ClinVar Miner

Variants studied for carbohydrate metabolism disease

Included ClinVar conditions (318):
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 other not provided total
3009 1763 7358 1657 1138 12 8 50 14053

Gene and significance breakdown #

Total genes and gene combinations: 285
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
GAA 104 139 320 94 45 0 3 0 634
AGL 74 97 264 55 36 0 0 1 484
SLC37A4 30 34 242 134 14 0 0 0 445
GALT 234 73 69 8 35 0 0 0 338
ARSB 47 81 160 18 15 0 0 0 309
BTD 200 59 88 7 15 0 0 1 289
AGXT 182 39 77 15 5 0 0 0 270
ABCC8 37 103 71 2 4 0 0 0 205
GNE 27 51 99 27 12 1 0 0 202
FKTN 16 23 143 20 11 0 0 0 200
FKRP 30 37 101 30 13 0 0 0 199
PRKAG2 5 0 132 45 15 0 0 0 188
MAN2B1 24 52 103 15 10 0 0 0 183
PMM2 44 56 84 12 5 0 0 0 175
PIGO 14 5 132 17 13 0 0 1 174
CHST3 17 1 96 33 20 0 0 0 165
LAMP2 36 8 74 41 12 0 0 0 165
PYGM 34 49 79 8 12 0 0 2 163
IDUA 45 46 60 12 11 0 2 0 162
ANO5 29 17 93 9 12 1 0 3 157
NAGLU 28 56 78 7 6 0 0 0 157
HLCS 17 21 97 15 20 0 0 0 156
POMGNT1, TSPAN1 19 70 64 10 5 0 0 0 155
PIGN 22 12 89 19 12 0 0 0 152
GLB1 30 51 65 10 3 0 0 1 141
SGSH 36 36 71 5 10 0 0 0 139
PIGG 7 0 86 25 18 0 0 0 136
HGSNAT 25 21 78 8 7 0 0 0 129
POMT2 19 6 78 11 14 0 0 3 129
POMT1 21 6 63 18 21 0 0 0 127
G6PC 27 34 58 11 6 0 0 1 126
SLC2A1 33 7 44 24 12 0 0 2 118
GALNS 34 11 47 13 12 0 0 0 110
DAG1 7 1 71 19 10 0 0 0 107
HOGA1 32 15 55 5 7 0 0 0 103
PC 20 7 68 5 8 0 0 1 103
GRHPR 29 36 39 4 3 0 0 1 101
NGLY1 20 5 52 17 6 0 0 0 98
SI 8 3 70 13 6 0 0 0 97
AGA 16 42 39 4 6 0 0 0 93
ALG13 2 0 52 19 19 0 0 0 92
POMGNT2 4 1 63 14 10 0 0 0 92
SLC35C1 4 3 64 17 7 0 0 0 91
DOLK 6 1 66 16 7 0 0 0 90
EXT1 75 8 6 0 2 0 0 0 90
PHKB 7 2 72 10 9 0 0 0 90
MOGS 5 1 67 8 14 0 0 0 88
RFT1 7 1 61 12 7 0 0 0 88
ALG6 10 20 47 11 6 0 0 0 87
ALDOB 20 29 32 10 2 0 0 1 85
DLD 14 20 39 6 11 0 0 0 85
CRPPA 26 6 34 6 12 0 0 0 83
GYS2 14 5 51 7 11 0 0 0 80
B4GALT1 1 0 63 11 3 0 0 0 78
GBE1 28 6 35 8 8 0 0 2 78
SLC2A2 20 2 35 12 8 0 0 0 76
ST3GAL5 7 3 52 10 8 0 0 0 76
ALG9 4 0 64 3 4 0 0 0 75
SLC5A1 3 0 51 18 3 0 0 0 75
ALG12 9 2 48 12 5 0 0 0 74
IDUA, SLC26A1 11 7 16 33 7 0 2 0 74
PYGL 23 3 40 7 14 0 0 0 74
LARGE1 5 1 49 16 2 0 0 0 73
LCT 3 7 44 9 9 0 0 0 72
ALG2 4 0 56 10 7 0 0 0 70
MESP2 7 12 36 11 7 0 0 0 70
GNS 6 0 46 11 7 0 0 0 69
PDHX 11 2 29 11 15 0 0 1 68
SRD5A3 6 0 48 10 5 0 0 0 68
COG6 8 0 42 11 9 0 0 1 67
MPI 8 20 30 6 8 0 0 1 66
COG5 5 1 48 8 5 0 0 0 64
GMPPB 17 5 33 8 3 0 0 0 63
MANBA 12 1 30 10 11 0 0 1 63
TUSC3 0 0 47 12 2 0 0 0 61
B3GALNT2 12 9 32 10 4 0 0 0 60
KCTD7 8 7 30 16 2 0 0 0 60
KL 1 1 41 14 4 0 0 0 60
EXT2 42 2 10 2 7 0 0 0 58
PCK1 3 0 37 11 7 0 0 0 56
PHKA2 25 12 14 1 7 0 0 1 56
GUSB 21 3 22 6 5 0 1 0 55
GYS1 4 1 40 9 1 0 0 1 55
RBCK1 12 0 37 4 2 0 0 0 55
DPAGT1 15 0 36 4 1 0 0 0 54
FBP1 15 4 23 9 5 0 0 1 54
KCNJ11 10 16 27 0 5 0 0 0 54
GALK1 8 11 32 4 3 0 0 0 53
LIAS 5 1 37 5 6 0 0 0 53
PDHA1 36 8 9 0 0 0 0 0 53
PFKM 12 2 28 6 7 0 0 1 53
