Home > Gene Browser > TSTD2

TSTD2

Synonyms
C9orf97
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
7
Likely pathogenic
1,594
VUS
4,218
Likely benign
29
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1600 patients carrying pathogenic or likely pathogenic variants on TSTD2 gene are displayed below. The following symptoms were found in patients with a variant in TSTD2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.6%
Abnormality of the musculoskeletal system
32.9%
Abnormality of head or neck
27.6%
Abnormality of the cardiovascular system
20.1%
Abnormality of the eye
19.1%
Growth abnormality
17.9%
Abnormality of the ear
17.1%
Abnormality of limbs
12.9%
Abnormality of the integument
11.1%
Abnormality of the genitourinary system
11%
Abnormality of metabolism homeostasis
9.4%
Abnormality of the digestive system
8.3%
Abnormality of the immune system
5.9%
Abnormality of blood and blood forming tissues
5.4%
Abnormality of the respiratory system
4.7%
Abnormality of the endocrine system
4%
Abnormality of prenatal development or birth
3.3%
Neoplasm
2.6%
Abnormality of the breast
0.9%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.4%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

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