3 8 0 0 0 0 0 0 12
SLC25A46 11 1 0 0 0 0 0 0 0 12
AMPD2, LOC129931109 0 0 4 7 1 0 0 0 0 11
ATXN7L3, UBTF 1 1 9 0 0 0 0 0 1 10
B4GALT1 3 0 4 2 2 0 0 0 0 10
CLP1 1 2 8 0 0 0 0 0 0 10
EXOSC8 2 2 5 1 1 0 0 0 1 10
MINPP1 5 5 4 0 0 0 0 0 0 10
SLC39A8 3 2 4 0 1 0 0 0 0 10
TUBA1A 7 2 0 0 0 0 0 0 0 9
LOC126807125, SLC39A8 1 2 5 0 0 0 0 0 0 8
RAD9B 2 6 0 0 0 0 0 0 0 8
RARS2, SLC35A1 0 0 0 5 4 0 0 0 0 8
COASY 3 2 1 0 2 0 0 0 0 7
DPYSL5 2 0 6 0 0 0 0 0 0 7
FRMD4A 1 1 1 2 1 0 0 0 0 6
PARD3 2 0 0 0 0 0 0 4 0 6
VPS35L 5 0 0 1 0 0 0 0 0 6
AMBRA1 0 0 5 0 0 0 0 0 0 5
EXOSC9 5 2 0 0 0 0 0 0 0 5
LOC112533671, TSEN54 1 0 2 1 2 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 0 0 0 5
VPS51 3 0 2 0 0 0 0 0 0 5
DKC1 0 0 2 0 0 0 0 0 2 4
LOC126862457, VPS53 0 0 0 0 4 0 0 0 0 4
LOC129992331, SEPSECS 0 0 3 1 0 0 0 0 0 4
LOC130063980, PIK3R2 0 0 2 2 0 0 0 0 0 4
MUTYH, TOE1 0 0 1 2 1 0 0 0 0 4
PTEN 4 0 0 0 0 0 0 0 0 4
TBXT 1 0 3 0 0 0 0 0 0 4
VANGL2 0 0 2 0 2 0 0 0 0 4
CEP290, LOC129390514 1 0 1 1 0 0 0 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 0 0 0 3
LOC126807125, LOC129992876, SLC39A8 3 0 0 0 0 0 0 0 0 3
LOC126860990, MINPP1 2 1 2 0 0 0 0 0 0 3
LOC129935846, PDE6D 0 0 1 2 0 0 0 0 0 3
LOC129992330, SEPSECS 1 1 1 1 0 0 0 0 0 3
LOC130056407, VRK1 0 0 2 1 0 0 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 0 0 0 3
PRDM13 3 0 0 0 0 0 0 0 0 3
TSEN15 3 1 1 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 0 0 2
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 0 0 0 2
AKT3, SDCCAG8 1 0 1 0 0 0 0 0 0 2
ARMC9 0 2 0 0 0 0 0 0 0 2
DLC1 0 0 0 0 0 0 0 2 0 2
EXOSC8, LOC130009581 0 0 2 0 0 0 0 0 0 2
FUZ 0 0 0 1 0 0 1 0 0 2
HEATR5B 0 2 0 0 0 0 0 0 0 2
HYLS1, PUS3 0 2 0 0 0 0 0 0 0 2
INTS1 0 0 2 0 0 0 0 0 0 2
LAMA1, LOC101927188 1 1 0 0 0 0 0 0 0 2
LOC126862456, VPS53 0 1 0 0 1 0 0 0 0 2
LOC126863212, OFD1 0 0 2 0 0 0 0 0 0 2
LOC126863256, WDR45 1 0 1 0 0 0 0 0 0 2
LOC129992876, SLC39A8 1 1 1 0 0 0 0 0 0 2
LOC130058210, TSC2 0 0 2 0 0 0 0 0 0 2
PIBF1 0 2 0 0 0 0 0 0 0 2
POLR3A 0 0 0 0 0 0 0 0 2 2
AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATXN1L, B3GNT9, BEAN1, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH16, CDH3, CDH5, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, COG4, COG8, CTCF, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, DYNC1LI2, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, GFOD2, HAS3, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LOC400541, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR328, MTSS2, NAE1, NFAT5, NFATC3, NIP7, NOB1, NOL3, NQO1, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PRMT7, PSKH1, PSMB10, RANBP10, RIPOR1, RRAD, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNTB2, ST3GAL2, TANGO6, TAT, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TSNAXIP1, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF19, ZNF23, ZNF821 0 0 1 0 0 0 0 0 0 1
ABAT, ABCA3, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADCY9, AHSP, ALDOA, ALG1, AMDHD2, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATP2A1, ATP6V0C, ATXN2L, BAIAP3, BCAR4, BCKDK, BCL7C, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRICD5, C16orf54, C16orf82, C16orf89, C16orf90, C16orf92, C16orf96, CACNG3, CARHSP1, CASKIN1, CCDC154, CCNF, CCP110, CD19, CD2BP2, CDIP1, CDIPT, CDR2, CEMP1, CEP20, CFAP119, CHP2, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLEC19A, CLN3, CLUAP1, COG7, COQ7, CORO1A, CORO7, CORO7-PAM16, COX