ClinVar Miner

Variants studied for congenital limb malformation

Included ClinVar conditions (336):
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 association pathogenic, low penetrance risk factor not provided total
5676 2863 21183 19328 4315 1 2 1 154 50942

Gene and significance breakdown #

Total genes and gene combinations: 428
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance risk factor not provided total
BRIP1 412 186 2288 1146 63 0 0 0 4 3988
FANCA 687 305 1301 1720 119 0 0 0 9 3761
NOTCH1 49 25 856 1281 615 0 0 0 9 2576
FBN2 41 55 895 1033 306 0 0 0 6 2223
FANCM 143 20 1227 563 45 0 0 0 0 1996
SLX4 96 29 1194 659 96 0 0 0 3 1987
FANCI 126 132 755 812 64 0 0 0 2 1780
EVC2 187 47 287 918 70 0 0 0 0 1497
CREBBP 267 92 379 588 226 0 0 0 5 1486
RAD51C 146 63 765 375 17 0 0 0 2 1335
EVC 151 44 222 840 69 0 0 0 0 1319
NIPBL 342 116 428 318 74 0 0 0 1 1211
FANCD2, LOC107303338 98 82 383 458 60 0 0 0 1 1002
LRP4 16 11 517 439 57 0 0 0 1 983
EP300 80 39 275 359 218 0 0 0 3 943
AOPEP, FANCC 88 86 408 363 29 0 0 0 3 900
DOK7 68 43 293 463 42 0 0 0 2 894
FANCG 121 80 276 440 15 0 0 0 5 871
PIGO 58 17 481 297 21 0 0 0 1 844
SMC1A 101 61 243 290 75 0 0 0 2 731
MUSK 42 22 231 330 42 0 0 0 3 660
FANCA, ZNF276 111 50 266 279 28 0 0 0 0 657
RAPSN 75 44 184 331 18 0 0 0 1 616
FANCL 64 55 235 267 26 0 0 0 0 610
FANCB 26 4 251 262 71 0 0 0 0 575
FANCE 33 33 241 252 24 0 0 0 0 546
ERCC4 28 4 293 189 27 0 0 0 1 526
FGFR1 31 19 199 249 34 0 0 0 0 519
MEGF8 13 10 218 213 66 0 0 0 0 517
GLI2 22 7 209 193 68 0 0 0 0 496
FANCC 82 61 155 180 11 0 0 0 6 450
CHRND 20 11 255 160 25 0 0 0 0 447
FANCD2, FANCD2OS 35 34 175 202 14 0 0 0 0 438
UBA1 3 0 184 171 88 0 0 0 3 438
BRCA2 90 9 190 85 36 0 0 0 23 420
CHRNA1 19 7 209 145 20 0 0 0 0 381
FANCF 32 16 227 92 21 0 0 0 0 370
NEB 55 192 45 17 47 0 0 0 0 351
SMC3 14 36 121 142 42 0 0 0 1 331
SALL1 52 9 132 108 40 0 0 0 2 321
PALB2 48 9 191 49 8 0 0 0 10 306
MYO19, PIGW 7 2 166 83 7 0 0 0 1 262
SLC35A3 39 5 50 163 7 0 0 0 0 254
DSE 2 0 118 101 14 0 0 0 0 234
MYH3 28 15 120 55 111 0 0 0 0 232
SALL4 34 5 81 76 40 0 0 0 5 227
HDAC8 30 28 54 76 38 0 0 0 0 221
TBX5 74 19 65 13 52 0 0 0 0 215
TPM2 15 11 73 102 21 0 0 0 0 213
RAD21 30 6 74 76 21 0 0 0 2 201
RAB23 19 8 40 132 9 0 0 0 0 189
FGFR2 36 11 73 32 37 0 0 0 4 184
VANGL1 1 0 92 15 58 0 0 0 0 165
NEB, RIF1 30 101 13 1 13 0 0 0 0 158
TP63 23 10 65 24 39 0 0 0 0 155
IRF6 51 16 50 16 12 0 0 0 3 146
CHST14 20 2 66 52 5 0 0 0 3 142
RIPK4 5 1 79 17 31 0 0 0 0 132
BRCA1 56 5 30 22 18 0 0 0 1 130
EOGT 8 4 49 52 18 0 0 0 0 130
PIEZO2 40 27 33 4 25 0 0 0 0 125
CDH3 2 1 91 7 22 0 0 0 0 123
CHSY1 2 0 59 36 28 0 0 0 0 123
FANCA, LOC112486223 18 11 54 50 5 0 0 0 0 123
FANCE, LOC129996245 8 11 68 36 2 0 0 0 0 117
LOC129390903, RAD51C 19 3 67 30 0 0 0 0 1 117
RECQL4 10 20 71 1 13 0 0 0 5 116
EVC2, LOC126806961 11 3 27 60 11 0 0 0 0 112
LMNA 7 4 82 19 1 0 0 0 0 112
FGF9 2 2 67 4 33 0 0 0 0 108
LMBR1 0 0 48 4 55 0 0 0 0 107
TWIST1 46 11 37 10 5 0 0 0 0 106
LOC126860794, NOTCH1 2 0 32 57 20 0 0 0 1 102
MYH8, MYHAS 1 0 76 14 8 0 0 0 0 99
EFTUD2 39 31 23 2 4 0 0 0 0 97
FANCA, LOC130059837 18 13 43 31 1 0 0 0 0 90
VPS33B 17 7 40 8 14 1 0 0 0 87
SYNE1 4 3 25 20 30 0 0 0 2 84
FANCD2 20 7 28 25 3 0 0 0 0 80
MYBPC1 3 2 26 7 45 0 0 0 0 80
DHODH 9 2 42 7 15 0 0 0 0 73
ECEL1 35 16 19 1 4 0 0 0 0 72
FBN2, LOC126807501 0 0 26 39 10 0 0 0 0 70
CHRNG 19 11 38 3 5 0 0 0 0 68
DOCK6 16 10 22 7 12 0 0 0 1 67
PIGV 7 3 49 4 7 0 0 0 0 67
EP300, LOC126863158 7 3 19 22 15 0 0 0 0 64
FANCI, POLG, POLGARF 2 0 29 25 10 0 0 0 0 63
ARHGAP31 3 0 24 6 30 0 0 0 0 62
FANCA, LOC132090450 11 8 13 32 2 0 0 0 0 61
ERCC4, LOC130058543 4 0 36 16 1 0 0 0 0 57
DOK7, LOC129992118 3 2 24 25 3 0 0 0 0 56
LOC126863253, UBA1 0 0 24 20 13 0 0 0 0 56
ZC4H2 26 9 14 0 1 0 0 0 1 49
CHRNG, TIGD1 3 1 37 3 6 0 0 0 1 47
TNNT3 3 3 30 5 12 0 0 0 0 47
GLE1, LOC101929270 6 3 28 3 6 0 0 0 0 42
GDF5 8 2 16 10 19 0 0 0 0 41
BAG2, RAB23 0 0 27 5 6 0 0 0 0 38
CHST14, LOC130056851 4 0 20 13 0 0 0 0 0 36
FANCF, LOC130005443 0 1 24 11 2 0 0 0 0 36
FANCL, VRK2 2 1 20 15 2 0 0 0 0 36
GLE1 2 1 27 2 5 0 0 0 0 36
PGAP3 25 9 7 0 2 0 0 0 0 36
TNNI2 6 7 18 2 7 0 0 0 0 36
DOK7, LOC126806951 1 3 11 18 2 0 0 0 0 35
LOC129998021, TWIST1 11 8 14 3 0 0 0 0 0 34
CHSY1, LOC130058068 4 0 11 12 5 0 0 0 0 32
LGI4 8 10 6 0 8 0 0 0 0 32
TELO2 8 3 14 1 8 0 0 0 0 32
SF3B4 25 0 4 1 0 0 0 0 0 30
​intergenic 27 1 1 0 0 0 0 0 0 29
LOC130061310, RAD51C 2 2 9 18 0 0 0 0 0 29
SCARF2 10 3 3 1 9 0 0 0 0 25
MGP 4 0 10 5 6 0 0 0 0 24
XRCC2 0 3 17 3 4 0 0 0 0 24
DLL4 13 5 5 0 0 0 0 0 0 22
GLDN 8 12 4 0 1 0 0 0 0 22
LIX1L, LOC126805851, RBM8A 5 1 1 15 3 0 2 0 2 22
PGAP2 9 6 7 0 0 0 0 0 0 22
CNTNAP1 10 5 3 2 2 0 0 0 0 21
FANCM, LOC130055524 1 0 12 8 0 0 0 0 0 21
TBX15 2 0 10 3 7 0 0 0 0 21
VIPAS39 11 4 4 2 0 0 0 0 0 21
BRCA1, LOC126862571 8 0 8 2 2 0 0 0 0 20
FKBP10 10 3 6 1 2 0 0 0 0 20
POLR1A 4 1 8 1 7 0 0 0 0 20
DHODH, LOC126862390 1 1 12 3 3 0 0 0 0 19
NOG 15 3 1 0 0 0 0 0 0 19
ASCC1 14 3 2 0 1 0 0 0 0 18
