ClinVar Miner

Variants from Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University

Location: Thailand  Primary collection method: clinical testing
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 total
33 12 2 0 0 47

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RUNX2 5 0 0 5
FAM20A, PRKAR1A 2 2 0 4
ALPL 2 0 0 2
AXIN2 1 0 1 2
BMP1 1 1 0 2
COL1A2 1 1 0 2
DSPP 2 0 0 2
FGFR3 2 0 0 2
HMGCS2 1 1 0 2
ITGB6 1 1 0 2
LTBP3 2 0 0 2
NEUROG3 2 0 0 2
PAX9 1 1 0 2
PYCR2 0 2 0 2
ASCL5 0 1 0 1
CNNM4 1 0 0 1
CRTAP 1 0 0 1
CRTAP, LOC129936436 1 0 0 1
EDARADD 0 1 0 1
EFNB1 1 0 0 1
ELANE 1 0 0 1
IDH1 1 0 0 1
KDF1 0 1 0 1
LOC130059892, SERPINF1 1 0 0 1
LRP6 1 0 0 1
POLG 1 0 0 1
POLG, POLGARF 1 0 0 1
WNT10A 0 0 1 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance total
Cleidocranial dysostosis 5 0 0 5
Amelogenesis imperfecta type 1G 2 2 0 4
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 1 1 0 2
Amelogenesis imperfecta type 1H 1 1 0 2
Childhood hypophosphatasia 2 0 0 2
Childhood myocerebrohepatopathy spectrum 2 0 0 2
Congenital malabsorptive diarrhea 4 2 0 0 2
Dentinogenesis imperfecta type 2 2 0 0 2
Hypomyelinating leukodystrophy 10 0 2 0 2
Oligodontia-cancer predisposition syndrome 1 0 1 2
Osteogenesis imperfecta type 13 1 1 0 2
Osteogenesis imperfecta type 7 2 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 0 2
Tooth agenesis, selective, 3 1 1 0 2
Achondroplasia 1 0 0 1
Brachyolmia-amelogenesis imperfecta syndrome 1 0 0 1
Craniofrontonasal syndrome 1 0 0 1
Geleophysic dysplasia 3 1 0 0 1
Glioma susceptibility 1 1 0 0 1
Hypochondroplasia 1 0 0 1
Jalili syndrome 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 1 0 0 1
Osteogenesis imperfecta type 6 1 0 0 1
Partial congenital absence of teeth 0 1 0 1
Teeth, odd shapes of 0 1 0 1
Tooth agenesis 0 1 0 1
Tooth agenesis, selective, 4 0 0 1 1
Tooth agenesis, selective, 7 1 0 0 1

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