If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
likely risk allele |
risk factor |
uncertain risk allele |
not provided |
total |
505
|
266
|
2930
|
2118
|
472
|
1
|
15
|
6
|
15
|
1
|
111
|
6098
|
Gene and significance breakdown #
Total genes and gene combinations: 113
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
likely risk allele |
risk factor |
uncertain risk allele |
not provided |
total |
AIRE
|
124
|
107
|
339
|
520
|
51
|
0 |
0 |
0 |
0 |
0 |
4
|
1062
|
NOD2
|
15
|
2
|
472
|
319
|
82
|
0 |
3
|
0 |
0 |
0 |
81
|
850
|
STAT1
|
37
|
19
|
186
|
241
|
28
|
0 |
0 |
0 |
0 |
0 |
2
|
507
|
CASP10
|
2
|
0 |
291
|
127
|
59
|
0 |
0 |
0 |
0 |
0 |
4
|
459
|
ATRIP, ATRIP-TREX1, TREX1
|
45
|
14
|
259
|
126
|
11
|
0 |
0 |
0 |
1
|
0 |
0 |
446
|
PRKCD
|
12
|
4
|
168
|
215
|
22
|
0 |
0 |
0 |
0 |
0 |
1
|
414
|
FAS
|
65
|
20
|
167
|
82
|
27
|
0 |
0 |
0 |
0 |
0 |
0 |
347
|
FBN1
|
25
|
18
|
238
|
32
|
1
|
0 |
0 |
0 |
0 |
0 |
8
|
317
|
FOXP3
|
32
|
13
|
120
|
103
|
43
|
0 |
0 |
3
|
0 |
1
|
0 |
289
|
CASP8
|
18
|
4
|
150
|
105
|
18
|
0 |
0 |
0 |
0 |
0 |
0 |
287
|
CTLA4
|
31
|
12
|
104
|
53
|
6
|
0 |
0 |
0 |
1
|
0 |
0 |
201
|
FASLG
|
3
|
0 |
96
|
70
|
22
|
0 |
0 |
0 |
0 |
0 |
7
|
183
|
ATP2C1
|
10
|
4
|
45
|
5
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
84
|
HNF1A
|
6
|
5
|
40
|
16
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
68
|
CYLD, NOD2
|
0 |
0 |
37
|
14
|
15
|
0 |
1
|
0 |
0 |
0 |
3
|
66
|
DNASE1L3
|
2
|
2
|
27
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
43
|
SAMHD1
|
2
|
3
|
15
|
6
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
36
|
AIRE, LOC130066813
|
6
|
2
|
14
|
14
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
35
|
BLK
|
4
|
0 |
1
|
2
|
21
|
0 |
1
|
2
|
0 |
0 |
0 |
31
|
STAT3
|
16
|
5
|
9
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
31
|
CIITA
|
0 |
1
|
25
|
0 |
1
|
0 |
0 |
0 |
1
|
0 |
0 |
28
|
LOC129936899, PRKCD
|
0 |
0 |
14
|
13
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
28
|
HNRNPA1
|
3
|
14
|
2
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
26
|
ACTA2, FAS
|
1
|
2
|
6
|
8
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
22
|
SAMHD1, TLDC2
|
0 |
0 |
11
|
0 |
9
|
0 |
0 |
0 |
0 |
0 |
0 |
20
|
KRAS
|
7
|
2
|
5
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
19
|
LOC129936895, PRKCD
|
0 |
0 |
4
|
8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
CTLA4, LOC129935461
|
1
|
0 |
8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
ZAP70
|
2
|
0 |
6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
LBR
|
1
|
1
|
3
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
NLRP1
|
0 |
0 |
4
|
4
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
9
|
FBN1, LOC126862124
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
PMP22
|
0 |
0 |
5
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
8
|
DNASE1
|
0 |
1
|
3
|
0 |
1
|
0 |
0 |
0 |
2
|
0 |
0 |
7
|
PADI4
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
BLK, LOC126860303
|
1
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PADI2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
SOCS1
|
0 |
3
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
TLR7
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
AP4B1, PTPN22
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
3
|
CASP8, LOC128772255
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
COL2A1
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MARS1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
NRAS
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
intergenic
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ABI2, ALS2, BMPR2, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AIRE, LOC130066813, LOC130066814
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AIRE, LOC130066814
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ANKRD45, C1orf105, CENPL, DARS2, DNM3, DNM3OS, FASLG, GAS5, KLHL20, METTL13, MIR199A2, MIR214, MIR3120, MYOC, PIGC, PRDX6, RC3H1, SERPINC1, SLC9C2, SUCO, TNFSF18, TNFSF4, VAMP4, ZBTB37
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
C12orf43, HNF1A
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CBLB, LOC126806757
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FBN1, LOC113939944
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FBN1, LOC130057019
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FBN1, LOC130057020
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FCGR2A
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FCGR2B
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
INS, INS-IGF2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
ITK
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC130058479, SOCS1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
POLG, POLGARF
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PRKCD, RFT1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TLR1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TLR8
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ACTA2, ANKRD22, CH25H, FAS, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, RNLS, SLC16A12, STAMBPL1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ACTA2, ANKRD22, CH25H, FAS, IFIT2, IFIT3, LIPA, LIPM, LIPN, STAMBPL1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ACTA2, CH25H, FAS, LIPA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIRE, CFAP410, PFKL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIRE, DNMT3L, ICOSLG
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARID2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BANK1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1F, CCDC22, CLCN5, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GPKOW, MAGIX, MIR502, MIR532, PAGE1, PAGE4, PLP2, PPP1R3F, PRICKLE3, SYP, USP27X, WDR45
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CASP10, CASP8, LOC128772255, LOC129935407, LOC129935408, LOC129935409, LOC129935410, LOC129935411, LOC129935412
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CASP10, LOC129935405
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CASP8, LOC128772255, LOC129935411
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CASP8, LOC129935411
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CBLB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CCDC22, FOXP3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CD244
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CD28, CTLA4, ICOS, RAPH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CEL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHRNG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CTLA4, ICOS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYBA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYLD, NOD2, SALL1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNASE2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ENG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FOXD3, LOC129930662
