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 |
likely risk allele |
protective |
risk factor |
not provided |
total |
118
|
128
|
79
|
10
|
69
|
1
|
5
|
1
|
7
|
2
|
4
|
3
|
424
|
Gene and significance breakdown #
Total genes and gene combinations: 46
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
association not found |
likely risk allele |
protective |
risk factor |
not provided |
total |
ABCC8
|
86
|
91
|
14
|
1
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
195
|
KCNJ11
|
5
|
25
|
4
|
0 |
3
|
0 |
1
|
1
|
4
|
0 |
0 |
1
|
43
|
RBPJ
|
0 |
0 |
6
|
0 |
17
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
23
|
WFS1
|
6
|
1
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
RBPJL
|
0 |
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
10
|
GCK
|
2
|
3
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
HNF1A
|
0 |
2
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
9
|
HNF1B
|
4
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
SLC2A2
|
2
|
0 |
3
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
AKT2
|
1
|
0 |
4
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
IRS1
|
2
|
0 |
1
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
ENPP1
|
1
|
1
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
HNF4A
|
1
|
0 |
3
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
C10orf67, PTF1A
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
LIPC
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
PPARG
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
5
|
PTF1A
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
RBPJL, SDC4
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
PDX1
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PPP1R3A
|
0 |
0 |
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ABCC8, LOC110121471
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CDKAL1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3
|
INSR
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
IRS2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
3
|
PAX4
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SLC30A8
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
3
|
CD36
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GPD2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
INS, INS-IGF2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
MATN4, RBPJL
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ABCC8, KCNJ11
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ACADS
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C12orf43, HNF1A
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CEL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GCGR
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HNF1B, LOC126862549
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
INS
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
INS, INS-IGF2, TH
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KLF11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC110121472, TCF7L2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126807011, RBPJ
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAPK8IP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NEUROD1
|
1
|
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 |
1
|
SLC2A4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TCF7L2
|
0 |
0 |
1
|
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 |
association not found |
likely risk allele |
protective |
risk factor |
not provided |
total |
Baylor Genetics
|
88
|
117
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
216
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
2
|
18
|
2
|
16
|
0 |
2
|
1
|
6
|
0 |
0 |
0 |
47
|
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health
|
0 |
0 |
0 |
0 |
43
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
45
|
OMIM
|
14
|
0 |
4
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
2
|
0 |
23
|
Mendelics
|
6
|
4
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
16
|
New York Genome Center
|
1
|
0 |
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
1
|
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 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
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 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SNPedia
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
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 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
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 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
iDNA Genomics
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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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
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