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CFAP99

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
25
Likely pathogenic
0
VUS
3,570
Likely benign
1,381
Benign
0

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on CFAP99 gene are displayed below. The following symptoms were found in patients with a variant in CFAP99. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.2%
Abnormality of the eye
26.1%
Abnormality of head or neck
17.4%
Abnormality of the musculoskeletal system
17.4%
Abnormality of the cardiovascular system
13%
Growth abnormality
13%
Abnormal cellular phenotype
4.3%
Abnormality of blood and blood forming tissues
4.3%
Abnormality of metabolism homeostasis
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the genitourinary system
4.3%
Abnormality of the immune system
4.3%
Neoplasm
4.3%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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