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 0 0 0 18
LOC130003020, NOTCH1 0 0 8 8 3 0 0 0 0 18
MECOM 4 3 11 1 0 0 0 0 0 18
HOXA13, LOC107126288 5 3 6 3 1 0 0 0 0 17
EVC, LOC129992144 5 4 1 6 0 0 0 0 0 16
EVC2, LOC126806962 0 1 3 12 0 0 0 0 0 16
LOC126805851, RBM8A 3 1 0 8 5 0 0 0 1 16
LOC126862494, MYH8, MYHAS 0 0 14 0 3 0 0 0 0 16
RBM8A 5 1 2 7 1 0 0 0 1 16
RYR1 6 10 0 0 0 0 0 0 0 16
FANCF, LOC130005444 0 1 9 4 1 0 0 0 0 15
HDAC4 1 0 6 6 1 0 0 0 1 15
TRPV4 5 0 8 2 0 0 0 0 3 15
ZSWIM6 1 1 10 3 0 0 0 0 2 15
BRD4 5 3 7 0 0 0 0 0 0 14
KIF14 2 1 6 2 3 0 0 0 0 14
LMBR1, ZRS 14 0 0 0 0 0 0 0 0 14
LOC126861465, MGP 0 0 6 1 7 0 0 0 0 14
PDE3A 7 1 1 1 4 0 0 0 0 14
CASQ2, VANGL1 0 0 0 0 13 0 0 0 0 13
ERBB3 1 4 4 0 4 0 0 0 0 13
CREBBP, LOC130058357 3 1 6 3 1 0 0 0 0 12
DACT1 6 0 2 2 2 0 0 0 0 12
EP300, LOC130067530 1 0 2 6 3 0 0 0 0 12
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 0 0 0 12
NUP88 3 0 3 0 6 0 0 0 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 0 0 0 11
MAP3K20 3 0 2 1 5 0 0 0 0 11
MIR4673, NOTCH1 0 0 2 6 3 0 0 0 0 11
ADGRG6 4 1 3 1 2 0 0 0 0 10
EVC, EVC2 5 0 0 3 3 0 0 0 0 10
LMBR1, LOC129999727 0 0 4 2 4 0 0 0 0 10
PITX1 2 3 3 0 2 0 0 0 0 10
TOR1A 4 2 3 1 1 0 0 0 0 10
TRIP4 3 4 1 1 1 0 0 0 0 10
ZRS 10 0 0 0 0 0 0 0 0 10
DNM2 2 0 3 1 2 0 0 0 1 9
GDF5, LOC109461476 0 0 5 1 5 0 0 0 0 9
NEK9 1 2 2 1 3 0 0 0 0 9
RFWD3 2 0 3 1 3 0 0 0 0 9
SCYL2 3 3 0 0 3 0 0 0 0 9
ZNF469 9 0 0 0 0 0 0 0 0 9
B3GALT6 3 1 4 0 0 0 0 0 0 8
BRIP1, LOC130061360 3 0 5 0 0 0 0 0 0 8
BRCA2, LOC106721785 0 1 3 2 1 0 0 0 0 7
CREBBP, LOC130058353 2 0 2 1 3 0 0 0 0 7
FANCG, VCP 1 0 3 5 6 0 0 0 0 7
FANCI, POLG 2 1 2 1 2 0 0 0 0 7
LMNA, LOC126805877 0 0 6 1 0 0 0 0 0 7
LOC126862493, MYH8, MYHAS 0 0 3 4 0 0 0 0 0 7
LOC130005663, LRP4 0 0 4 3 0 0 0 0 0 7
PIP5K1C 1 0 1 1 4 0 0 0 0 7
ADCY6 3 1 3 0 0 0 0 0 0 6
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 0 0 0 6
LOC130005664, LRP4 0 0 4 0 2 0 0 0 0 6
RAD51 2 3 1 0 0 0 0 0 0 6
RBPJ 1 2 3 0 0 0 0 0 0 6
WNT7A 5 0 0 0 1 0 0 0 0 6
BLTP1 0 5 0 0 0 0 0 0 0 5
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 0 0 0 5
CCNQ 4 1 0 0 0 0 0 0 0 5
CHRND, CHRNG 0 0 1 4 4 0 0 0 0 5
LMNA, LOC129931597 0 0 3 1 1 0 0 0 0 5
LOC111162620, TP63 0 0 4 0 1 0 0 0 0 5
LOC126859837, SYNE1 0 0 3 1 1 0 0 0 0 5
UBE2T 4 0 0 0 1 0 0 0 0 5
ADAMTS15 4 0 0 0 0 0 0 0 0 4
IQSEC2, SMC1A 0 0 4 0 0 0 0 0 0 4
LOC105369937, MYBPC1 0 0 2 0 2 0 0 0 0 4
LOC126807011, RBPJ 1 2 1 0 0 0 0 0 0 4
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 0 0 0 4
PIGY, PYURF 1 0 3 0 0 0 0 0 0 4
RSPO2 2 1 0 0 2 0 0 0 0 4
TBX4 3 0 0 0 1 0 0 0 0 4
ZBTB42 1 0 1 0 2 0 0 0 0 4
AGL, SLC35A3 2 0 1 0 0 0 0 0 0 3
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 2 0 1 0 0 0 0 0 0 3
CHUK 2 0 1 0 0 0 0 0 0 3
CREBBP, TRAP1 2 1 0 0 0 0 0 0 0 3
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 0 0 0 3
FBN1 1 1 1 0 0 0 0 0 0 3
GDF6 2 0 1 1 0 0 0 0 0 3
GLE1, LOC130002710 0 0 3 0 0 0 0 0 0 3
LOC112441444, MYL11 3 3 0 0 0 0 0 0 0 3
LOC126806264, POLR1A 1 0 2 0 0 0 0 0 0 3
LOC126806608, WNT7A 2 0 1 0 0 0 0 0 0 3
LOC130001694, PIGO 0 0 2 1 0 0 0 0 0 3
LOC130064579, MEGF8 0 0 2 1 0 0 0 0 0 3
MET 1 0 2 0 0 0 0 1 0 3
MIR6857, SMC1A 0 0 0 3 0 0 0 0 0 3
NALCN 0 3 0 0 0 0 0 0 0 3
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, PIGW, SYNRG, TADA2A 0 0 2 0 0 0 0 0 0 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 0 0 0 0 2 2
ACTA1 1 1 0 0 0 0 0 0 0 2
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 1 0 1 0 0 0 0 0 0 2
ADCY9, CREBBP, GLIS2, SRL, TFAP4 1 0 1 0 0 0 0 0 0 2
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1 1 0 1 0 0 0 0 0 0 2
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCL19, CCL21, CCL27, CD72, CIMIP2B, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FANCG, GALT, GBA2, IL11RA, MSMP, NPR2, PHF24, PIGO, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TPM2, UNC13B, VCP 1 0 1 0 0 0 0 0 0 2
ASAH1 0 2 0 0 0 0 0 0 0 2
ASPM 1 1 0 0 0 0 0 0 0 2
ATP1A2 0 2 0 0 0 0 0 0 0 2
ATP2B1 0 2 0 0 0 0 0 0 0 2
BRIP1, LOC110120932 0 1 1 0 0 0 0 0 0 2
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 1 0 1 0 0 0 0 0 0 2
CC2D2A 2 0 0 0 0 0 0 0 0 2
CNTNAP1, LOC125177481 1 0 0 0 1 0 0 0 0 2
CREBBP, LOC130058357, LOC130058358 2 0 0 0 0 0 0 0 0 2
DARS2 2 0 0 0 0 0 0 0 0 2
DCLRE1B 2 0 0 0 0 0 0 0 0 2
DYNC1H1 0 0 2 0 0 0 0 0 0 2
EARS2 0 2 0 0 0 0 0 0 0 2
ERGIC1 2 0 0 0 0 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 0 0 0 2
FANCA, SPIRE2 1 0 1 0 0 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 0 0 0 2
FBN2, LOC126807502 0 0 2 0 0 0 0 0 0 2
HOXA11, LOC107126281 0 0 2 0 0 0 0 0 0 2
HOXA13 2 0 0 0 0 0 0 0 0 2
INE1, UBA1 0 0 2 0 0 0 0 0 0 2
LMBR1, LOC129999724, LOC129999725, ZRS 2 0 0 0 0 0 0 0 0 2
LOC126862474, NUP88 0 0 1 0 1 0 0 0 0 2
LOC129931382, SF3B4 2 0 0 0 0 0 0 0 0 2
LOC130001411, RECQL4 0 0 1 0 1 0 0 0 0 2
MYL11 1 1 1 0 0 0 0 0 0 2
PKD1 0 0 2 0 0 0 0 0 0 2
PLOD2 0 2 0 0 0 0 0 0 0 2
ROR2 0 2 0 0 0 0 0 0 0 2
SPAG16 0 0 2 0 0 0 0 0 0 2
TGFB2 0 0 0 2 0 0 0 0 0 2
