ClinVar Miner

Variants studied for pancreas disorder

Included ClinVar conditions (165):
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 association association not found established risk allele likely risk allele protective risk factor uncertain risk allele not provided total
1602 1540 6563 2539 1189 1 9 1 1 136 2 12 150 113 12099

Gene and significance breakdown #

Total genes and gene combinations: 168
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found established risk allele likely risk allele protective risk factor uncertain risk allele not provided total
ABCC8 162 315 707 74 68 0 1 0 0 0 0 0 22 13 1051
GCK 278 361 238 80 90 0 0 0 0 49 0 0 53 6 864
CPA1 0 1 461 306 7 0 0 0 0 0 0 0 0 0 773
PRSS1, TRB 17 15 505 245 39 0 0 0 0 0 0 0 0 5 769
HNF1A 151 200 297 100 85 0 0 0 0 31 0 0 25 4 687
CTRC 19 17 380 246 33 0 2 0 0 0 0 0 0 3 632
WFS1 29 42 354 75 18 0 0 0 0 0 0 0 0 0 504
HNF4A 65 89 260 96 138 0 0 0 0 14 0 0 22 2 477
HNF1B 154 101 147 78 44 0 0 0 0 19 0 0 17 0 465
GLIS3 5 9 350 57 53 0 0 0 0 0 0 0 2 0 453
PALLD 0 0 237 117 51 0 0 0 0 0 0 1 0 0 399
CBR4, PALLD 0 0 250 123 29 0 0 0 0 0 0 0 0 0 393
CFTR 135 87 108 22 15 0 0 0 0 0 0 0 0 6 355
BRCA2 130 18 149 28 17 0 0 0 0 0 0 1 0 1 343
PALB2 46 25 191 38 2 0 0 0 0 0 0 2 0 2 303
KCNJ11 36 61 224 28 40 0 1 1 0 6 0 0 1 27 292
INSR 16 6 171 54 63 0 0 0 0 0 0 0 3 0 283
HADH 21 20 93 163 12 0 0 0 0 2 0 0 0 0 281
BRCA1 82 8 64 24 18 0 0 0 0 0 0 1 0 1 196
SPINK1 16 9 100 82 16 0 1 0 1 1 0 2 0 8 195
GLUD1 12 5 84 48 15 0 0 0 0 0 0 0 0 0 150
CEL 4 7 114 17 7 0 0 0 0 0 0 0 0 0 141
AKT2 2 0 46 79 17 0 0 0 0 0 0 0 0 0 140
ENPP1 6 15 99 10 2 0 0 0 0 0 0 0 0 0 131
NEUROD1 3 0 98 13 10 0 0 0 0 0 0 0 0 0 120
KLF11 2 0 72 21 27 0 0 0 0 1 0 0 0 0 115
BLK 4 0 52 26 32 0 0 0 0 0 0 0 0 0 107
PDX1 2 10 64 34 8 0 0 0 0 0 0 0 0 1 104
PAX4 3 0 44 28 12 0 0 0 0 0 0 0 0 0 77
SLC2A2 7 9 48 6 5 1 0 0 0 0 0 0 0 0 76
INS, INS-IGF2 13 22 38 6 3 0 0 0 0 10 0 0 2 24 75
ALMS1 0 0 4 35 26 0 0 0 0 0 0 0 0 0 65
C12orf43, HNF1A 4 8 40 7 28 0 1 0 0 0 0 0 1 1 65
SLC16A1 2 2 45 10 4 0 0 0 0 0 0 0 0 0 63
HNF1B, LOC126862549 15 16 19 11 6 0 0 0 0 2 0 0 2 0 61
TP53 15 10 19 5 2 0 0 0 0 0 0 0 0 0 51
PTF1A 5 1 28 7 9 0 0 0 0 0 0 0 0 0 47
SMAD4 7 3 30 2 0 0 0 0 0 0 0 0 0 0 42
ZFP57 8 2 18 12 9 0 0 0 0 0 0 0 0 0 42
STK11 5 2 22 6 0 0 0 0 0 0 0 0 0 0 35
ABCC8, LOC110121471 4 3 23 8 4 0 0 0 0 0 0 0 0 0 33
BRCA1, LOC126862571 12 0 16 2 2 0 0 0 0 0 0 0 0 0 32
CFTR, LOC111674472 13 8 11 2 0 0 0 0 0 0 0 0 0 0 30
PPP1R3A 1 0 12 5 12 0 0 0 0 0 0 0 0 0 29
KRAS 6 2 13 6 0 0 0 0 0 0 0 0 0 0 27
RBPJ 0 0 6 0 17 0 0 0 0 0 0 0 0 0 23
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 0 0 0 0 0 20
GLUD1, SHLD2 0 0 10 7 0 0 0 0 0 0 0 0 0 0 17
GLUD1, LOC130004255, SHLD2 0 0 7 9 1 0 0 0 0 0 0 0 0 0 16
LOC129931218, SLC16A1 2 0 13 1 0 0 0 0 0 0 0 0 0 0 16
CFTR, LOC111674475 11 2 2 0 0 0 0 0 0 0 0 0 0 2 15
AGPAT2 0 0 10 1 2 0 0 0 0 0 0 0 0 0 13
LIPC 1 1 10 1 0 0 0 0 0 0 0 0 0 0 13
RFX6 1 0 4 7 1 0 0 0 0 0 0 0 0 0 13
GCGR 10 0 1 0 1 0 0 0 0 0 0 0 0 0 12
HADH, LOC129992931 1 0 8 2 4 0 0 0 0 0 0 0 0 0 12
LEPR 0 0 10 2 0 0 0 0 0 0 0 0 0 0 12
PPARG 2 1 5 0 1 0 3 0 0 0 0 0 0 0 12
CFTR, LOC111674477 4 1 1 2 3 0 0 0 0 0 0 0 0 0 11
APPL1 2 0 2 3 4 0 0 0 0 0 0 0 0 0 10
PLIN1 0 0 2 3 5 0 0 0 0 0 0 0 0 0 10
RBPJL 0 0 0 0 8 0 0 0 0 0 0 2 0 0 10
BLK, LOC126860303 0 0 2 3 5 0 0 0 0 0 0 0 0 0 9
BSCL2, HNRNPUL2-BSCL2 1 0 6 1 1 0 0 0 0 0 0 0 0 0 9
EIF2AK3 0 0 5 1 3 0 0 0 0 0 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 0 0 0 0 0 9
MC4R 1 0 5 1 2 0 0 0 0 0 0 0 0 0 9
GATA6 0 0 4 2 2 0 0 0 0 0 0 0 0 0 8
IRS1 2 1 1 3 1 0 0 0 0 0 0 0 0 0 8
LMNA 1 1 3 2 1 0 0 0 0 0 0 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 7 0 0 0 0 0 0 0 0 1 7
ATM 3 0 4 0 0 0 0 0 0 0 0 0 0 0 7