PGM1 14 0 22 13 9 0 0 1 52
COG7 3 2 40 4 2 0 0 0 51
PKLR 14 4 31 0 3 0 0 0 51
COG4 5 1 34 4 7 0 0 0 49
GFPT1 12 4 24 5 5 0 0 0 48
PIGA 7 4 25 5 7 0 0 0 48
DLAT 2 1 31 11 5 0 0 0 47
FUCA1 17 1 20 7 5 0 0 0 47
MGAT2 9 0 37 0 1 0 0 0 47
IDS 34 5 7 0 0 0 0 0 46
RXYLT1 9 5 23 5 7 0 0 0 46
FGF23 5 1 22 15 3 0 0 0 45
PDP1 2 0 38 2 3 0 0 0 45
POMK 7 0 21 11 6 0 0 0 44
GALNT3 14 0 24 4 1 0 0 0 43
IDS, LOC106050102 33 6 1 1 4 0 0 0 43
COG1 2 0 33 2 5 0 0 0 42
PHKA1 7 1 17 14 4 0 0 0 42
PHKG2 11 1 28 1 4 0 0 0 42
GALE 12 2 27 1 2 0 0 0 41
NEU1 21 1 14 5 0 0 0 0 40
SLC35A2 11 3 12 8 6 0 0 0 40
NAGA 5 4 23 6 3 0 0 0 39
ALG3 10 2 25 2 1 0 0 0 38
DDOST, PINK1 0 0 19 12 7 0 0 0 38
CTSA 9 0 21 4 4 0 0 0 37
PIGV 6 2 27 3 0 0 0 0 37
ALG8 7 1 24 4 5 0 0 0 35
DDOST 2 1 29 1 2 0 0 2 35
PGM3 9 0 22 2 3 0 0 0 35
TALDO1 4 0 25 4 0 0 0 1 34
TRAPPC2 0 0 16 12 6 0 0 0 34
B4GAT1 2 1 25 2 4 0 0 0 33
DPM1 4 0 24 6 1 0 0 0 32
DLL3 8 1 12 5 6 0 0 0 31
DPM2 2 0 22 3 6 0 0 0 31
ENO3 2 0 16 8 5 0 0 1 31
POMGNT1 2 8 18 3 1 0 0 0 31
HYAL1 3 0 21 5 2 0 0 0 30
SLC5A2 9 2 19 0 0 0 0 0 30
LDHA 1 0 20 3 5 0 0 0 29
TPI1 8 0 13 5 3 0 0 0 29
CHST14 11 2 10 2 2 0 0 3 28
ALDOA, LOC112694756 2 0 23 1 2 0 0 0 27
ATP6V0A2 12 1 8 1 6 0 0 0 27
PDHB 2 0 16 1 8 0 0 0 27
SLC35A3 5 0 14 6 2 0 0 0 27
ALG1 10 8 6 2 4 0 0 0 26
SEC23B 12 1 8 1 4 0 0 0 26
COG8 3 1 18 2 1 0 0 0 25
KHK 0 0 17 4 2 2 0 0 25
PIGL 4 0 21 0 0 0 0 0 25
CGREF1, KHK 0 0 16 7 1 0 0 0 24
DBNL, PGAM2 4 1 15 3 3 0 0 1 23
LDHB 0 0 15 3 1 4 0 0 23
MPDU1 4 3 13 3 3 0 0 0 23
B3GALT6 13 0 7 1 1 0 0 0 22
GLUD1 10 1 6 0 5 0 0 0 22
PIGT 10 3 7 2 1 0 0 0 22
ALG14 2 1 11 5 2 0 0 0 21
SLC35A1 4 0 15 1 1 0 0 0 21
ADNP, DPM1 6 0 9 4 2 0 0 0 20
DLAT, PIH1D2 1 0 13 3 3 0 0 0 20
RPIA 3 0 12 3 1 0 0 0 19
TMEM165 4 0 11 2 3 0 0 0 19
ALG11 4 0 10 3 3 0 0 0 18
CHSY1 6 0 6 0 6 0 0 0 18
GYG1 8 2 6 1 2 0 0 0 18
ALG11, UTP14C 2 0 9 1 5 0 0 0 17
B4GALT7 7 1 5 1 2 0 0 3 17
FTL, GYS1 0 0 9 5 2 0 0 0 16
PGAP3 14 1 1 0 0 0 0 0 16
PGK1 14 0 2 0 0 0 0 0 16
APRT, GALNS 0 0 0 9 6 0 0 0 15
C16orf58, SLC5A2 1 0 13 1 0 0 0 0 15
CCDC40, GAA 0 0 0 6 7 0 0 0 13
B3GLCT 6 0 4 0 2 0 0 0 12
COG5, DUS4L 0 1 9 2 0 0 0 0 12
GCK 10 1 1 0 0 0 0 0 12
NAGA, WBP2NL 0 0 7 2 3 0 0 0 12
DPM3 2 0 9 1 1 0 0 1 11
SLC35D1 7 0 4 0 0 0 0 0 11
APIP, PDHX 0 0 4 0 6 0 0 0 10
CCDC189, PHKG2 0 0 8 2 0 0 0 0 10
COG2 3 0 5 0 2 0 0 0 10
CTSA, NEURL2 0 0 6 3 1 0 0 0 10
B3GALNT2, TBCE 1 1 7 0 0 0 0 0 9
BTD, HACL1 0 0 8 1 1 0 0 0 9
COL2A1 9 0 1 0 0 0 0 0 9
DSE 2 0 4 1 2 0 0 0 9
GALK1, ITGB4 0 0 4 1 4 0 0 0 9
GALNS, TRAPPC2L 2 2 3 2 0 0 0 0 9
GPI 8 1 0 0 0 0 0 0 9
LFNG 3 0 4 1 1 0 0 0 9
LOC100996842, MPDU1 1 0 6 2 0 0 0 1 9
PIGW 3 0 6 0 0 0 0 0 9
B3GAT3 2 0 3 0 3 0 0 0 8
CA5A 6 0 1 0 1 0 0 0 8
GK 8 0 0 0 0 0 0 0 8
GLB1, TMPPE 1 1 4 0 2 0 0 0 8
HADH 5 0 3 0 0 0 0 0 8
COG5, HBP1 0 0 6 1 0 0 0 0 7
DOP1A, PGM3 3 1 3 0 1 0 0 0 7
DPAGT1, HMBS 0 0 3 1 3 0 0 1 7
GLYCTK 3 1 2 0 0 0 0 3 7
LIAS, LOC112939935 0 0 5 2 0 0 0 0 7
NUS1 2 0 6 0 0 0 0 0 7
