ClinVar Miner

Variants studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
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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 likely pathogenic, low penetrance pathogenic, low penetrance not provided total
2548 1462 12138 10993 1472 1 1 185 27081

Gene and significance breakdown #

Total genes and gene combinations: 221
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance pathogenic, low penetrance not provided total
DSP 478 112 2105 1827 218 0 0 2 4235
RTEL1, RTEL1-TNFRSF6B 145 154 1272 1775 103 0 0 1 3295
TERT 90 61 1449 1489 53 0 0 15 2964
EVC2 210 158 436 957 73 0 0 0 1741
EVC 171 147 419 898 112 0 0 0 1634
CTC1 83 19 729 495 53 0 0 0 1332
PARN 48 27 373 320 25 0 0 1 788
IFT122 41 38 385 270 42 0 0 5 723
WDR35 35 27 358 195 55 0 0 1 626
ROGDI 31 17 258 271 32 0 0 0 582
ACD 4 1 327 215 17 0 0 3 563
TRPS1 111 20 203 170 39 0 0 34 557
EDA 194 76 55 175 39 0 0 1 514
WNT10A 96 34 112 287 15 1 1 2 491
TINF2 12 6 272 150 22 0 0 16 449
DKC1 20 15 132 259 26 0 0 40 443
CTSC 72 19 134 176 22 0 0 0 400
WDR19 10 39 232 42 23 0 0 2 338
RMRP 38 115 192 6 7 0 0 0 332
LOC110806306, TERC 18 3 273 3 2 0 0 0 293
GJA1 35 17 157 72 22 0 0 0 285
EDAR, RANBP2 56 22 109 34 48 0 0 2 262
NFKBIA 8 1 100 105 41 0 0 0 248
LOC110806263, TERT 9 5 104 132 3 0 0 0 246
BRAF 37 41 64 29 2 0 0 20 167
GJB2 53 34 39 16 26 0 0 1 161
PKP1 6 2 94 14 38 0 0 0 154
NECTIN1 4 2 130 9 7 0 0 0 151
EVC2, LOC126806961 11 15 44 65 11 0 0 0 138
NHP2 0 0 78 53 8 0 0 0 138
CDH3 11 3 91 7 22 0 0 0 134
RIPK4 5 1 77 17 30 0 0 0 129
GJB6 4 2 72 38 16 0 0 0 119
WRAP53 5 4 88 25 6 0 0 4 119
ERCC2 26 41 37 6 6 0 0 0 111
EDARADD 9 5 59 12 27 0 0 3 110
TP63 22 7 58 20 0 0 0 0 107
MAP2K2 10 13 65 11 11 0 0 4 101
DCLRE1B 4 0 60 31 4 0 0 0 98
COL11A1 11 11 42 5 22 0 0 5 95
SETBP1 13 7 35 22 10 0 0 2 87
ACD, LOC130059224 0 1 63 22 0 0 0 0 85
CDH1 10 6 56 10 4 0 0 1 85
IFT43 1 9 42 15 3 0 0 1 69
CTSC, LOC130006572 8 1 24 33 1 0 0 0 62
MAP2K1 14 17 29 4 2 0 0 7 61
NOP10 1 0 41 15 7 0 0 2 61
KRAS 19 6 25 11 0 0 0 0 59
TERC 2 2 52 0 1 0 0 0 56
MSX1 11 0 25 11 5 0 0 0 52
PIGL 5 4 36 2 5 0 0 0 49
CTC1, PFAS 6 1 24 17 0 0 0 0 48
NHP2, RMND5B 3 0 29 12 3 0 0 3 45
KCTD1 10 2 27 3 0 0 0 0 41
LOC130055403, TINF2 0 1 28 11 2 0 0 0 39
ERCC3 5 15 17 1 1 0 0 0 38
IKBKG 26 6 7 1 0 0 0 1 38
LOC130055494, NFKBIA 0 0 16 14 1 0 0 0 29
LOC130055497, NFKBIA 4 0 13 11 2 0 0 0 29
ANTXR1 6 6 2 1 17 0 0 0 28
EVC, LOC129992144 6 12 5 6 0 0 0 0 26
IFT122, LOC126806810 1 0 16 9 2 0 0 0 25
LOC129992137, MSX1 1 0 5 10 8 0 0 0 23
PNPLA6 4 1 4 0 13 0 0 1 23
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 20 0 1 0 0 0 21
RTEL1 9 5 5 0 0 0 0 0 19
CTNND1, TMX2-CTNND1 9 5 4 0 1 0 0 0 18
EVC2, LOC126806962 0 1 5 12 0 0 0 0 18
AARS1 4 2 3 8 0 0 0 0 17
TSPEAR 10 2 7 1 0 0 0 0 17
EVC, EVC2 9 0 2 4 3 0 0 0 15
AP1B1 10 1 1 0 2 0 0 0 14
KRT14 4 3 0 1 5 0 0 0 13
NECTIN4 8 1 3 0 0 0 0 1 13
IFT122, LOC129937552 1 2 5 3 1 0 0 1 11
LOC130055404, TINF2 0 0 5 1 5 0 0 0 11
MPLKIP 6 2 3 0 0 0 0 0 11
CTC1, TRI-AAT4-1 0 0 9 1 0 0 0 0 10
MAP2K1, SNAPC5 0 0 10 0 0 0 0 0 10
CTC1, TRS-AGA2-6 0 0 9 0 0 0 0 0 9
DLX3 5 1 1 0 3 0 0 0 9
IFT52 6 0 2 0 1 0 0 0 9
LOC129933186, WDR35 0 0 6 2 1 0 0 0 9
LOC129935618, WNT10A 0 0 7 2 0 0 0 0 9
SLC25A24 2 1 4 1 2 0 0 0 9
GRHL2 2 0 2 1 3 0 0 0 8
GTF2H5 5 1 2 0 0 0 0 0 8
HOXC13 3 0 3 0 1 0 0 0 7