COX4I2 1 0 4 1 1 0 0 0 0 0 0 0 0 0 7
GLUD1, LOC130004254 0 0 2 5 1 0 0 0 0 0 0 0 0 0 7
INS, INS-IGF2, TH 0 0 2 5 5 0 0 0 0 0 0 0 0 0 7
SIM1 0 0 6 1 0 0 0 0 0 0 0 0 0 0 7
CAVIN1 0 0 5 1 0 0 0 0 0 0 0 0 0 0 6
CFTR, LOC111674463 0 1 1 3 1 0 0 0 0 0 0 0 0 0 6
INS 2 1 3 2 0 0 0 0 0 0 0 0 0 3 6
MAFA 2 1 3 0 1 0 0 0 0 0 0 0 0 0 6
​intergenic 0 2 3 0 0 0 0 0 0 0 0 0 0 0 5
ALMS1, LOC126806252 0 0 2 3 0 0 0 0 0 0 0 0 0 0 5
ATM, C11orf65 3 1 1 0 0 0 0 0 0 0 0 0 0 0 5
C10orf67, PTF1A 0 0 0 0 5 0 0 0 0 0 0 0 0 0 5
FOXP3 0 1 3 0 1 0 0 0 0 0 0 0 0 0 5
INSR, LOC129391047 0 0 1 1 3 0 0 0 0 0 0 0 0 0 5
RBPJL, SDC4 0 0 0 0 5 0 0 0 0 0 0 0 0 0 5
CFTR, LOC113633877 1 0 2 0 1 0 0 0 0 0 0 0 0 0 4
CHEK2 3 1 0 0 0 0 0 0 0 0 0 0 0 0 4
INS, TH 0 0 0 4 0 0 0 0 0 0 0 0 0 0 4
LOC127407129, RFX6 0 1 1 1 1 0 0 0 0 0 0 0 0 0 4
PNLIP 1 1 1 0 1 0 0 0 0 0 0 0 0 0 4
PRSS1 2 0 2 0 0 0 0 0 0 0 0 0 0 0 4
SLC19A2 0 0 2 1 1 0 0 0 0 0 0 0 0 0 4
BARD1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 3
CDKAL1 0 0 2 0 0 0 0 0 0 0 0 0 0 1 3
CFTR, LOC113664106 2 1 0 0 0 0 0 0 0 0 0 0 0 0 3
IRS2 0 0 1 0 0 0 0 0 0 0 0 2 0 0 3
LOC130062899, STK11 0 0 2 1 0 0 0 0 0 0 0 0 0 0 3
SLC30A8 0 0 1 0 0 0 0 0 0 0 2 0 0 0 3
ACVR1B 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
BRIP1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
CAV1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2
CD36 0 0 0 0 2 0 0 0 0 0 0 0 0 0 2
CDKN2A 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
CFAP61, CRNKL1, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, RALGAPA2, RIN2, SLC24A3, XRN2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
GPD2 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2
LOC125146351, PLIN1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 2
MATN4, RBPJL 0 0 0 0 2 0 0 0 0 0 0 0 0 0 2
MEN1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
MT-TE 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
PMM2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
TMEM67 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
ACADS 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
ACP7, ACTN4, AKT2, C19orf47, CAPN12, CCNP, CLC, DLL3, DYRK1B, ECH1, EID2, EID2B, FBL, FBXO17, FBXO27, FCGBP, GMFG, HIPK4, HNRNPL, IFNL1, IFNL2, IFNL3, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LRFN1, MAP3K10, MED29, MRPS12, NCCRP1, NFKBIB, PAF1, PAK4, PLD3, PLEKHG2, PRX, PSMC4, RINL, RPS16, SAMD4B, SARS2, SELENOV, SIRT2, SUPT5H, SYCN, TIMM50, TTC9B, ZFP36, ZNF546, ZNF780A, ZNF780B 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
AGMAT, CASP9, CELA2A, CELA2B, CTRC, DDI2, DNAJC16, PLEKHM2, RSC1A1, SLC25A34 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
APPL1, ASB14 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
ARMC9 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
BANF2, BFSP1, CD93, CFAP61, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, DSTN, DTD1, DZANK1, FOXA2, GGTLC1, GZF1, INSM1, KAT14, KIF16B, KIZ, MGME1, NAA20, NAPB, NKX2-2, NKX2-4, NXT1, OTOR, OVOL2, PAX1, PCSK2, PET117, POLR3F, RALGAPA2, RBBP9, RIN2, RRBP1, SCP2D1, SEC23B, SLC24A3, SNRPB2, SNX5, SSTR4, THBD, XRN2, ZNF133 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1
CAPN10 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
CARS2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
CD93, CFAP61, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, FOXA2, GGTLC1, GZF1, INSM1, KIZ, NAPB, NKX2-2, NKX2-4, NXT1, PAX1, RALGAPA2, SSTR4, THBD, XRN2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CFAP61, CRNKL1, DTD1, DZANK1, FOXA2, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, POLR3F, RALGAPA2, RBBP9, RIN2, SCP2D1, SEC23B, SLC24A3, XRN2, ZNF133 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