VPS13D 0 0 2 0 0 0 0 0 0 2
AARS1 0 0 1 0 0 0 0 0 0 1
AATF, ACACA, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW 0 0 1 0 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 1 0 0 0 0 0 0 0 0 1
ABR, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf107, C1QBP, CAMKK1, CAMTA2, CHRNE, CLUH, CRK, CTNS, CXCL16, CYB5D2, DERL2, DHX33, DPH1, EMC6, ENO3, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIF1C, LIAT1, LOC100288728, MED11, METTL16, MINK1, MIR132, MIR212, MIR22, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, PAFAH1B1, PELP1, PFN1, PITPNA, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, VPS53, WDR81, WSCD1, YWHAE, ZFP3, ZMYND15, ZNF232, ZNF594, ZZEF1 1 0 0 0 0 0 0 0 0 1
ABR, BHLHA9, TRARG1, YWHAE 1 0 0 0 0 0 0 0 0 1
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANO7, AQP12A, AQP12B, ARL4C, ASB1, ASB18, ATG16L1, ATG4B, BOK, CAPN10, CHRND, CHRNG, COL6A3, COPS8, COPS9, D2HGDH, DGKD, DIS3L2, DNAJB3, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GIGYF2, GPC1, GPR35, HDAC4, HDLBP, HES6, HJURP, ILKAP, ING5, IQCA1, KCNJ13, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MROH2A, MTERF4, NDUFA10, NEU2, NEU4, NGEF, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, PRSS56, RAB17, RAMP1, RBM44, RNPEPL1, RTP5, SAG, SCLY, SEPTIN2, SH3BP4, SNED1, SNORC, SPP2, STK25, THAP4, TIGD1, TRAF3IP1, TRPM8, TWIST2, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 1 0 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANO7, AQP12A, AQP12B, ARL4C, ASB1, ASB18, ATG16L1, ATG4B, BOK, CAPN10, CHRND, CHRNG, COL6A3, COPS8, COPS9, D2HGDH, DGKD, DNAJB3, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GIGYF2, GPC1, GPR35, HDAC4, HDLBP, HES6, HJURP, ILKAP, ING5, IQCA1, KCNJ13, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MROH2A, MTERF4, NDUFA10, NEU2, NEU4, NGEF, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, PRSS56, RAB17, RAMP1, RBM44, RNPEPL1, SAG, SCLY, SEPTIN2, SH3BP4, SNED1, SNORC, SPP2, STK25, THAP4, TIGD1, TRAF3IP1, TRPM8, TWIST2, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 1 0 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 1
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388601, LOC129388602, LOC129388603, LOC129388604, LOC129931326, LOC129931327, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, LOC129931364, LOC129931365, LOC129931366, LOC129931367, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-27, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP 0 1 0 0 0 0 0 0 0 1
ACTC1, GJD2-DT 1 0 0 0 0 0 0 0 0 1
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 0 0 0 1
ADCY6, TEX49 1 0 0 0 0 0 0 0 0 1
ADCY9, ALG1, ANKS3, C16orf89, C16orf90, C16orf96, CDIP1, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, GLIS2, GLYR1, HMOX2, MEFV, MGRN1, MTRNR2L4, NAA60, NAGPA, NLRC3, NMRAL1, NUDT16L1, OR2C1, PAM16, PPL, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, TIGD7, TRAP1, UBALD1, UBN1, VASN, ZNF174, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN32 0 0 1 0 0 0 0 0 0 1
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, LINC01569, LINC02861, LOC105371062, LOC112441450, LOC113939951, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC129390755, LOC129390756, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 1 0 0 0 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 0 1
ADD3, ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1 0 0 1 0 0 0 0 0 0 1
ADSS1 1 0 0 0 0 0 0 0 0 1
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1 1 0 0 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, CAPN10-DT, COL6A3, COPS8, COPS8-DT, COPS9, CROCC2, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FAM240C, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LINC01107, LINC01237, LINC01238, LINC01880, LINC01881, LINC01937, LINC01940, LINC02610, LINC02991, LINC03100, LOC100287387, LOC106783501, LOC110121201, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110599582, LOC111501790, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC115947637, LOC115947638, LOC115947639, LOC121009633, LOC121009634, LOC121009635, LOC121725125, LOC121725126, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC122889016, LOC126806572, LOC126806573, LOC126806574, LOC126806575, LOC126806576, LOC126806577, LOC126806578, LOC126806579, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC126806584, LOC129389012, LOC129389013, LOC129389014, LOC129389015, LOC129389016, LOC129935916, LOC129935917, LOC129935918, LOC129935919, LOC129935920, LOC129935921, LOC129935922, LOC129935923, LOC129935924, LOC129935925, LOC129935926, LOC129935927, LOC129935928, LOC129935929, LOC129935930, LOC129935931, LOC129935932, LOC129935933, LOC129935934, LOC129935935, LOC129935936, LOC129935937, LOC129935938, LOC129935939, LOC129935940, LOC129935941, LOC129935942, LOC129935943, LOC129935944, LOC129935945, LOC129935946, LOC129935947, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC129935990, LOC129935991, LOC129935992, LOC129935993, LOC129935