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FAM149B1

Synonyms
JBTS36, KIAA0974
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
19
Likely pathogenic
0
VUS
5,671
Likely benign
201
Benign
550

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on FAM149B1 gene are displayed below. The following symptoms were found in patients with a variant in FAM149B1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
36.8%
Abnormality of the musculoskeletal system
36.8%
Abnormality of the nervous system
36.8%
Abnormality of head or neck
26.3%
Abnormality of the ear
26.3%
Abnormality of the integument
15.8%
Abnormality of limbs
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the immune system
10.5%
Abnormality of blood and blood forming tissues
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the voice
5.3%
Constitutional symptom
5.3%
Growth abnormality
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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