CLEC5A, MGAM, MTRNR2L6, OR9A4, PRSS1, PRSS37, PRSS58, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TRB 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CTR9 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
EPHB6, TRPV6 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
ERCC4 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
FANCE 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
FANCG 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1
HOXB13 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ITPR3 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
KSR2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
LEP 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1
LEPR, LOC122094844 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC110121472, TCF7L2 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1
LOC126807011, RBPJ 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC126859771, RFX6 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC129931894, SLC19A2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
MAPK8IP1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
MLKL 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MT-TK 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1
MT-TL2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
NBN 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
PIEZO2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
POLD1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
PRKAG2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1
RBBP8 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
RBPJL, SLPI 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1
SAR1B 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
SLC2A4 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
SPG7 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
TBC1D4 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
TCF7L2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 182
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found established risk allele likely risk allele protective risk factor uncertain risk allele not provided total
Fulgent Genetics, Fulgent Genetics 495 332 2076 394 65 0 0 0 0 0 0 0 0 0 3359
Ambry Genetics 98 65 1322 897 66 0 0 0 0 0 0 0 0 0 2448
Labcorp Genetics (formerly Invitae), Labcorp 38 17 953 732 137 0 2 0 0 0 0 1 0 0 1880
Illumina Laboratory Services, Illumina 6 0 1087 338 472 0 0 0 0 0 0 0 0 0 1736
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 57 117 761 155 366 0 3 1 0 134 0 0 150 0 1724
ClinGen Monogenic Diabetes Variant Curation Expert Panel 286 282 297 27 23 0 0 0 0 0 0 0 0 0 915
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 1 0 214 95 120 0 0 0 0 0 0 0 0 0 430
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 149 195 30 30 9 0 0 0 0 0 0 0 0 9 421
Baylor Genetics 99 131 45 0 0 0 0 0 0 0 0 0 0 0 274
OMIM 226 0 6 0 1 0 0 0 0 0 2 8 0 0 243
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 56 43 113 4 5 0 0 0 0 0 0 0 0 0 221
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 0 0 0 0 0 0 0 0 0 217
Counsyl 8 105 87 3 0 0 0 0 0 0 0 0 0 0 203
Sema4, Sema4 10 7 34 50 27 0 0 0 0 0 0 0 0 0 128
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 7 28 40 44 0 0 0 0 0 0 0 0 0 127
New York Genome Center 3 2 117 0 0 0 0 0 0 0 0 0 0 0 122
Mendelics 47 14 19 14 14 0 0 0 0 0 0 0 0 0 108
Juno Genomics, Hangzhou Juno Genomics, Inc 54 32 17 0 0 0 0 0 0 0 0 0 0 0 103
Genetic Services Laboratory, University of Chicago 55 37 4 1 0 0 0 0 0 0 0 0 0 0 97
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 0 0 0 0 0 0 97
GeneReviews 5 0 0 0 1 0 1 0 0 0 0 0 0 85 92
Molecular Genetics, Madras Diabetes Research Foundation 9 35 10 1 0 0 0 0 0 0 0 0 0 0 55