994, LOC129935995, LOC129935996, LOC129935997, LOC129935998, LOC129935999, LOC129936000, LOC129936001, LOC129936002, LOC129936003, LOC129936004, LOC129936005, LOC129936006, LOC129936007, LOC129936008, LOC129936009, LOC129936010, LOC129936011, LOC129936012, LOC129936013, LOC129936014, LOC129936015, LOC129936016, LOC129936017, LOC129936018, LOC129936019, LOC129936020, LOC129936021, LOC129936022, LOC129936023, LOC129936024, LOC129936025, LOC129936026, LOC129936027, LOC129936028, LOC129936029, LOC129936030, LOC129936031, LOC129936032, LOC129936033, LOC129936034, LOC132088825, LOC132088826, LOC132088827, LOC132088828, LOC132088829, LOC132088830, LOC132088831, LOC132088832, LOC132088833, LOC132088834, LOC132088835, LOC132088836, LOC132088837, LOC132090688, LOC132090689, LOC132090690, LOC132205954, LOC150935, LOC285097, LOC285191, LOC93463, LRRFIP1, MAB21L4, MGC16025, MIR149, MIR2467, MIR3133, MIR4269, MIR4440, MIR4441, MIR4786, MIR6811, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAB17-DT, RAMP1, RBM44, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, TANAR, THAP4, TRAF3IP1, TWIST2, UBE2F, UBE2F-SCLY, UICLM 1 0 0 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LOC100128563, MAB21L4, MIR149, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRR21, RAMP1, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 0 1 0 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, LOC100128563, MAB21L4, MIR149, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRR21, RNPEPL1, RTP5, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2 1 0 0 0 0 0 0 0 0 1
ALAS2, APEX2, FAM120C, FGD1, GNL3L, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MIR98, MIRLET7F2, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSR2, WNK3 1 0 0 0 0 0 0 0 0 1
ALDH5A1 0 1 0 0 0 0 0 0 0 1
ANK2, LOC126807137 0 0 0 1 0 0 0 0 0 1
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 0 0 1 0 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 0 0 0 1 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 1 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LINC01719, LIX1L, LOC106783502, LOC108254679, LOC122128419, LOC126805850, LOC126805851, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, MIR6736, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP 1 0 0 0 0 0 0 0 0 1
ANKRD36 0 0 0 0 1 0 0 0 0 1
APPBP2, BCAS3, BRIP1, CA4, CHCT1, HEATR6, INTS2, LINC02875, MED13, NACA2, PPM1D, TBX2, TBX4, USP32 0 1 0 0 0 0 0 0 0 1
ARHGAP31, LOC129937303 0 0 1 0 0 0 0 0 0 1
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 1 0 0 0 0 0 0 0 0 1
ATP2B3 0 1 0 0 0 0 0 0 0 1
ATP9A, LINC01429, LOC130066178, SALL4 1 0 0 0 0 0 0 0 0 1
AVEN, RYR3 0 0 1 0 0 0 0 0 0 1
AVEN, RYR3, RYR3-DT 0 0 1 0 0 0 0 0 0 1
BHLHA9, TRARG1 1 0 0 0 0 0 0 0 0 1
BICD2 0 1 0 0 0 0 0 0 0 1
BMPR1B 1 0 0 0 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 1 0 0 0 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, VHL 1 0 0 0 0 0 0 0 0 1
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 0 0 0 1
C16orf90, CLUAP1, CREBBP, DNASE1, MEFV, MTRNR2L4, NAA60, NLRC3, OR2C1, SLX4, TIGD7, TRAP1, ZNF174, ZNF263, ZNF597, ZNF75A, ZSCAN32 1 0 0 0 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 0 0 0 1
C9orf163, CAMSAP1, CARD9, COL5A1, DNLZ, ENTR1, FCN1, FCN2, GLT6D1, GPSM1, INPP5E, KCNT1, LCN1, LCN9, LHX3, LINC02907, MRPS2, NACC2, NOTCH1, OBP2A, OLFM1, PAEP, PIERCE1, PMPCA, PPP1R26, QSOX2, SEC16A, SNAPC4, SOHLH1, TMEM250, UBAC1 0 0 1 0 0 0 0 0 0 1
CAV1 0 0 1 0 0 0 0 0 0 1
CCIN, CLTA, CREB3, FAM221B, GBA2, GLIPR2, GNE, HINT2, HRCT1, MSMP, NPR2, OR13J1, OR2S2, RECK, RGP1, SPAG8, TLN1, TMEM8B, TPM2 0 0 1 0 0 0 0 0 0 1
CCNQ, LOC105373383, LOC111589209, LOC130068825, LOC130068826, LOC130068827, LOC130068828 1 0 0 0 0 0 0 0 0 1
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, RPL13, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, VPS9D1, ZNF276 0 0 1 0 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 0 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 0 0 1 0 0 0 0 0 0 1
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 1 0 0 0 0 0 0 0 0 1
CDX2 0 1 0 0 0 0 0 0 0 1
CHRNA1, LOC122861243, LOC129935149, LOC129935150 0 0 1 0 0 0 0 0 0 1
CHRNA1, LOC129935149, LOC129935150 1 0 0 0 0 0 0 0 0 1
CHRND, CHRNG, LOC129935864, TIGD1 0 0 1 0 0 0 0 0 0 1
COL1A2 0 1 0 0 0 0 0 0 0 1
COL5A1 0 1 0 0 0 0 0 0 0 1
COPS9, GPC1, HDAC4, LOC100128563, NDUFA10, OR6B2, OR6B3, OTOS, PRR21 1 0 0 0 0 0 0 0 0 1
CPLANE1, NIPBL, NUP155 1 0 0 0 0 0 0 0 0 1
CPQ, GDF6, MTERF3, PTDSS1, SDC2, UQCRB 1 0 0 0 0 0 0 0 0 1
CREBBP, LOC125146381, LOC125146382, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358 1 0 0 0 0 0 0 0 0 1
CREBBP, LOC130058353, LOC130058354, LOC130058355 1 0 0 0 0 0 0 0 0 1
DLX5 1 0 0 0 0 0 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 0 0 0 1
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 0 0 0 0 1
DNAJB7, EP300, MCHR1, RBX1, SLC25A17, ST13, XPNPEP3 1 0 0 0 0 0 0 0 0 1
DOCK7 0 1 0 0 0 0 0 0 0 1
DQX1 0 0 1 0 0 0 0 0 0 1