POFUT1 3 0 1 1 2 0 0 0 7
RARS2, SLC35A1 0 0 1 3 3 0 0 0 7
SLC39A8 6 0 1 0 0 0 0 0 7
STT3B 1 0 3 0 2 0 0 1 7
DNAAF2, MGAT2 0 0 0 2 5 0 0 0 6
GNPTAB 6 0 0 0 0 0 0 0 6
HCN3, PKLR 0 0 5 0 1 0 0 0 6
INSR 2 0 4 0 0 0 0 0 6
POGLUT1 6 0 0 0 0 0 0 0 6
RPN2 0 0 5 1 0 0 0 0 6
ADAM10 5 0 0 0 0 0 0 0 5
CAD 5 1 0 0 0 0 0 0 5
COG8, PDF 0 0 3 2 0 0 0 0 5
KIF22 4 0 1 0 0 0 0 0 5
LOC112449713, PHKB 0 0 5 0 0 0 0 0 5
PGAP2 5 0 0 0 0 0 0 0 5
PIGM 1 0 3 0 1 0 0 0 5
SSR4 5 1 0 0 0 0 0 0 5
ABCC8, LOC110121471 2 0 1 1 0 0 0 0 4
COG1, FAM104A 0 0 4 0 0 0 0 0 4
DOLK, NUP188 0 0 2 2 0 0 0 0 4
FUT8 4 0 0 0 0 0 0 0 4
HK1 3 1 0 0 0 0 0 0 4
PIGG, ZNF721 0 0 4 0 0 0 0 0 4
SGSH, SLC26A11 0 2 2 0 0 0 0 0 4
TMEM199 4 0 0 0 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 0 3
ALG11, ATP7B 0 0 0 0 3 0 0 0 3
KRT5 3 0 0 0 0 0 0 0 3
TKT 3 0 0 0 0 0 0 1 3
ALG1, EEF2KMT 0 1 1 0 0 0 0 0 2
ARHGEF39, ARID3C, C9orf131, CA9, CCDC107, CCL19, CCL21, CCL27, CD72, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM166B, FAM205A, FAM214B, FANCG, GALT, GBA2, IL11RA, MSMP, NPR2, PHF24, PIGO, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, STOML2, TESK1, TLN1, TPM2, UNC13B, VCP 1 0 1 0 0 0 0 0 2
ATP6V1A 2 0 0 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 2
BPGM 2 0 0 0 0 0 0 0 2
CCDC115 2 0 0 0 0 0 0 0 2
COG8, NIP7 0 0 1 1 0 0 0 0 2
CTSA, PLTP 0 0 2 0 0 0 0 0 2
DCXR 0 0 0 0 0 2 0 0 2
GALE, HMGCL 0 0 0 1 1 0 0 0 2
HES7 1 1 0 0 0 0 0 0 2
MAGT1 2 0 0 0 0 0 0 0 2
MCM6 0 0 2 0 0 0 0 0 2
NRL, PCK2 1 0 0 0 0 0 0 1 2
RIPPLY2 2 0 0 0 0 0 0 0 2
SHPK 0 0 0 0 0 2 0 0 2
SLC16A1 2 0 0 0 0 0 0 0 2
A2ML1, ACRBP, ACSM4, ADIPOR2, AICDA, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf4, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FAM138D, FAM66C, FAM90A1, FBXL14, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, KLRG1, LAG3, LINC00937, LINC00940, LINC00942, LINC02417, LINC02443, LINC02449, LINC02455, LINC02827, LOC100128253, LOC100507424, LOC101929384, LOC102723544, LOC105369595, LOC105369632, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108942766, LOC109461484, LOC112136100, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939935, LOC574538, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, M6PR, MFAP5, MIR141, MIR200C, MIR200CHG, MIR3649, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PHC1, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SNORA120, SPSB2, TAPBPL, TEAD4, TEX52, THCAT155, TIGAR, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 1 0 0 0 0 0 0 0 1
AATF, ACACA, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW 0 0 1 0 0 0 0 0 1
ABAT, PMM2, TMEM186 1 0 0 0 0 0 0 0 1
ABCC8, KCNJ11 0 0 0 0 1 0 0 0 1
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LOC100130449, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 0 0 0 1
AK1, C9orf16, CDK9, CFAP157, CIZ1, DPM2, ENG, FAM102A, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 0 1