Natera, Inc. 0 4 24 9 8 0 0 0 0 0 0 0 0 0 45
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health 0 0 0 0 43 0 0 0 0 0 0 2 0 0 45
Neuberg Centre For Genomic Medicine, NCGM 14 2 29 0 0 0 0 0 0 0 0 0 0 0 45
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 2 11 29 0 0 0 0 1 0 0 0 0 43
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 26 10 6 0 0 0 0 0 0 0 0 0 0 0 42
Myriad Genetics, Inc. 2 33 7 0 0 0 0 0 0 0 0 0 0 0 42
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 11 9 21 0 0 0 0 0 0 0 0 0 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 9 7 19 2 0 0 0 0 1 0 0 0 0 0 38
Genome-Nilou Lab 1 0 1 1 34 0 0 0 0 0 0 0 0 0 37
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 0 0 0 0 0 0 36
MVZ Medizinische Genetik Mainz 5 13 18 0 0 0 0 0 0 0 0 0 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 18 0 0 0 0 0 0 0 0 0 1 0 0 35
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 6 17 1 0 0 0 0 0 0 0 0 0 0 35
3billion, Medical Genetics 11 9 15 0 0 0 0 0 0 0 0 0 0 0 35
MGZ Medical Genetics Center 6 10 17 0 0 0 0 0 0 0 0 0 0 0 33
Genetics and Molecular Pathology, SA Pathology 8 12 11 1 0 0 0 0 0 0 0 0 0 0 32
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 17 8 3 1 0 0 0 0 0 0 0 0 0 0 29
CZECANCA consortium 24 5 0 0 0 0 0 0 0 0 0 0 0 0 29
Translational Genomics Laboratory, University of Maryland School of Medicine 15 13 0 0 0 0 0 0 0 0 0 0 0 0 28
Pars Genome Lab 0 0 1 6 19 0 0 0 0 0 0 0 0 0 26
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 16 6 3 0 0 0 0 0 0 0 0 0 0 0 25
Department of Pathology and Laboratory Medicine, Sinai Health System 6 1 15 1 0 0 0 0 0 1 0 0 0 0 24
Molecular Genetics, Royal Melbourne Hospital 5 5 8 1 2 0 0 0 0 0 0 0 0 0 21
Revvity Omics, Revvity 1 3 16 0 0 0 0 0 0 0 0 0 0 0 20
National Newborn Screening Laboratory, Hospital Nacional de Niños 3 17 0 0 0 0 0 0 0 0 0 0 0 0 20
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 0 0 0 0 0 19 19
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 4 3 9 0 2 0 0 0 0 0 0 0 0 0 18
Clinical Genomics Laboratory, Washington University in St. Louis 4 2 9 0 0 0 0 0 0 0 0 0 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 5 6 0 0 0 0 0 0 0 0 0 0 0 15
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 0 0 0 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 4 4 0 0 0 0 0 0 0 0 0 0 0 12
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 7 0 0 0 0 0 0 0 0 0 0 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 0 2 1 0 0 0 0 0 0 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 4 0 1 0 0 0 0 0 0 0 0 0 10
Leiden Open Variation Database 2 0 8 0 0 0 0 0 0 0 0 0 0 0 10
Athena Diagnostics 0 0 0 0 9 0 0 0 0 0 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 5 0 0 0 0 0 0 0 0 0 0 0 9
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 0 0 0 0 0 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 4 1 3 0 0 0 0 0 0 0 0 0 0 0 8
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 0 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 5 0 0 0 0 0 0 0 0 0 0 0 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 7 0 0 0 0 0 0 0 0 0 0 0 0 8
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 4 0 0 0 0 0 0 0 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 0 0 0 0 0 0 0 0 8
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1 1 4 1 0 0 0 0 0 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 0 0 0 7 7
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 5 2 0 0 0 0 0 0 0 0 0 0 0 0 7
Department of Clinical Genetics, Medical University of Lodz 3 4 0 0 0 0 0 0 0 0 0 0 0 0 7
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 3 0 0 0 0 0 0 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 2 0 0 0 0 0 0 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 0 0 0 6 6