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
IL10, IL19
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL10, IL19, LOC128462409
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL21R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
INS, INS-IGF2, TH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IRF5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCNJ11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF1B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130065805, SAMHD1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAP2K2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MPEG1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NFKBIL1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
NR1H3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RUNX1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SLC22A4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SLC39A13
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STAT1, STAT4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SUPT20H
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
TCF3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TNF
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
TRAF3IP2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
likely risk allele |
risk factor |
uncertain risk allele |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
310
|
87
|
2154
|
1944
|
266
|
0 |
4
|
0 |
0 |
0 |
0 |
4765
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
273
|
77
|
218
|
0 |
0 |
0 |
0 |
0 |
0 |
570
|
Fulgent Genetics, Fulgent Genetics
|
25
|
28
|
347
|
81
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
486
|
Natera, Inc.
|
12
|
10
|
109
|
20
|
22
|
0 |
0 |
0 |
0 |
0 |
0 |
173
|
OMIM
|
119
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
14
|
0 |
1
|
136
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
13
|
8
|
60
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
87
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
80
|
80
|
Counsyl
|
8
|
38
|
17
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
66
|
Baylor Genetics
|
8
|
3
|
28
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
39
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
0 |
4
|
3
|
19
|
0 |
1
|
6
|
0 |
1
|
0 |
34
|
Revvity Omics, Revvity
|
5
|
5
|
23
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
33
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
28
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
32
|
Genome-Nilou Lab
|
0 |
0 |
1
|
2
|
26
|
0 |
0 |
0 |
0 |
0 |
0 |
29
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
14
|
7
|
2
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
27
|
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee
|
3
|
14
|
2
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Mendelics
|
8
|
1
|
6
|
6
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
24
|
New York Genome Center
|
1
|
1
|
19
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Neuberg Centre For Genomic Medicine, NCGM
|
4
|
3
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Myriad Genetics, Inc.
|
3
|
15
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
3
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
16
|
3billion
|
6
|
1
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
14
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
13
|
Carola Vinuesa Lab, John Curtin School of Medical Research
|
5
|
0 |
0 |
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
4
|
2
|
2
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
11
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
3
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Undiagnosed Diseases Network, NIH
|
2
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
2
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center
|
1
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genomics England Pilot Project, Genomics England
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Department of Dermatology, The Second Affiliated Hospital of Nanchang University
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Biochemistry and Biotechnology, Faculty of Life Sciences, University of the Punjab
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Suma Genomics, Suma Genomics
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Neurology, Charite University of Medicine
|
0 |
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Zoology, University of the Punjab, Lahore
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Immunology, University Hospital Southampton NHSFT
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Choi Lab, Seoul National University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MS Genetics Lab, University of British Columbia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Ophthalmology, Flinders Medical Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Gazi University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics, University of Zurich
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
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 |
0 |
0 |
0 |
1
|
GenHotel - European Research Laboratory for Rheumatoid Arthritis, University of Paris Saclay
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LACE Laboratorios
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Experimental and Health Sciences Department, Universitat Pompeu Fabra
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
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 |
0 |
0 |
0 |
1
|
Institute of Dermatology, Anhui Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
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1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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Institute of Immunology and Genetics Kaiserslautern
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0 |
0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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UAEU Genomics Laboratory, United Arab Emirates University
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0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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Solve-RD Consortium
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0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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Dr.Nikuei Genetic Center
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0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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