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 |
31
|
13
|
15
|
0 |
0 |
59
|
Gene and significance breakdown #
Total genes and gene combinations: 21
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Microcephaly 5, primary, autosomal recessive
|
13
|
0 |
0 |
13
|
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
6
|
3
|
2
|
11
|
Primary microcephaly
|
0 |
0 |
8
|
8
|
Microcephaly 1, primary, autosomal recessive
|
2
|
1
|
0 |
3
|
Microcephaly 3, primary, autosomal recessive
|
1
|
0 |
2
|
3
|
Microcephaly 8, primary, autosomal recessive
|
0 |
0 |
3
|
3
|
Microcephaly 9, primary, autosomal recessive
|
0 |
3
|
0 |
3
|
Bloom syndrome
|
2
|
0 |
0 |
2
|
DNA ligase IV deficiency
|
1
|
1
|
0 |
2
|
Microcephaly and chorioretinopathy 1
|
0 |
2
|
0 |
2
|
Cockayne syndrome type 1
|
1
|
0 |
0 |
1
|
Hereditary spastic paraplegia 50
|
0 |
1
|
0 |
1
|
Intellectual disability, autosomal recessive 13
|
0 |
1
|
0 |
1
|
Lissencephaly due to TUBA1A mutation
|
1
|
0 |
0 |
1
|
Microcephalic primordial dwarfism due to RTTN deficiency
|
1
|
0 |
0 |
1
|
Microcephaly 4, primary, autosomal recessive
|
1
|
0 |
0 |
1
|
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
|
1
|
0 |
0 |
1
|
Microcephaly, seizures, and developmental delay
|
1
|
0 |
0 |
1
|
Microcephaly, short stature, and impaired glucose metabolism 1
|
0 |
1
|
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
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
contained on this website, please see a health care
professional.