DSE, LOC129997034, TSPYL1 0 0 0 0 1 0 0 0 0 1
EIF3H, RAD21, UTP23 0 0 1 0 0 0 0 0 0 1
EP300, LOC130067528, LOC130067529, LOC130067530 1 0 0 0 0 0 0 0 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 0 0 0 1
ESR1, SYNE1 1 0 0 0 0 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 0 0 0 1
FANCA, LOC112486223, LOC125177396, LOC126862451, LOC128772421, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC132090451, LOC132090890, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 0 0 1
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276 1 0 0 0 0 0 0 0 0 1
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839 1 0 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 0 0 1
FANCC, PTCH1 0 0 1 0 0 0 0 0 0 1
FANCF, LOC130005443, LOC130005444 0 0 1 0 0 0 0 0 0 1
FANCL, LOC129388866, LOC129933782, VRK2 1 0 0 0 0 0 0 0 0 1
FANCL, LOC129388866, VRK2 0 1 0 0 0 0 0 0 0 1
FBLN1 0 0 1 0 0 0 0 0 0 1
FERD3L, TWIST1 1 0 0 0 0 0 0 0 0 1
FGFR1, LOC102723716 0 0 0 1 0 0 0 0 0 1
FGFR3 1 0 0 0 0 0 0 0 0 1
FZD3 0 1 0 0 0 0 0 0 0 1
GBE1 0 1 0 0 0 0 0 0 0 1
GCN1 0 0 1 0 0 0 0 0 0 1
GFRA4 0 0 1 0 0 0 0 0 0 1
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 0 0 0 1
HDAC8, LOC130068439, PHKA1 1 0 0 0 0 0 0 0 0 1
HOXA10-HOXA9, HOXA9, LOC107197952 0 0 1 0 0 0 0 0 0 1
HOXA11 1 0 0 0 0 0 0 0 0 1
HSD17B10, HUWE1, RIBC1, SMC1A 0 0 1 0 0 0 0 0 0 1
INPP5E 1 0 0 0 0 0 0 0 0 1
IQSEC3 0 0 1 0 0 0 0 0 0 1
IQSEC3, LOC574538 0 0 1 0 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 0 0 1
KLHL7 0 1 0 0 0 0 0 0 0 1
KMT2A 1 0 0 0 0 0 0 0 0 1
LGR6, UBE2T 1 0 0 0 0 0 0 0 0 1
LINC00244, LMBR1, LOC113687207, LOC114255744, LOC126860251, LOC126860252, LOC129999719, LOC129999720, LOC129999721, LOC129999722, LOC129999723, LOC129999724, LOC129999725, LOC129999726, LOC129999727, LOC129999728, LOC129999729, LOC129999730, LOC129999731, LOC285889, RNF32, RNF32-DT, ZRS 1 0 0 0 0 0 0 0 0 1
LINC01451, LOC110121282, LOC124375245, LOC126860795, LOC130003018, LOC130003019, LOC130003020, LOC130003021, LOC130003022, LOC130003023, LOC130003024, MIR4674, NALT1, NOTCH1 1 0 0 0 0 0 0 0 0 1
LMBR1, LOC113687207, LOC114255744, LOC129999723, LOC129999724, LOC129999725, ZRS 1 0 0 0 0 0 0 0 0 1
LOC111162621, TP63 0 0 0 1 0 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 0 0 0 1
LOC121725046, VANGL1 0 0 0 0 1 0 0 0 0 1
LOC124310625, LOC126860730, MUSK 1 0 0 0 0 0 0 0 0 1
LOC124310625, MUSK 0 1 0 0 0 0 0 0 0 1
LOC124375244, LOC126860794, LOC130003015, LOC130003016, MIR4673, NOTCH1 0 0 1 0 0 0 0 0 0 1
LOC124625920, PDE3A 0 0 1 0 0 0 0 0 0 1
LOC126806373, NEB 0 1 0 0 0 0 0 0 0 1
LOC126862156, TRIP4 0 0 0 0 1 0 0 0 0 1
LOC126862696, PIEZO2 0 1 0 0 0 0 0 0 0 1
LOC129993812, NIPBL 1 0 0 0 0 0 0 0 0 1
LOC129997480, SYNE1 0 0 0 1 0 0 0 0 0 1
LOC130002772, TOR1A 0 0 1 0 0 0 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 0 0 0 0 1
LOC130060295, MYH3 0 1 0 0 0 0 0 0 0 1
LOC130068210, UBA1 0 0 1 0 0 0 0 0 0 1
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 1 0 0 0 0 0 0 0 0 1
LRRC37A2, WNT3 1 0 0 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 0 0 1
MAGI3 0 0 1 0 0 0 0 0 0 1
MEGF8, MIR8077 0 0 0 1 0 0 0 0 0 1
MIR6788, PIEZO2 0 1 0 0 0 0 0 0 0 1
MUSK, SVEP1, TXN, TXNDC8 0 0 1 0 0 0 0 0 0 1
MYOD1 1 0 0 0 0 0 0 0 0 1
NAGA 0 0 1 0 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 0 0 0 1
NUP88, RABEP1 0 0 0 0 1 0 0 0 0 1
PIGB 0 0 1 0 0 0 0 0 0 1
PIGG 1 0 0 0 0 0 0 0 0 1
PIGL 0 1 0 0 0 0 0 0 0 1
PIGW 0 0 1 0 0 0 0 0 0 1
PIGY 1 0 0 0 0 0 0 0 0 1
PRG4 0 0 1 0 0 0 0 0 0 1
PRICKLE1 0 0 1 0 0 0 0 0 0 1
PSMC3, RAPSN, SLC39A13 0 0 1 0 0 0 0 0 0 1
PTCH1 0 1 0 0 0 0 0 0 0 1
RP1L1 0 1 0 0 0 0 0 0 0 1
SCN4A 0 1 0 0 0 0 0 0 0 1
SCN5A 0 1 0 0 0 0 0 0 0 1
SCN8A 0 1 0 0 0 0 0 0 0 1
SEPSECS 0 1 0 0 0 0 0 0 0 1
SETBP1 1 0 0 0 0 0 0 0 0 1
SETD5 0 0 1 0 0 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 0 1
TAF6 1 0 0 0 0 0 0 0 0 1
TMPO 0 0 1 0 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 0 0 1
UNC13C 0 0 1 0 0 0 0 0 0 1
UNC50 0 0 1 0 0 0 0 0 0 1
WAPL 0 0 1 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 0 1
ZNF875 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 296
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance risk factor not provided total
Invitae 3294 899 16229 18118 2958 0 2 0 0 41499
Illumina Laboratory Services, Illumina 22 14 2793 596 1151 0 0 0 0 4454
Fulgent Genetics, Fulgent Genetics 301 147 1923 796 104 0 0 0 0 3271
Baylor Genetics 387 805 395 1 0 0 0 0 0 1584
Genome-Nilou Lab 28 11 264 220 752 0 0 0 0 1275
Natera, Inc. 72 18 710 133 66 0 0 0 0 999
OMIM 754 0 3 0 0 0 0 0 0 757
Leiden Open Variation Database 617 8 114 1 0 0 0 0 0 740
Sema4, Sema4 10 20 339 274 46 0 0 0 0 689
Counsyl 46 193 216 57 16 0 0 0 0 527
Genetic Services Laboratory, University of Chicago 271 89 87 0 2 0 0 0 0 449
Revvity Omics, Revvity 123 56 204 4 0 0 0 0 0 387
Mendelics 65 40 126 81 43 0 0 0 0 355
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 54 191 0 0 0 0 246
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 69 85 0 0 0 0 0 0 0 154