ALG11, ATP7B, UTP14C 0 0 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 0 0 1
ATXN2 0 1 0 0 0 0 0 0 1
B3GALT6, SDF4, TNFRSF4 0 0 1 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 1
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 0 0 1
CLN3 0 0 1 0 0 0 0 0 1
COL11A2 0 0 1 0 0 0 0 0 1
CXorf21, DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 0 0 0 0 0 0 0 1 1
DCX 1 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 1
DOP1A, ME1, PGM3, PRSS35, RWDD2A, SNAP91, TPBG, UBE3D 1 0 0 0 0 0 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 0 0 1
FKRP, STRN4 1 0 0 0 0 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 0 0 1
GALT, IL11RA 1 0 0 0 0 0 0 0 1
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 0 0 1
GLUD1, SHLD2 0 0 0 0 1 0 0 0 1
HGSNAT, POMK 0 0 1 0 0 0 0 0 1
LIAS, LOC111365176, LOC112939935, RPL9, UGDH 0 0 1 0 0 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, PRKAG2 0 0 1 0 0 0 0 0 1
MOK 0 0 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 1
PIGB 0 0 1 0 0 0 0 0 1
PIGN, RELCH, TNFRSF11A 0 0 1 0 0 0 0 0 1
PIGY 1 0 0 0 0 0 0 0 1
PIGY, PYURF 1 0 0 0 0 0 0 0 1
SLC16A12 1 0 0 0 0 0 0 0 1
SQSTM1 1 0 0 0 0 0 0 0 1
STT3A 1 0 0 0 0 0 0 0 1
TREH 1 0 0 0 0 0 0 0 1
VPS33A 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 761 190 2806 609 600 0 8 0 4973
Illumina Clinical Services Laboratory,Illumina 65 24 3329 810 420 0 0 0 4648
Counsyl 204 1172 915 225 7 0 1 0 2524
OMIM 1256 0 3 0 2 10 0 0 1271
Research and Development, ARUP Laboratories 417 3 12 1 45 0 0 0 478
Clinical Biochemistry Laboratory,Health Services Laboratory 238 0 79 0 0 0 0 0 317
Fulgent Genetics,Fulgent Genetics 95 37 128 1 0 0 0 0 261
Integrated Genetics/Laboratory Corporation of America 201 44 1 1 7 0 0 0 254
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 42 99 98 1 5 0 0 0 245
GeneReviews 203 0 0 0 32 0 0 0 235
Genomic Research Center,Shahid Beheshti University of Medical Sciences 37 28 62 1 0 0 0 0 128
Genetic Services Laboratory, University of Chicago 51 20 27 0 0 0 0 0 98
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 14 1 2 10 59 0 0 0 86
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 33 1 0 0 0 0 0 72
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 64 0 0 0 0 0 0 65
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 4 41 0 0 0 0 1 47
GenomeConnect, ClinGen 0 0 0 0 0 0 0 42 42
Baylor Genetics 25 1 15 0 0 0 0 0 41
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 12 2 2 7 14 0 0 0 37
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 8 2 25 0 0 0 0 0 35
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 0 0 32
Athena Diagnostics Inc 6 0 0 0 24 0 0 0 30
Institute of Human Genetics,Klinikum rechts der Isar 19 7 0 0 0 0 0 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 22 0 0 0 0 0 23
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 9 9 2 0 0 0 0 0 20
Phosphorus, Inc. 0 0 1 1 18 0 0 0 20
SIB Swiss Institute of Bioinformatics 2 13 1 0 4 0 0 0 20