LOC129935619, WNT10A 0 0 6 1 0 0 0 0 7
TARS1 3 0 0 1 3 0 0 0 7
TP53, WRAP53 0 0 2 0 5 0 0 0 7
ABCA5 1 3 1 1 0 0 0 0 6
CTC1, TRT-AGT1-2 0 0 6 0 0 0 0 0 6
LOC130055496, NFKBIA 0 0 1 4 1 0 0 0 6
RNF113A 3 1 3 0 0 0 0 0 6
TWIST2 6 0 0 0 0 0 0 0 6
BRAF, LOC126860202 0 0 4 1 0 0 0 0 5
ENOSF1, TYMS 5 0 1 0 0 0 0 0 5
KREMEN1 1 0 3 0 1 0 0 0 5
LOC129935625, WNT10A 0 0 2 3 0 0 0 0 5
MARS1 1 0 4 0 0 0 0 0 5
POT1 0 2 3 0 0 0 0 0 5
CTC1, LOC130060237, PFAS 0 0 0 4 0 0 0 0 4
LOC126653398, TSPEAR 0 2 2 0 0 0 0 0 4
LOC130056750, NOP10 0 0 4 0 0 0 0 0 4
MECOM, TERC 0 4 0 0 0 0 0 0 4
OTOF 1 3 0 0 0 0 0 0 4
ZCCHC8 0 2 2 0 0 0 0 0 4
AHRR, BRD9, CEP72, EXOC3, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 2 0 1 0 0 0 0 0 3
COL11A1, LOC126805814 0 0 2 1 0 0 0 0 3
CST6 1 0 2 0 0 0 0 0 3
G6PD, IKBKG, LOC108281126 0 0 2 1 0 0 0 0 3
GTF2E2 2 0 0 0 1 0 0 0 3
KDF1 1 0 0 1 1 0 0 0 3
KRT85 2 0 1 1 1 0 0 0 3
LOC110120802, LOC130000981, LOC130000982, TRPS1 3 0 0 0 0 0 0 0 3
LOC110806263, LOC110806264, LOC123493259, TERT 0 0 3 0 0 0 0 0 3
LOC129998295, MPLKIP 2 1 0 0 0 0 0 0 3
LOC130063193, MAP2K2 0 0 3 0 0 0 0 0 3
NOP10, SLC12A6 0 0 0 0 3 0 0 0 3
RTEL1, TNFRSF6B 1 0 2 0 0 0 0 0 3
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, LINC00536, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, TRPS1, UTP23 1 0 1 0 0 0 0 0 2
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 0 0 2 0 0 0 0 0 2
CCDC138, EDAR, LOC126806303, LOC129388897, LOC129388898, LOC129934529, RANBP2 0 0 2 0 0 0 0 0 2
CYP26C1 1 2 1 0 0 0 0 0 2
DSP, LOC110121274 2 0 0 0 0 0 0 0 2
EDAR 1 0 1 0 0 0 0 0 2
EVC, LOC129992148 0 0 1 1 0 0 0 0 2
IFT140 2 0 0 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 0 0 2
KRTAP10-1, TSPEAR 0 0 0 0 2 0 0 0 2
LOC110120802, TRPS1 0 0 0 2 0 0 0 0 2
LOC110806264, TERT 0 0 0 1 1 0 0 0 2
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 0 0 2
NLRP5 0 0 2 0 0 0 0 0 2
TGM1, TINF2 0 0 2 1 0 0 0 1 2
TYMS 1 0 1 0 0 0 0 0 2
AARD, ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, EIF3H, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, LINC00536, LRATD2, MAL2, MED30, MRPL13, MTBP, MTSS1, MYC, NDUFB9, NSMCE2, NTAQ1, PCAT1, POU5F1B, PVT1, RAD21, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, TRPS1, UTP23, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 0 0 1
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 1
ABCC3, ABI3, ACSF2, ANKRD40, ATP5MC1, B4GALNT2, CACNA1G, CALCOCO2, CHAD, COL1A1, DLX3, DLX4, EME1, EPN3, FAM117A, GIP, GNGT2, HOXB13, IGF2BP1, ITGA3, KAT7, LRRC59, LUC7L3, MRPL27, MYCBPAP, NGFR, NXPH3, PDK2, PHB1, PHOSPHO1, PPP1R9B, PRAC1, PRAC2, RSAD1, SAMD14, SGCA, SLC35B1, SNF8, SPATA20, SPOP, TAC4, TMEM92, TRQ-TTG1-1, TTLL6, UBE2Z, XYLT2, ZNF652 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM223A, FAM223B, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IL9R, IRAK1, L1CAM, LAGE3, LOC101927830, LOC105373383, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC107181288, LOC107522039, LOC107838685, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC111365170, LOC111589209, LOC113875014, LOC113875015, LOC113875016, LOC116309161, LOC116309162, LOC121627985, LOC121627986, LOC121853071, LOC121853072, LOC125467793, LOC125467794, LOC125467795, LOC126863349, LOC129929050, LOC129929051, LOC129929052, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC130068882, LOC130068883, LOC130068884, LOC130068885, LOC130068886, LOC130068887, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, LOC130068898, MECP2, MIR1184-1, MIR1184-2, MIR1184-3, MIR3202-1, MIR3202-2, MIR664B, MIR6858, MIR718, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNA3, PLXNB3, PNCK, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SNORA36A, SNORA56, SNORA70, SPRY3, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VAMP7, VBP1 