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SPDYE16

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
9
Likely pathogenic
0
VUS
112
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on SPDYE16 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
37.5%
Abnormality of the genitourinary system
37.5%
Abnormality of blood and blood-forming tissues
25%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Abnormality of the nervous system
25%
Abnormality of the ear
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the respiratory system
12.5%
Constitutional symptom
12.5%
Growth abnormality
12.5%
Neoplasm
12.5%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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