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CYB5D1

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
12
Likely pathogenic
0
VUS
2,184
Likely benign
179
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carring pathogenic or likely pathogenic variants on CYB5D1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the eye
41.7%
Abnormality of the nervous system
41.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the ear
25%
Abnormality of the integument
25%
Growth abnormality
16.7%
Abnormality of limbs
8.3%
Abnormality of prenatal development or birth
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the respiratory system
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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