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 0 0 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 1
ACADL, CPS1, KANSL1L, LANCL1, MAP2, MYL1, RPE, UNC80 0 0 1 0 0 0 0 0 1
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BACC1, BCL6B, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MIR195, MIR497HG, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 0 1
ACTRT3, GPR160, LRRC31, LRRC34, LRRIQ4, MYNN, PHC3, PRKCI, SAMD7, SEC62, SKIL, TERC 0 0 1 0 0 0 0 0 1
ACTRT3, LOC110806306, TERC 1 0 0 0 0 0 0 0 1
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, MGRN1, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 0 0 1 0 0 0 0 0 1
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 1 0 0 0 0 0 0 0 1
AP4B1, DCLRE1B 0 0 0 0 1 0 0 0 1
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 1 0 0 0 0 0 1
B4GALT7, FAM153A, N4BP3, NHP2, PROP1, RMND5B 0 0 1 0 0 0 0 0 1
BAZ1A, CFL2, FAM177A1, NFKBIA, PPP2R3C, PRORP, PSMA6, SRP54 0 0 1 0 0 0 0 0 1
BFAR, NPIPA2, NPIPA3, PARN, PLA2G10 0 0 0 0 0 0 0 1 1
BMP6, DSP, SNRNP48 0 0 1 0 0 0 0 0 1
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 0 1
C22orf31, KREMEN1 0 0 0 1 0 0 0 0 1
C4orf50, CRMP1, CYTL1, EVC, EVC2, JAKMIP1, LINC01587, MSX1, STK32B, WFS1 1 0 0 0 0 0 0 0 1
CCDC107, RMRP 1 1 0 0 0 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 1 0 0 0 0 0 0 0 1
CCDC39 0 0 1 0 0 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 0 0 1 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B 1 0 0 0 0 0 0 0 1
CILK1 1 0 0 0 0 0 0 0 1
CIROP 1 0 0 0 0 0 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 0 0 1 0 0 0 0 0 1
CLPTM1L, TERT 0 0 1 0 0 0 0 0 1
CLUAP1 0 0 1 0 0 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 0 0 1
CRYL1, GJB6 0 0 1 0 0 0 0 0 1
CTAG1A, IKBKG 1 0 0 0 0 0 0 0 1
CTSC, GRM5, TYR 0 0 1 0 0 0 0 0 1
DKC1, LOC130068886 1 0 1 1 1 0 0 1 1
EDA2R 0 0 1 0 0 0 0 0 1
EDAR, LOC126806303, LOC126806304, RANBP2 1 0 0 0 0 0 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 0 0 1
EIF3H, LINC00536, TRPS1 1 0 0 0 0 0 0 0 1
ERBB4, IKZF2, SPAG16 0 0 1 0 0 0 0 0 1
ERCC2, KLC3 0 0 0 1 0 0 0 0 1
EVC2, LINC01587, STK32B 1 0 0 0 0 0 0 0 1
EXT1 0 0 0 1 0 0 0 0 1
EXT1, LOC130001002 0 0 0 1 0 0 0 0 1
GJA1, TBC1D32 0 0 1 0 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 0 0 1
GLI3 0 0 1 0 0 0 0 0 1
GMPR2, TINF2 0 0 1 0 0 0 0 0 1
IFT122, MBD4 0 0 1 0 0 0 0 0 1
IFT122, MBD4, RHO 0 0 1 0 0 0 0 0 1
IKBKG, LOC107988021 1 0 0 0 0 0 0 0 1
INPP4A 0 1 0 0 0 0 0 0 1
KRAS, LOC130007561 0 0 1 0 0 0 0 0 1
KRT74 1 0 0 0 0 0 0 0 1
KRTAP10-3, TSPEAR 0 0 0 0 1 0 0 0 1
LOC112577470, SLC25A24 0 0 1 0 0 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 0 0 1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 1
LOC129935620, LOC129935621, LOC129935622, LOC129935623, LOC129935624, LOC129935625, WNT10A 1 0 0 0 0 0 0 0 1
LOC129937871, TERC 1 0 0 0 0 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 0 0 1
LOC130060173, TP53, WRAP53 0 0 0 0 1 0 0 0 1
