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FAM13B

Synonyms
ARHGAP49, C5orf5, FAM13B1, KHCHP, N61
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
6
Likely pathogenic
0
VUS
6,334
Likely benign
320
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on FAM13B gene are displayed below. The following symptoms were found in patients with a variant in FAM13B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
66.7%
Abnormality of the immune system
66.7%
Abnormality of the digestive system
50%
Abnormality of head or neck
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the nervous system
16.7%
Abnormality of the respiratory system
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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