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FAM124A

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
52
Likely pathogenic
0
VUS
1,188
Likely benign
988
Benign
0

Patient phenotypes

Proportions of phenotypes among 52 patients carring pathogenic or likely pathogenic variants on FAM124A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.6%
Abnormality of the cardiovascular system
26.9%
Abnormality of head or neck
19.2%
Abnormality of the eye
19.2%
Abnormality of the musculoskeletal system
15.4%
Abnormality of the ear
13.5%
Growth abnormality
11.5%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Neoplasm
5.8%
Abnormality of the digestive system
3.8%
Abnormality of the integument
3.8%
Constitutional symptom
3.8%
Abnormality of prenatal development or birth
1.9%
Abnormality of the endocrine system
1.9%
Abnormality of the voice
1.9%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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