LOC130060173, WRAP53 0 0 1 0 0 0 0 0 1
LOC130060313, PIGL 0 0 1 0 0 0 0 0 1
LOC130068621, NDUFA1, RNF113A 0 0 0 0 1 0 0 0 1
LOC130068621, RNF113A 0 0 1 0 0 0 0 0 1
MATN3, WDR35 0 0 0 1 1 0 0 0 1
MCOLN1, PNPLA6 0 0 0 1 0 0 0 0 1
N4BP3, NHP2, PROP1, RMND5B 0 0 1 0 0 0 0 0 1
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13 0 0 1 0 0 0 0 0 1
NPM1 0 0 1 0 0 0 0 0 1
PCDH12, RNF14 0 0 1 0 0 0 0 0 1
PLK1 0 0 1 0 0 0 0 0 1
PTPN11 0 0 1 0 0 0 0 0 1
RIT1 0 0 1 0 0 0 0 0 1
SLC6A18, SLC6A19, TERT 0 0 1 0 0 0 0 0 1
SPAG17 0 1 0 0 0 0 0 0 1
STMN2 1 0 0 0 0 0 0 0 1
TRAF3IP1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 221
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1737 415 7820 9949 951 0 1 0 20873
Illumina Laboratory Services, Illumina 5 5 1557 305 502 0 0 0 2362
Fulgent Genetics, Fulgent Genetics 150 353 1472 249 36 0 0 0 2259
Ambry Genetics 8 15 682 942 26 0 0 0 1673
All of Us Research Program, National Institutes of Health 29 47 1089 403 21 0 0 0 1589
Natera, Inc. 28 37 450 140 78 0 0 0 733
OMIM 481 0 5 0 0 0 0 0 486
Counsyl 19 171 177 8 1 0 0 0 376
Sema4, Sema4 0 4 168 135 18 0 0 0 325
Baylor Genetics 33 82 208 1 0 0 0 0 324
Genome-Nilou Lab 0 4 10 4 214 0 0 0 231
GeneReviews 28 0 0 0 0 0 0 145 173
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 64 71 3 0 0 0 0 0 138
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 73 46 0 0 0 0 0 0 119
Myriad Genetics, Inc. 2 91 1 0 0 0 0 0 94
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 39 9 29 5 0 0 0 0 82
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 18 23 30 1 0 0 0 0 72
3billion, Medical Genetics 27 14 11 8 0 0 0 0 60
Mendelics 7 15 11 7 19 0 0 0 59
Neuberg Centre For Genomic Medicine, NCGM 10 12 37 0 0 0 0 0 59
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 4 40 3 0 0 0 0 55
Genetic Services Laboratory, University of Chicago 13 10 25 1 0 0 0 0 49
Juno Genomics, Hangzhou Juno Genomics, Inc 22 15 6 0 0 0 0 0 43
Johns Hopkins Genomics, Johns Hopkins University 5 3 26 8 0 0 0 0 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 7 22 2 1 0 0 0 38
Institute of Human Genetics, University of Leipzig Medical Center 16 10 7 3 0 0 0 0 36
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 34 1 0 0 0 0 36
PreventionGenetics, part of Exact Sciences 2 0 7 22 3 0 0 0 34
Revvity Omics, Revvity 7 2 20 0 0 0 0 0 29
Pars Genome Lab 0 0 0 1 28 0 0 0 29
New York Genome Center 2 4 18 0 0 0 0 0 24
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 22 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 3 13 0 0 0 21
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 14 7 0 0 0 21
Bone Marrow Failure laboratory, Queen Mary University London 8 4 7 0 0 0 0 0 19
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 5 9 0 0 0 0 0 18
Service de Génétique Moléculaire, Hôpital Robert Debré 0 14 3 1 0 0 0 0 18
GenomeConnect - CFC International 0 0 0 0 0 0 0 18 18
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 5 7 0 0 0 0 0 18
University of Washington Center for Mendelian Genomics, University of Washington 10 5 2 0 0 0 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 6 1 0 0 0 0 0 16
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 14 2 0 0 0 0 0 0 16
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine 5 6 4 0 0 1 0 0 16
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 6 1 0 0 0 0 0 14
