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PBLD

Synonyms
HEL-S-306, MAWBP, MAWDBP
External resources

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
1
VUS
4,797
Likely benign
544
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carring pathogenic or likely pathogenic variants on PBLD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
58.3%
Abnormality of the nervous system
41.7%
Abnormality of the musculoskeletal system
25%
Growth abnormality
25%
Abnormality of head or neck
16.7%
Abnormality of limbs
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of prenatal development or birth
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the integument
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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