Department of Human Genetics, Hannover Medical School 2 1 3 0 0 0 0 0 0 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 1 0 0 0 0 0 0 0 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 3 0 0 0 0 0 0 0 0 0 0 0 0 5
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 3 1 0 0 0 1 0 0 0 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 0 0 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 2 0 0 0 0 0 0 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 2 0 0 0 0 0 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 1 0 0 0 0 0 0 0 0 0 0 0 5
Human Genetics Bochum, Ruhr University Bochum 3 2 0 0 0 0 0 0 0 0 0 0 0 0 5
Monogenic Research Group, University Of Exeter Medical School 4 1 0 0 0 0 0 0 0 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 1 0 0 0 0 0 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 0 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 2 0 0 0 0 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 1 0 0 0 0 0 0 0 0 0 0 0 4
NxGen MDx 0 3 1 0 0 0 0 0 0 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 1 0 0 0 0 0 0 0 0 0 0 0 0 4
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 2 1 1 0 0 0 0 0 0 0 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 2 1 1 0 0 0 0 0 0 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 1 3 0 0 0 0 0 0 0 0 0 0 0 0 4
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 4 0 0 0 0 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 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 0 0 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 0 0 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 0 0 0 0 0 0 0 3
Obstetrics and Gynaecology Department, Chinese University of Hong Kong 0 0 0 0 0 0 3 0 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 1 0 0 0 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 0 0 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 3 0 0 0 0 0 0 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 2 0 0 0 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Eurofins-Biomnis 0 3 0 0 0 0 0 0 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 0 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 1 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 0 0 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 0 0 0 0 0 0 0 2
Snyder Lab, Genetics Department, Stanford University 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 0 0 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2
DASA 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2
Faculté de Médecine, de Pharmacie et d'odontostomatologie, Université Cheikh Anta Diop 0 0 0 0 2 0 0 0 0 0 0 0 0 0 2
Ganetzky Laboratory, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Smedley Team, Phenogenomics Group, Queen Mary University of London 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 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 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
SNPedia 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Sidra Medicine 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 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 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory for Clinical Genomics and Advanced Technology, Dartmouth-Hitchcock Medical Center 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 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 0 0 0 1
Department of Endocrinology, Antwerp University Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
iDNA Genomics 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Research and Development Department, MaiDa Gene Technology 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1

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