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SPATC1

Synonyms
SPATA15
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
23
Likely pathogenic
57
VUS
2,026
Likely benign
45
Benign
0

Patient Phenotypes

Proportions of phenotypes among 79 patients carrying pathogenic or likely pathogenic variants on SPATC1 gene are displayed below. The following symptoms were found in patients with a variant in SPATC1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.7%
Abnormality of the musculoskeletal system
29.1%
Abnormality of head or neck
22.8%
Abnormality of the eye
21.5%
Abnormality of the integument
21.5%
Abnormality of blood and blood forming tissues
19%
Abnormality of limbs
17.7%
Abnormality of the ear
17.7%
Growth abnormality
12.7%
Abnormality of the cardiovascular system
10.1%
Abnormality of the digestive system
8.9%
Abnormality of the immune system
8.9%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the endocrine system
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the respiratory system
3.8%
Neoplasm
3.8%
Abnormal cellular phenotype
2.5%
Abnormality of the breast
2.5%
Abnormality of the voice
1.3%
Constitutional symptom
1.3%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%

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