Division of Human Genetics,Children's Hospital of Philadelphia 11 5 2 0 0 0 0 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 6 1 1 5 4 0 0 0 17
Department of Genetics,Sultan Qaboos University Hospital, Oman 7 5 5 0 0 0 0 0 17
SingHealth Duke-NUS Institute of Precision Medicine 3 7 6 0 0 0 0 0 16
Knight Diagnostic Laboratories,Oregon Health and Sciences University 9 6 0 0 0 0 0 0 15
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 6 8 0 1 0 0 0 0 15
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 5 8 0 0 0 0 0 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 7 2 1 0 0 0 0 13
Center of Genomic medicine, Geneva,University Hospital of Geneva 11 2 0 0 0 0 0 0 13
Undiagnosed Diseases Network,NIH 5 6 2 0 0 0 0 0 13
Broad Institute Rare Disease Group,Broad Institute 5 2 6 0 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 11 1 0 0 0 0 0 0 12
Ege University Pediatric Genetics,Ege University 4 0 8 0 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 6 3 2 0 0 0 0 0 11
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 0 10
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 9 0 0 0 0 0 0 0 9
Institute for Medical Genetics and Human Genetics,Charité - Universitätsmedizin Berlin 9 0 0 0 0 0 0 0 9
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 4 0 0 2 3 0 0 0 9
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 6 0 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 0 8
Medical Molecular Genetics,National Research Centre 8 0 0 0 0 0 0 0 8
Molecular Diagnostic Laboratory,Shanghai Children's Medical Center 8 0 0 0 0 0 0 0 8
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 4 4 0 0 0 0 0 0 8
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine 8 0 0 0 0 0 0 0 8
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 3 4 0 0 0 0 0 0 7
Mendelics 4 2 1 0 0 0 0 0 7
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 7 0 0 0 0 0 0 0 7
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 7 0 0 0 0 0 0 7
Department of Pediatrics, Division of Medical Genetics,Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 0 0 6
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 5 0 0 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 1 4 0 0 0 0 0 0 5
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 4 1 0 0 0 0 0 0 5
GenePathDx,Causeway Health Care Private Ltd 3 2 0 0 0 0 0 0 5
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 4 1 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 3 0 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 3 0 0 0 0 2 0 0 5
HFI Laboratory at Boston University,Boston University 4 0 0 0 0 0 0 0 4
GeneDx 1 0 1 0 2 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 1 0 0 0 0 0 0 4
Center for Genetic Medicine Research,Children's National Medical Center 0 4 0 0 0 0 0 0 4
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics,University of Washington 4 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 3 1 0 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 1 2 0 0 0 0 0 0 3