3billion 62 42 26 0 0 0 0 0 0 130
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 28 20 63 9 0 0 0 0 0 120
Wessex Regional Genetics Laboratory, Salisbury District Hospital 90 20 8 0 0 0 0 0 0 118
Centre for Mendelian Genomics, University Medical Centre Ljubljana 23 20 60 1 4 0 0 0 0 108
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 4 89 1 0 0 0 0 0 100
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 20 23 52 0 0 0 0 0 0 95
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 6 75 6 2 0 0 0 0 92
Institute of Human Genetics, University of Leipzig Medical Center 13 24 43 5 0 0 0 0 0 85
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 59 15 4 1 0 0 0 0 0 79
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 71 71
Cirak Lab, University Hospital Cologne 13 33 22 0 0 0 0 0 0 68
Myriad Genetics, Inc. 8 53 3 0 0 0 0 0 0 64
New York Genome Center 1 4 53 0 0 0 0 0 0 58
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 26 5 26 0 0 0 0 0 0 57
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 11 17 27 0 0 0 0 0 0 55
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 4 31 3 0 0 0 0 0 46
Centre of Medical Genetics, University of Antwerp 25 6 14 0 0 0 0 0 0 44
GeneReviews 1 0 0 0 0 0 0 0 41 42
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 24 9 9 0 0 0 0 0 0 42
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 13 16 9 0 0 0 0 0 0 38
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 18 18 2 0 0 0 0 0 0 38
University of Washington Center for Mendelian Genomics, University of Washington 30 9 0 0 0 0 0 0 0 37
Daryl Scott Lab, Baylor College of Medicine 23 3 10 0 0 0 0 0 0 36
Genetics and Molecular Pathology, SA Pathology 11 8 16 0 1 0 0 0 0 36
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 30 0 0 0 0 35
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 14 9 10 1 0 0 0 0 0 34
Centogene AG - the Rare Disease Company 5 15 12 0 0 0 0 0 0 32
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 31 31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 7 11 0 0 0 0 0 0 31
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 14 16 0 0 0 0 0 0 0 30
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 23 0 0 0 0 28
MGZ Medical Genetics Center 8 10 9 0 0 0 0 0 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 15 12 0 0 0 0 27
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 13 11 2 0 0 0 0 0 0 25
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 13 6 0 1 0 0 0 0 25
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 12 10 0 0 0 0 0 0 24
Johns Hopkins Genomics, Johns Hopkins University 8 0 13 3 0 0 0 0 0 24
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 17 0 0 0 0 23
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 16 5 0 0 0 0 0 0 0 21
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 13 3 5 0 0 0 0 0 0 21
Istanbul Faculty of Medicine, Istanbul University 10 4 7 0 0 0 0 0 0 21
Genomic Medicine Lab, University of California San Francisco 10 4 6 0 0 0 0 0 0 20
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 10 7 3 0 0 0 0 0 0 20
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 3 9 0 0 0 0 0 0 19
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 8 5 0 0 0 0 0 0 19
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 15 3 1 0 0 0 0 0 0 19
Institute of Human Genetics, Cologne University 4 10 4 0 0 0 0 0 0 18
Clinical Genetics Research Group, University of Calgary 18 0 0 0 0 0 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 9 2 4 0 0 0 0 17
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 13 4 0 0 0 0 0 0 0 17
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 6 1 0 0 0 0 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 10 6 0 0 0 0 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 8 0 0 0 0 0 0 0 16
SIB Swiss Institute of Bioinformatics 5 6 5 0 0 0 0 0 0 16
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 10 2 0 0 0 0 0 0 15
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 13 0 2 0 0 0 0 0 0 15
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 12 0 0 0 0 0 0 0 14
Center of Genomic medicine, Geneva, University Hospital of Geneva 8 6 0 0 0 0 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 5 2 0 0 0 0 0 0 14
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 5 9 0 0 0 0 0 0 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 9 0 0 0 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 3 2 8 0 0 0 0 0 0 13
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 4 5 0 0 0 0 0 0 13
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 5 6 2 0 0 0 0 0 0 13
Service de Génétique Moléculaire, Hôpital Robert Debré 0 6 1 5 0 0 0 0 0 12
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 8 4 0 0 0 0 0 0 0 12
Department of Medical Genetics, Oslo University Hospital 7 4 0 0 0 0 0 0 0 11
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 7 1 3 0 0 0 0 0 0 11
Center for Molecular Medicine, Children’s Hospital of Fudan University 9 2 0 0 0 0 0 0 0 11
