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 |
risk factor |
total |
128
|
109
|
55
|
2
|
2
|
3
|
299
|
Gene and significance breakdown #
Total genes and gene combinations: 37
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
not provided
|
46
|
28
|
7
|
0 |
0 |
0 |
81
|
3-Methylglutaconic aciduria type 2
|
10
|
31
|
17
|
0 |
0 |
0 |
58
|
Brain-lung-thyroid syndrome
|
17
|
23
|
1
|
0 |
0 |
0 |
41
|
Rett syndrome
|
14
|
7
|
5
|
2
|
1
|
0 |
29
|
not specified
|
0 |
0 |
13
|
0 |
1
|
0 |
14
|
Pendred syndrome
|
5
|
3
|
4
|
0 |
0 |
0 |
12
|
Microcephalic osteodysplastic primordial dwarfism type II
|
2
|
6
|
0 |
0 |
0 |
0 |
8
|
Feingold syndrome type 1
|
5
|
2
|
0 |
0 |
0 |
0 |
7
|
Costello syndrome
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Autosomal recessive multiple pterygium syndrome
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Kugelberg-Welander disease
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Werdnig-Hoffmann disease
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Focal segmental glomerulosclerosis 4, susceptibility to
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Hypercholesterolemia, familial, 1
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
X-linked Emery-Dreifuss muscular dystrophy
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Benign hereditary chorea
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Glycogen storage disease, type V
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Hypercalcemia, infantile, 1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Hypouricemia, renal, 2
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Spinal muscular atrophy, type II
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Acrodysostosis 1 with or without hormone resistance
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Charcot-Marie-Tooth disease axonal type 2C
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dalmatian hypouricemia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Familial hypocalciuric hypercalcemia 1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Familial hypoparathyroidism
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Feingold syndrome type 2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Finnish congenital nephrotic syndrome
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Metatropic dysplasia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Noonan syndrome 4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Noonan syndrome-like disorder with loose anagen hair 1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Spinal muscular atrophy, type IV
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Spondylometaphyseal dysplasia, Kozlowski type
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TARP syndrome
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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