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STATH

Synonyms
STR
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
0
Likely pathogenic
122
VUS
315
Likely benign
3
Benign
0

Patient Phenotypes

Proportions of phenotypes among 122 patients carrying pathogenic or likely pathogenic variants on STATH gene are displayed below. The following symptoms were found in patients with a variant in STATH. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of the musculoskeletal system
27.9%
Abnormality of the cardiovascular system
20.5%
Abnormality of head or neck
18.9%
Abnormality of the eye
17.2%
Abnormality of the ear
13.9%
Abnormality of the integument
12.3%
Abnormality of limbs
10.7%
Abnormality of the genitourinary system
10.7%
Abnormality of blood and blood forming tissues
9.8%
Abnormality of metabolism homeostasis
8.2%
Growth abnormality
8.2%
Abnormality of the digestive system
6.6%
Abnormality of the immune system
6.6%
Abnormality of prenatal development or birth
5.7%
Abnormality of the endocrine system
4.1%
Neoplasm
3.3%
Abnormality of the respiratory system
2.5%
Constitutional symptom
1.6%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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