Suma Genomics 5 2 3 1 0 0 0 0 0 11
Institute of Human Genetics, University of Goettingen 1 3 4 2 0 0 0 0 0 10
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 5 3 0 0 0 0 0 0 10
Molecular and Medical Genetics Group, King's College London 5 4 1 0 0 0 0 0 0 10
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 3 3 2 0 0 0 0 10
DASA 5 5 0 0 0 0 0 0 0 10
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 5 1 0 0 0 0 0 0 9
Undiagnosed Diseases Network, NIH 5 4 0 0 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 6 2 0 0 0 0 0 9
Molecular Genetics Lab, CHRU Brest 4 5 0 0 0 0 0 0 0 9
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 5 3 0 0 0 0 0 0 8
Institute of Human Genetics, University Hospital of Duesseldorf 1 4 3 0 0 0 0 0 0 8
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 7 0 0 0 0 0 0 8
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 6 2 0 0 0 0 0 0 0 8
Lifecell International Pvt. Ltd 5 3 0 0 0 0 0 0 0 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 2 2 0 0 0 0 0 0 8
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 5 0 0 0 0 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 2 1 0 0 0 0 0 7
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 3 0 0 0 0 0 0 0 7
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 0 0 0 7
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 6 0 1 0 0 0 0 0 7
Clinical Genetics Group, University of Otago 6 0 1 0 0 0 0 0 0 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 5 0 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 6 0 0 0 0 0 0 7
Pediatric Genetics Clinic, Sheba Medical Center 6 1 0 0 0 0 0 0 0 7
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 5 0 0 0 0 0 0 0 6
Duke University Health System Sequencing Clinic, Duke University Health System 2 2 2 0 0 0 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 2 0 0 0 0 0 0 6
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 4 0 0 0 0 0 0 0 6
Clinical Genomics Program, Stanford Medicine 1 2 3 0 0 0 0 0 0 6
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 3 2 0 0 0 0 0 0 6
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 3 0 0 0 0 0 0 0 5
Breda Genetics srl 1 1 3 0 0 0 0 0 0 5
Reproductive Health Research and Development, BGI Genomics 4 0 1 0 0 0 0 0 0 5
Klinisk genetik och genomik Research, Gothenburg University 2 3 0 0 0 0 0 0 0 5
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 2 1 2 0 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 5 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 2 0 0 0 0 0 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 1 0 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 0 0 4
University of British Columbia 0 3 0 0 1 0 0 0 0 4
Harry Perkins Institute Of Medical Research, University Of Western Australia 3 1 0 0 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 3 1 0 0 0 0 0 0 0 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 3 0 1 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 3 1 0 0 0 0 0 0 4
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 4 0 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 1 3 0 0 0 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 2 2 0 0 0 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 2 0 0 0 0 0 4
Pars Genome Lab 1 0 1 0 2 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 3 1 0 0 0 0 0 4
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 3 1 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 2 0 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 1 0 0 0 0 0 0 3
CHU Sainte-Justine Research Center, University of Montreal 1 2 0 0 0 0 0 0 0 3
Institute of Experimental Medicine, Department of Genetics, Istanbul University 3 0 0 0 0 0 0 0 0 3
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 3 0 0 0 0 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 3 0 0 0 0 0 0 0 0 3
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 2 1 0 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 2 0 0 0 0 0 0 3
Dept of Molecular Biology and Genetics, Bogazici University 1 0 0 1 1 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 1 0 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 0 0 0 0 0 0 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 1 1 0 0 0 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 3 0 0 0 0 0 0 0 0 3
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 2 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 0 1 0 0 0 0 0 0 3
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 2 0 0 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 0 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 1 0 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 2 0 0 0 0 0 0 0 2
Medical Genetics Institute, Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 2 2
ITMI 2 0 0 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 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 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 0 0 0 2
Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 0 0 0 0 2
