ClinVar Miner

Variants studied for Monogenic diabetes

Coded as:
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Gene type:

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 total
378 371 559 128 154 1558

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GCK 215 190 87 8 4 484
HNF1A 109 114 155 14 19 404
HNF4A 48 52 99 12 9 215
ALMS1 0 0 4 35 26 65
WFS1 0 0 30 7 14 51
GLIS3 0 0 18 5 6 29
PPP1R3A 0 0 11 5 9 25
C12orf43, HNF1A 2 6 12 1 3 24
ABCC8 0 3 12 1 2 18
AGPAT2 0 0 9 1 3 13
RFX6 0 1 4 7 1 13
LEPR 0 0 10 2 0 12
BLK 0 0 6 1 4 11
INSR 0 0 5 4 2 11
PDX1 0 0 6 0 5 11
PLIN1 0 0 2 3 5 10
ZFP57 0 0 5 0 5 10
BSCL2, HNRNPUL2-BSCL2 1 0 6 1 1 9
EIF2AK3 0 0 5 1 3 9
HADH 0 0 7 0 2 9
MC4R 1 0 5 1 2 9
GATA6 0 0 4 2 2 8
HNF1B 0 0 6 1 1 8
KLF11 0 0 2 2 4 8
PAX4 0 0 3 2 3 8
CEL 0 0 2 1 4 7
KCNJ11 0 1 4 0 2 7
PTF1A 0 0 7 0 0 7
SIM1 0 0 6 1 0 7
CAVIN1 0 0 5 1 0 6
LMNA 1 1 2 1 1 6
SLC2A2 0 0 3 0 3 6
ALMS1, LOC126806252 0 0 2 3 0 5
SLC19A2 0 0 2 1 1 4
​intergenic 0 2 1 0 0 3
FOXP3 0 0 2 0 1 3
LOC127407129, RFX6 0 0 1 1 1 3
PPARG 0 0 3 0 0 3
APPL1 0 0 2 0 0 2
CAV1 0 0 2 0 0 2
INS, INS-IGF2 1 1 0 0 0 2
LOC125146351, PLIN1 0 0 0 1 1 2
NEUROD1 0 0 1 0 1 2
BLK, LOC126860303 0 0 1 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 0 0 1 1
GLUD1 0 0 1 0 0 1
GLUD1, LOC130004254 0 0 0 0 1 1
GLUD1, LOC130004255, SHLD2 0 0 0 1 0 1
LEP 0 0 0 0 1 1
LEPR, LOC122094844 0 0 0 0 1 1
LOC126859771, RFX6 0 0 0 1 0 1
LOC129931894, SLC19A2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ClinGen Monogenic Diabetes Variant Curation Expert Panel 344 341 332 33 33 1080
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 1 0 213 95 121 430
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 50 24 0 0 0 74
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 13 0 0 19
Translational Genomics Laboratory, University of Maryland School of Medicine 7 7 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 0 2 10
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 1 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 2
Smedley Team, Phenogenomics Group, Queen Mary University of London 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1

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