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SDCBP2

Synonyms
SITAC, SITAC18, ST-2, ST2
External resources
Summary
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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
2
Likely pathogenic
40
VUS
2,189
Likely benign
299
Benign
0

Patient Phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on SDCBP2 gene are displayed below. The following symptoms were found in patients with a variant in SDCBP2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
35.7%
Abnormality of the eye
31%
Abnormality of the integument
26.2%
Abnormality of head or neck
23.8%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of limbs
11.9%
Growth abnormality
11.9%
Abnormality of metabolism homeostasis
7.1%
Abnormality of the cardiovascular system
4.8%
Abnormality of the digestive system
4.8%
Abnormality of the immune system
4.8%
Abnormality of blood and blood forming tissues
2.4%
Abnormality of the breast
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
2.4%
Constitutional symptom
2.4%
Neoplasm
2.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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