6A2, CPPED1, CRAMP1, CREBBP, CRYM, CTF1, DCTN5, DCTPP1, DCUN1D3, DEXI, DNAAF8, DNAH3, DNAJA3, DNASE1, DNASE1L2, DOC2A, E4F1, EARS2, ECI1, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELOB, EME2, EMP2, ERCC4, ERI2, ERN2, FAHD1, FBRS, FBXL19, FLYWCH1, FLYWCH2, FUS, GDE1, GDPD3, GFER, GGA2, GLIS2, GLYR1, GNPTG, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAGH, HAPSTR1, HCFC1R1, HIRIP3, HMOX2, HS3ST2, HS3ST4, HS3ST6, HSD3B7, IFT140, IGFALS, IGSF6, IL21R, IL27, IL32, IL4R, INO80E, IQCK, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JPT2, KAT8, KATNIP, KCTD13, KCTD5, KDM8, KIF22, KNOP1, KRBOX5, KREMEN2, LAT, LCMT1, LDAF1, LITAF, LYRM1, MAPK3, MAPK8IP3, MARF1, MAZ, MEFV, MEIOB, METTL22, METTL9, MGRN1, MIR1225, MIR193B, MIR365A, MLST8, MMP25, MOSMO, MPV17L, MRPS34, MRTFB, MSRB1, MTRNR2L4, MVP, MYH11, MYL11, NAA60, NAGPA, NDE1, NDUFAB1, NDUFB10, NFATC2IP, NHERF2, NLRC3, NME3, NMRAL1, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPW, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUPR1, OR1F1, OR2C1, ORAI3, OTOA, PAGR1, PALB2, PAM16, PAQR4, PARN, PDILT, PDPK1, PDXDC1, PDZD9, PGP, PHKG2, PKD1, PKMYT1, PLA2G10, PLK1, PMM2, POLR3E, PPL, PPP4C, PRKCB, PRM1, PRM2, PRM3, PRR14, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS8, PTX4, PYCARD, PYDC1, QPRT, RAB26, RABEP2, RBBP6, RBFOX1, RMI2, RNF151, RNF40, RNPS1, ROGDI, RPL3L, RPS15A, RPS2, RRN3, RSL1D1, RUSF1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SEZ6L2, SGF29, SH2B1, SHISA9, SLC5A11, SLC5A2, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SNHG9, SNN, SNX29, SOCS1, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYNGR3, SYT17, TAOK2, TBC1D10B, TBC1D24, TBL3, TBX6, TEDC2, TEKT5, TELO2, TFAP4, TGFB1I1, THOC6, THUMPD1, TIGD7, TLCD3B, TMC5, TMC7, TMEM114, TMEM186, TMEM204, TMEM219, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPSAB1, TPSB2, TPSD1, TRAF7, TRAP1, TRIM72, TSC2, TSR3, TUFM, TVP23A, TXNDC11, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCC4, UQCRC2, USP31, USP7, VASN, VKORC1, VPS35L, VWA3A, XPO6, XYLT1, YPEL3, ZC3H7A, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF267, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843, ZP2, ZSCAN10, ZSCAN32 1 0 0 0 0 0 0 0 0 1
ACTN2, AGT, AKT3, ARID4B, ARV1, B3GALNT2, BECN2, C1orf131, C1orf198, CAPN9, CEP170, CHML, CHRM3, COA6, COG2, DISC1, DISC1-IT1, DISC2, EDARADD, EGLN1, ERO1B, EXO1, EXOC8, FAM89A, FH, FMN2, GALNT2, GGPS1, GNG4, GNPAT, GPR137B, GREM2, HEATR1, IRF2BP2, KCNK1, KMO, LGALS8, LINC00184, LINC00582, LINC01132, LINC01139, LINC01347, LINC01348, LINC01354, LINC01737, LINC01744, LINC01745, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927604, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC108004528, LOC110121205, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC111365197, LOC111365208, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC121725076, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122526782, LOC126264117, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129869688, LOC129929020, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090677, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR4427, MIR4428, MIR4671, MIR4677, MIR4753, MT1HL1, MTR, NID1, NTPCR, OPN3, PCNX2, PGBD5, PLD5, RBM34, RGS7, RYR2, SDCCAG8, SIPA1L2, SLC35F3, SNORA14B, SPRTN, TARBP1, TBCE, TOMM20, TRIM67, TSNAX, TSNAX-DISC1, TTC13, WDR64, ZP4 1 0 0 0 0 0 0 0 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CD226, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, GTSCR1, HSBP1L1, KCNG2, LINC00683, LINC00908, LINC01029, LINC01541, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC130062805, LOC130062806, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PTGR3, RBFA, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF516, ZNF516-DT 1 0 0 0 0 0 0 0 0 1
