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 |
|
35
|
17
|
2
|
0 |
0 |
54
|
Gene and significance breakdown #
Total genes and gene combinations: 32
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
Cleidocranial dysostosis
|
5
|
0 |
0 |
5
|
|
Amelogenesis imperfecta type 1G
|
2
|
2
|
0 |
4
|
|
Tooth agenesis, selective, 3
|
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
|
|
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
|
0 |
2
|
0 |
2
|
|
Hypodontia
|
0 |
2
|
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
|
|
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
|
|
Hypogonadotropic hypogonadism 5 with or without anosmia
|
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
|
|
Teeth, odd shapes of
|
0 |
1
|
0 |
1
|
|
Tooth agenesis
|
0 |
1
|
0 |
1
|
|
Tooth agenesis, selective, 1
|
0 |
1
|
0 |
1
|
|
Tooth agenesis, selective, 4
|
0 |
0 |
1
|
1
|
|
Tooth agenesis, selective, 7
|
1
|
0 |
0 |
1
|
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