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FAM13A

Synonyms
ARHGAP48, FAM13A1
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
18
VUS
7,351
Likely benign
2,084
Benign
0

Patient Phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on FAM13A gene are displayed below. The following symptoms were found in patients with a variant in FAM13A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.7%
Abnormality of the musculoskeletal system
36.7%
Abnormality of head or neck
26.7%
Abnormality of limbs
16.7%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the integument
16.7%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of blood and blood forming tissues
10%
Abnormality of the cardiovascular system
10%
Abnormality of the endocrine system
10%
Abnormality of the eye
10%
Abnormality of the respiratory system
10%
Growth abnormality
10%
Abnormality of the digestive system
3.3%
Abnormality of the immune system
3.3%
Constitutional symptom
3.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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