AGBL5, CENPA, CGREF1, CIB4, DPYSL5, EMILIN1, KCNK3, KHK, MAPRE3, OST4, SLC35F6, TMEM214 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
AKT3, AKT3-IT1, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC129388799, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC440742, MIR4677, PLD5, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 0 0 0 0 1
ALPG, ALPI, ALPP, ARMC9, ATG16L1, B3GNT7, C2orf72, CAB39, CHRND, CHRNG, COPS7B, DGKD, DIS3L2, DNAJB3, ECEL1, EFHD1, EIF4E2, GIGYF2, GPR55, HJURP, HTR2B, ITM2C, KCNJ13, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PRSS56, PSMD1, PTMA, SAG, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPP2, TEX44, TIGD1, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 0 0 1 0 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 0 0 0 1
AMPD2, GNAT2 0 0 1 0 0 0 0 0 0 1
APAF1 0 0 1 0 0 0 0 0 0 1
ARMC6, ARRDC2, BORCS8, CCDC124, CERS1, COMP, COPE, CRLF1, CRTC1, DDX49, ELL, FKBP8, GDF1, GDF15, HOMER3, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLHL26, KXD1, LRRC25, LSM4, MAST3, MEF2B, MPV17L2, NR2C2AP, PDE4C, PGPEP1, PIK3R2, RAB3A, REX1BD, RFXANK, RPL18A, SLC25A42, SLC5A5, SSBP4, SUGP2, TMEM161A, TMEM59L, UBA52, UPF1 0 0 1 0 0 0 0 0 0 1
ARSG, PRKAR1A, WIPI1 0 0 0 0 0 1 0 0 0 1
ARX 0 1 0 0 0 0 0 0 0 1
ATOH1 0 0 1 0 0 0 0 0 0 1
ATXN7L3, LOC121587595, UBTF 0 0 1 0 0 0 0 0 0 1
BLTP1 0 1 0 0 0 0 0 0 0 1
BRAF 1 1 0 0 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 0 0 0 1
CASK, DDX3X, GPR34, GPR82, LOC113875025, LOC126863241, LOC130068160, LOC130068161, LOC130068162, LOC130068163, LOC130068164, LOC130068165, LOC130068166, LOC130068167, LOC130068168, LOC130068169, LOC130068170, LOC130068171, LOC130068172, LOC130068173, NYX 1 0 0 0 0 0 0 0 0 1
CASK, LOC130068172, LOC130068173 1 0 0 0 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 0 0 0 1
CDC40 1 1 0 0 0 0 0 0 0 1
CFAP96, UFSP2 1 0 0 0 0 0 0 0 0 1
CHN1 0 1 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 0 0 0 1
CLN5 0 1 0 0 0 0 0 0 0 1
CUL4B 0 1 0 0 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 0 0 0 1
ENTPD1, TCTN3 0 0 1 0 0 0 0 0 0 1
EXOSC1 1 0 0 0 0 0 0 0 0 1
FRMD4A, PRPF18 0 1 0 0 0 0 0 0 0 1
GPHN, PALS1 1 0 0 0 0 0 0 0 0 1
GPKOW 0 0 1 0 0 0 0 0 0 1
GRIN1 0 0 1 0 0 0 0 0 0 1
ITGB1 0 0 0 0 0 0 0 1 0 1
JMJD1C 0 0 1 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 0 1
KMT2D 1 0 0 0 0 0 0 0 0 1
KMT5B 1 0 0 0 0 0 0 0 0 1
LAMA1, LOC112543434 1 0 0 0 0 0 0 0 0 1
LDLR 0 1 0 0 0 0 0 0 0 1
LINC01951, LOC110121041, MIR4634, MSX2 1 0 0 0 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 0 1
LOC121725046, VANGL1 0 0 1 0 0 0 0 0 0 1
LOC124403936, LOC130003663, LOC130003664, PARD3 1 0 0 0 0 0 0 0 0 1
LOC126862307, VPS35L 0 1 0 0 0 0 0 0 0 1
LOC130004261, MINPP1 1 0 0 0 0 0 0 0 0 1
LOC130008660, POLR3B 0 0 1 0 0 0 0 0 0 1
LOC130063807, NOTCH3 0 0 1 0 0 0 0 0 0 1
MAGED2 0 1 0 0 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 0 0 0 1
MID1 1 0 0 0 0 0 0 0 0 1
MIR6795, NOTCH3 0 0 0 0 1 0 0 0 0 1
MT-CYB 0 0 1 0 0 0 0 0 0 1
MTHFR 0 0 0 0 0 0 0 1 0 1
NSMCE2, WASHC5 0 0 1 0 0 0 0 0 0 1