Medical Molecular Genetics Department, National Research Center 13 0 0 0 0 0 0 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 4 1 0 0 0 0 0 13
Department of Prosthodontics, Peking University School and Hospital of Stomatology 8 3 1 0 0 0 0 0 12
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 10 0 0 0 0 0 12
ClinGen RASopathy Variant Curation Expert Panel 10 2 0 0 0 0 0 0 12
Molecular Genetics, Royal Melbourne Hospital 1 4 3 3 1 0 0 0 12
MGZ Medical Genetics Center 4 4 3 0 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 3 4 4 0 0 0 0 0 11
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 10 1 0 0 0 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 11 11
Rare Disease Group, Clinical Genetics, Karolinska Institutet 3 1 7 0 0 0 0 0 10
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 10 0 0 0 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 3 0 0 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 3 3 2 1 0 0 0 0 9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 8 0 0 0 0 0 0 9
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 7 1 0 0 0 0 9
MVZ Medizinische Genetik Mainz 2 3 4 0 0 0 0 0 9
Institute of Human Genetics, University of Goettingen 1 3 4 0 0 0 0 0 8
Undiagnosed Diseases Network, NIH 4 3 1 0 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 3 0 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 0 8 8
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 1 5 0 0 0 0 0 8
Godley laboratory, The University of Chicago 0 5 3 0 0 0 0 0 8
Division of Human Genetics, Children's Hospital of Philadelphia 4 3 0 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 4 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 2 0 0 0 0 0 7
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 4 0 0 0 0 0 7
Genomics England Pilot Project, Genomics England 1 6 0 0 0 0 0 0 7
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 5 0 0 0 0 0 0 6
DASA 5 1 0 0 0 0 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 2 0 0 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 1 0 1 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 0 0 5
Dan Cohn Lab, University Of California Los Angeles 5 0 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 3 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 3 0 0 0 0 0 5
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 1 3 0 0 0 0 0 5
King Laboratory, University of Washington 1 3 0 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 1 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 1 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 1 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 2 1 1 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 4
Degerman lab, Umeå University 3 1 0 0 0 0 0 0 4
Bertuch Lab, Baylor College of Medicine 4 0 0 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 1 0 1 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 2 0 0 0 0 0 4
Shieh Lab, University of California, San Francisco 3 1 0 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 4 4
Istituto di Genetica Molecolare, National Research Council of Italy 4 0 0 0 0 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 1 1 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 1 0 0 0 0 0 3
Institute of Human Genetics, University of Ulm 3 0 0 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 0 3