Sema4,Sema4 2 0 1 0 0 0 0 0 3
DLE - Diagnosticos Laboratoriais Especializados 3 0 0 0 0 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 1 0 0 0 0 0 3
Universitäts-Kinderspital Zürich 0 0 0 0 0 0 0 3 3
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 0 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 3 0 0 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 3 0 0 0 0 0 0 0 3
Genetic Diseases Diagnostic Center,Koc University Hospital 0 3 0 0 0 0 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 0 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 2 2
Dobyns Lab,Seattle Children's Research Institute 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 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 0 2
Genomic Medicine Lab,University of Southampton 2 0 0 0 0 0 0 0 2
Center for Human Genetics,University of Leuven 2 0 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 1 0 0 0 0 0 0 2
Medical Genetics Laboratory,Bambino Gesù Children's Hospital 0 2 0 0 0 0 0 0 2
Clinical genetics,CHU Grenoble-Alpes 2 0 0 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 0 0 0 0 0 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 0 2 0 0 0 0 0 0 2
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 1 1 0 0 0 0 0 0 2
Center for Human Genetics, Inc 1 0 0 0 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 0 0 1
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics; Faculty of Medical Sciences - University of Campinas 0 0 0 0 0 0 0 1 1
Blueprint Genetics, 0 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 0 0 1
Institute of Human Genetics,Uniklinik RWTH Aachen 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 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
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 0 0 0 0 0 1
Neuromuscular disorders lab,University of Helsinki 1 0 0 0 0 0 0 0 1
Center for Statistical Genetics,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
NeuroCure Clinial Research Center,Charite Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 1
GENETICS INSTITUTE,National university of Colombia 1 0 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center.,Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 1 0 0 0 0 0 0 0 1
Jacobi Internal Medicine Residency Program,Jacobi Medical Center 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 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
Marseille Medical Genetics, U1251,Aix Marseille University, Inserm 0 1 0 0 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 0 0 0 1 0 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 0 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 1
Department of Medical Genetics,Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 0 0 0 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 1

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