NTHL1, TSC2 0 0 1 0 0 0 0 0 0 1
PCCA 1 0 0 0 0 0 0 0 0 1
PDGFRB 0 1 0 0 0 0 0 0 0 1
PKD1, TSC2 0 0 1 0 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 0 0 0 1
POT1 0 0 1 0 0 0 0 0 0 1
PPP1CB 0 1 0 0 0 0 0 0 0 1
PURA 0 0 1 0 0 0 0 0 0 1
RHEB 0 1 0 0 0 0 0 0 0 1
RIT1 0 1 0 0 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 0 0 0 1
RPGRIP1 0 0 1 0 0 0 0 0 0 1
RPS6 0 0 1 0 0 0 0 0 0 1
SCRIB 0 1 0 0 0 0 0 0 0 1
SETD2 0 1 0 0 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 0 0 1
TERT 1 0 0 0 0 0 0 0 0 1
TINF2 0 0 0 0 0 0 0 0 1 1
TMEM47 0 1 0 0 0 0 0 0 0 1
WDR45 1 0 0 0 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 212
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 223 54 1701 1626 240 0 0 0 0 3844
Illumina Laboratory Services, Illumina 7 3 1434 247 408 0 0 0 0 2098
Fulgent Genetics, Fulgent Genetics 154 139 895 483 21 0 0 0 0 1692
Baylor Genetics 67 157 430 1 0 0 0 0 0 655
OMIM 287 0 1 0 0 0 0 0 0 288
Genome-Nilou Lab 3 6 42 12 211 0 0 0 0 274
Natera, Inc. 3 6 117 29 29 0 0 0 0 184
Revvity Omics, Revvity 22 23 103 1 0 0 0 0 0 149
UW Hindbrain Malformation Research Program, University of Washington 120 3 0 0 0 0 0 0 0 123
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 20 29 39 0 3 0 0 0 0 91
GeneReviews 2 0 0 0 0 0 0 0 88 90
Counsyl 1 33 35 5 0 0 0 0 0 74
New York Genome Center 6 5 56 0 0 0 0 0 0 67
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 6 33 3 1 0 0 0 0 65
Genetic Services Laboratory, University of Chicago 36 13 15 0 0 0 0 0 0 64
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 43 0 0 0 0 0 0 0 62
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 15 12 32 2 1 0 0 0 0 62
Institute of Human Genetics, University of Leipzig Medical Center 17 23 20 1 0 0 0 0 0 61
Centre for Mendelian Genomics, University Medical Centre Ljubljana 23 11 25 0 0 0 0 0 0 59
Mendelics 25 12 3 3 13 0 0 0 0 56
3billion 22 22 9 0 0 0 0 0 0 53
ClinGen Brain Malformations Variant Curation Expert Panel 14 3 10 12 4 0 0 0 0 43
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 4 18 4 0 0 0 0 0 36
Neuberg Centre For Genomic Medicine, NCGM 7 7 19 0 0 0 0 0 0 33
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 3 20 0 0 0 0 0 0 32
University of Washington Center for Mendelian Genomics, University of Washington 0 23 1 0 0 0 0 0 0 24
Myriad Genetics, Inc. 1 18 0 0 0 0 0 0 0 19
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 12 1 0 0 0 0 0 0 18
Dobyns Lab, Seattle Children's Research Institute 12 3 3 0 0 0 0 0 0 18
MGZ Medical Genetics Center 6 4 7 0 0 0 0 0 0 17
Centogene AG - the Rare Disease Company 6 4 7 0 0 0 0 0 0 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 6 0 0 0 0 0 0 0 17
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 17 17
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 4 4 0 0 0 0 0 0 16
Undiagnosed Diseases Network, NIH 9 4 3 0 0 0 0 0 0 16
Yale Center for Mendelian Genomics, Yale University 2 14 0 0 0 0 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 4 4 5 0 0 0 0 0 0 13
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 5 4 0 0 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 7 0 0 0 0 0 0 12
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 11 0 0 0 0 0 0 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 1 1 0 0 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 3 0 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 1 4 5 0 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 8 0 0 0 0 10
