Home > Gene Browser > BTBD3

BTBD3

Synonyms
dJ742J24.1
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
15
Likely pathogenic
0
VUS
1,391
Likely benign
16
Benign
0

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on BTBD3 gene are displayed below. The following symptoms were found in patients with a variant in BTBD3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of head or neck
53.3%
Abnormality of the musculoskeletal system
40%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of metabolism homeostasis
26.7%
Abnormality of the digestive system
26.7%
Abnormality of the ear
26.7%
Growth abnormality
26.7%
Abnormality of blood and blood forming tissues
20%
Abnormality of the integument
20%
Abnormality of limbs
13.3%
Abnormality of the immune system
6.7%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.