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SFT2D3

Synonyms
-
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
42
Likely pathogenic
0
VUS
3,402
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on SFT2D3 gene are displayed below. The following symptoms were found in patients with a variant in SFT2D3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
26.2%
Abnormality of head or neck
14.3%
Abnormality of the eye
14.3%
Abnormality of the cardiovascular system
11.9%
Abnormality of the genitourinary system
11.9%
Abnormality of the integument
11.9%
Abnormality of the musculoskeletal system
9.5%
Growth abnormality
9.5%
Abnormality of limbs
7.1%
Abnormality of the immune system
7.1%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of metabolism homeostasis
4.8%
Abnormality of the ear
4.8%
Abnormal cellular phenotype
2.4%
Abnormality of the digestive system
2.4%
Abnormality of the respiratory system
2.4%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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