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STEAP1B

Synonyms
-
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
15
Likely pathogenic
0
VUS
3,974
Likely benign
143
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on STEAP1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
46.7%
Abnormality of the nervous system
33.3%
Growth abnormality
33.3%
Abnormality of head or neck
26.7%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of limbs
13.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the ear
13.3%
Abnormality of the eye
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the immune system
13.3%
Abnormality of the integument
13.3%
Abnormality of the digestive system
6.7%
Constitutional symptom
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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