Genomic Medicine Lab, University of California San Francisco 3 2 5 0 0 0 0 0 0 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 4 1 0 0 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 3 4 0 2 0 0 0 0 9
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 1 2 6 0 0 0 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 2 2 2 1 2 0 0 0 0 9
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 7 2 0 0 0 0 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 1 2 0 0 0 0 0 0 8
Finnell Lab, Baylor College of Medicine 2 6 0 0 0 0 0 0 0 8
Suma Genomics 4 2 2 0 0 0 0 0 0 8
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 5 0 0 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 4 0 0 0 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 1 3 0 3 0 0 0 0 0 7
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 2 4 0 0 0 0 0 0 7
Beijing Municipal Key Laboratory, Capital Institute of Pediatrics 3 0 0 0 0 0 0 4 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 5 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 4 0 0 0 0 0 0 7
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 2 2 0 0 0 0 0 0 7
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity 6 1 0 0 0 0 0 0 0 7
Genomics England Pilot Project, Genomics England 3 4 0 0 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 0 4 1 1 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 4 0 0 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 3 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 1 0 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 3 0 0 0 0 0 0 0 6
Breda Genetics srl 2 0 4 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 3 0 0 0 0 0 0 6
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 2 1 0 0 0 0 0 0 6
UCLA Clinical Genomics Center, UCLA 1 4 0 0 0 0 0 0 0 5
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 4 0 0 0 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 3 0 0 0 0 0 0 5
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini 0 0 1 0 0 0 0 4 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 5 0 0 0 0 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 2 0 1 0 0 0 0 5
Hongyan Wang Laboratory, Fudan University 0 0 5 0 0 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 0 0 0 5
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 3 1 0 0 0 0 0 0 5
DASA 2 3 0 0 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 5 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 4 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 1 0 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 1 1 2 0 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 2 0 0 0 0 4
Institute of Human Genetics, University of Ulm 4 0 0 0 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 1 2 1 0 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 3 0 0 0 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 1 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 2 1 1 0 0 0 0 0 0 4
Institute for Genomic Medicine, Nationwide Children's Hospital 3 1 0 0 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 0 0 0 4
Laboratory for Cytogenetics and Genome Research, KU Leuven 4 0 0 0 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 2 0 0 0 1 0 0 4
Pars Genome Lab 2 0 1 1 0 0 0 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 4 0 0 0 0 0 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 4 0 0 0 0 0 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 1 0 0 0 0 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 3 0 0 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 0 0 0 3