Center for Individualized Medicine, Mayo Clinic 0 2 0 0 0 0 0 0 0 2
Center for Human Genetics, University of Leuven 0 2 0 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 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 0 2
Ege University Pediatric Genetics, Ege University 2 0 0 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 2 0 0 0 0 0 0 2
Costain lab, The Hospital for Sick Children 0 0 0 0 0 0 0 0 2 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 0 0 0 2
Pediatric Genomics Discovery Program, Yale University 0 2 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 0 0 0 2
Comparative, Adaptive and Functional Skeletal Biology, CCMAR - University of Algarve 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 0 0 0 2
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 2 0 0 0 0 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 2 0 0 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 0 0 0 0 2
Human Genetics Section, Sidra Medicine 2 0 0 0 0 0 0 0 0 2
Clinical Genetics Branch, National Institutes of Health 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 1 1 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 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
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 0 0 2
Clinical Laboratory, Akita National Hospital 2 0 0 0 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 0 0 0 2
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 1 1 0 0 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 0 0 0 2
Department of Nephrology, Jining No.1 People’s Hospital 2 0 0 0 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 1 1 0 0 0 0 0 0 2
Pediatric Research Institute, Henan Children’s Hospital 0 1 0 0 0 0 0 0 1 2
King Laboratory, University of Washington 1 0 0 0 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 0 0 0 1
dbVar 1 0 0 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University 1 0 0 0 0 0 0 0 0 1
Ahituv Lab, University of California San Francisco 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 0 0 0 1
Nowon Eulji Medical Center, Nowon Eulji Medical Center 0 1 0 0 0 0 0 0 0 1
Research Center for Immunodeficiencies, Tehran University of Medical Sciences 0 0 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 0 0 1
Medical Genetics Unit, Zeynep Kamil Women and Children's Hospital 1 0 0 0 0 0 0 0 0 1
Christopher A. Walsh Laboratory, Boston Children's Hospital 1 0 0 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 0 0 1
Clinical Genetics, Charité Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 0 0 1
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University 0 0 0 0 0 0 0 1 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 1
Medical Genetics Clinic, Mersin Women and Children Hospital 0 1 0 0 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 1
Bondeson Group, Uppsala University 0 1 0 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 0 0 1
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Department of Eugenics & Genetics, Women & Infants Hospital of Zhengzhou 1 0 0 0 0 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 1 0 0 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 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
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University 0 1 0 0 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 0 0 0 1
Unidad de Genetica, Hospital Roberto del Rio 1 0 0 0 0 0 0 0 0 1
Iowa Institute Of Oral Health Research, University of Iowa 0 0 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 0 0 1
CNRS UMR1283, Université de Lille 1 0 0 0 0 0 0 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 0 0 0 0 1
Center of Medical Genomics-TUH, Thammasat University 0 1 0 0 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 0 0 1
Skeletal Dysplasia Laboratory, Hospital Universitario La Paz 1 0 0 0 0 0 0 0 0 1
Molecular Medicine, NSW Health Pathology North, Newcastle 0 1 0 0 0 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 0 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 0 1 0 0 0 0 0 0 1
Pediatric Intensive Care Unit, Hebei Children’s Hospital 0 1 0 0 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 0 0 0 1
JKU Lab, Dept of Paediatrics, Johannes Kepler University 1 0 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 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 0 0 1
Neonatology Unit, University Hospital of Modena 1 0 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 0 0 0 1
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 0 0 0 1
UO Genetica Medica, University of Bologna 0 1 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 0 0 0 1
Liaoning Province Research Institute of Family Planning, China Medical University 1 0 0 0 0 0 0 0 0 1
Neonatal Intensive Care Unit, Fujian Provincial Hospital 0 1 0 0 0 0 0 0 0 1
Larsen Research Group, University of Copenhagen 1 0 0 0 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.