ClinVar Miner

Variants studied for diabetes mellitus, noninsulin-dependent

Included ClinVar conditions (11):
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 protective risk factor not provided total
27 6 36 4 48 1 3 2 24 2 152

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association protective risk factor not provided total
RBPJ 0 0 0 0 17 0 0 0 0 0 17
WFS1 1 0 15 0 0 0 0 0 0 0 16
ABCC8 4 3 4 1 0 0 0 0 0 0 12
RBPJL 0 0 0 0 8 0 0 0 2 0 10
HNF1A 3 0 2 0 0 0 0 0 1 1 7
AKT2 1 0 0 1 4 0 0 0 0 0 6
GCK 4 1 1 0 0 0 0 0 0 0 6
IRS1 2 0 1 2 1 0 0 0 0 0 6
PDX1 0 0 1 0 0 0 0 0 6 0 6
HNF4A 2 0 3 0 0 0 0 0 0 0 5
KCNJ11 1 1 2 0 0 0 0 0 0 1 5
PTF1A 0 0 0 0 5 0 0 0 0 0 5
RBPJL, SDC4 0 0 0 0 5 0 0 0 0 0 5
SLC2A2 2 0 2 0 0 1 0 0 0 0 5
C10orf67, PTF1A 0 0 0 0 4 0 0 0 0 0 4
CAPN10 0 0 0 0 0 0 0 0 4 0 4
PPARG 0 0 0 0 0 0 3 0 0 0 3
CDKAL1 0 0 2 0 0 0 0 0 0 0 2
ENPP1 0 0 0 0 0 0 0 0 2 0 2
HNF1B 1 0 1 0 0 0 0 0 0 0 2
INSR 1 0 1 0 0 0 0 0 0 0 2
MATN4, RBPJL 0 0 0 0 2 0 0 0 0 0 2
SLC30A8 0 0 0 0 0 0 0 2 0 0 2
TCF7L2 0 0 0 0 0 0 0 0 2 0 2
ABCC8, KCNJ11 0 0 0 0 0 0 0 0 1 0 1
C10orf67, LINC01552, PTF1A 0 0 0 0 1 0 0 0 0 0 1
GCGR 1 0 0 0 0 0 0 0 0 0 1
GPD2 1 0 0 0 0 0 0 0 0 0 1
HMGA1 0 0 0 0 0 0 0 0 1 0 1
IGF2BP2 0 0 0 0 0 0 0 0 1 0 1
IL6 0 0 0 0 0 0 0 0 1 0 1
LIPC 0 0 0 0 0 0 0 0 1 0 1
LOC110121472, TCF7L2 0 0 0 0 0 0 0 0 1 0 1
MAPK8IP1 1 0 0 0 0 0 0 0 0 0 1
NEUROD1 1 0 0 0 0 0 0 0 0 0 1
PAX4 1 0 0 0 0 0 0 0 0 0 1
RBPJL, SLPI 0 0 0 0 1 0 0 0 0 0 1
RETN 0 0 0 0 0 0 0 0 1 0 1
SLC2A4 0 0 1 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association protective risk factor not provided total
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch,National Institutes of Health 0 0 0 0 43 0 0 0 2 0 45
OMIM 14 0 4 0 0 0 0 2 22 0 42
Fulgent Genetics 10 5 27 0 0 0 0 0 0 0 42
Invitae 0 0 0 1 4 0 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 1 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 1 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 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 1 0 0 0 0 0 3
SNPedia 0 0 0 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 1 1

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