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg University - CNRS UMR 7104 - Inserm U 964 3 0 0 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 1 0 0 0 0 0 0 3
Medical Genetics Laboratory, Aldo Moro University of Bari 3 0 0 0 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 0 0 0 3
Kids Research, The Children's Hospital at Westmead 0 1 2 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 0 0 0 3
GenomeConnect - CureCADASIL 0 0 0 0 0 0 0 0 3 3
Section for Clinical Neurogenetics, University of Tübingen 1 0 2 0 0 0 0 0 0 3
Genetics Institute, Tel Aviv Sourasky Medical Center 1 2 0 0 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 1 1 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 3 0 0 0 0 0 0 0 0 3
Eurofins-Biomnis 2 1 0 0 0 0 0 0 0 3
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 2 0 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 1 0 0 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 1 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 0 2
Metabolic Research Unit, Children's University Hospital Muenster 2 0 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 0 0 2
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 2 0 0 0 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 0 0 0 2
Heinzen Lab, Columbia University 2 0 0 0 0 0 0 0 0 2
Biochimie-Hormonologie, Robert Debre Hospital 2 0 0 0 0 0 0 0 0 2
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 1 0 0 0 0 0 0 0 2
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 0 2 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 0 0 0 2
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 1 0 0 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 1 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 0 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 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
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 0 0 2
Human Neuroscience, La Sapienza University of Rome 0 1 1 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 0 0 0 2
Institute of Science, Banaras Hindu University 2 0 0 0 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 0 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 0 0 1
Bone Marrow Failure laboratory, Queen Mary University London 0 0 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 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
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 1 0 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 0 0 1
Institute of Reproductive and Child Health, Peking University 0 0 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 0 1
Biological Sciences, International Islamic University, Islamabad 0 1 0 0 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 0 0 0 1
Department of Neonatology, Xingtai People's Hospital 1 0 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 0 0 1
Genetics and Personalized Medicine, Danish Epilepsy Center 0 0 1 0 0 0 0 0 0 1
Developmental Brain Disorders Lab, Seattle Children's Hospital 1 0 0 0 0 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 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
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 0 0 0 0 0 0 1

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