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 | not provided | total |
---|---|---|---|---|---|---|
609 | 538 | 354 | 372 | 69 | 513 | 1566 |
Condition and significance breakdown #
Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
Phenylketonuria | 599 | 521 | 278 | 354 | 38 | 8 | 1420 |
not provided | 138 | 42 | 47 | 15 | 54 | 512 | 618 |
not specified | 0 | 0 | 62 | 10 | 15 | 0 | 86 |
PAH-related disorder | 42 | 7 | 6 | 4 | 2 | 0 | 61 |
Inborn genetic diseases | 27 | 2 | 15 | 11 | 0 | 0 | 55 |
Hyperphenylalaninemia | 23 | 0 | 1 | 0 | 0 | 0 | 23 |
See cases | 7 | 4 | 2 | 0 | 0 | 0 | 13 |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 9 | 1 | 0 | 0 | 0 | 0 | 10 |
Intellectual disability | 0 | 0 | 1 | 2 | 0 | 0 | 3 |
Pulmonary hypertension, primary, 1 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
Mild non-PKU hyperphenylalanemia | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
Malignant tumor of breast | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Marfanoid habitus and intellectual disability | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Mild hyperphenylalaninemia | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Pituitary hormone deficiency, combined, 2 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Propionic acidemia | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
RASopathy | 0 | 1 | 0 | 0 | 0 | 0 | 1 |