Blueprint Genetics 1 1 1 0 0 0 0 0 3
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 3 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 0 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 0 2 0 0 0 0 0 3
Stem Cell Engineering Center, Hunan Guangxiu Hospital 3 0 0 0 0 0 0 0 3
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 0 2 1 0 0 0 0 0 3
KTest Genetics, KTest 2 1 0 0 0 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 0 0 0 0 0 0 3
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 2 0 0 0 0 0 3
Narges Medical Genetic and Prenatal Diagnosis Lab 0 1 2 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 0 0 2
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 2 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 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 0 2
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 2 0 0 0 0 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 2 0 0 0 0 0 0 0 2
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 0 0 2
State Key Laboratory Of Oral Diseases, Sichuan University 2 0 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 1 0 0 0 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 1 0 0 0 0 0 2
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1 1 0 0 0 0 0 0 2
MNM Diagnostics 2 0 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 0 0 2
Gemeinschaftspraxis fuer Humangenetik Dresden 2 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 2
Pediatric Department 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 0 2
Shenzhen Maternity and Child Healthcare Hospital, Institute of Maternal and Child Medicine Research 2 0 0 0 0 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 0 2 0 0 0 2
Royal Medical Services, Bahrain Defence Force Hospital 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 1 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Department of Immunology, Genetics and Pathology, Uppsala University 1 0 0 0 0 0 0 0 1
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 0 1 1
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 0 0 1
Molecular Metabolic laboratory, Sheba Medical Center Tel-Hashomer 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 0 0 0 0 1 0 0 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 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 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 1 0 0 0 0 0 0 0 1
Faculty of Allied and Health Sciences, Imperial College of Business Studies 1 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 0 0 1
Clinical Genomics Unit, Sheba Medical Center 1 0 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 1 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 1
Corniche Hospital, Abu Dhabi, Abu Dhabi Health Services Co - SEHA 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 0 1
Medical Genetics Research Center, Mashhad University of Medical Sciences 0 1 0 0 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 0 0 1
ADYU, Molecular Biology and Genetic Lab, Adiyaman University 1 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 0 0 0 0 0 1
Obstetrics And Gynecology, 901th Hospital Of The Joint Service Of The People's Liberation Army 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 0 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 0 0 1

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