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C20orf144

Synonyms
dJ63M2.6
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
63
Likely pathogenic
0
VUS
758
Likely benign
28
Benign
0

Patient Phenotypes

Proportions of phenotypes among 63 patients carrying pathogenic or likely pathogenic variants on C20orf144 gene are displayed below. The following symptoms were found in patients with a variant in C20orf144. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
38.1%
Abnormality of the nervous system
38.1%
Abnormality of head or neck
12.7%
Abnormality of the eye
12.7%
Abnormality of the ear
9.5%
Abnormality of the musculoskeletal system
9.5%
Abnormality of the genitourinary system
7.9%
Abnormality of the integument
7.9%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of limbs
4.8%
Abnormality of metabolism homeostasis
4.8%
Abnormality of the immune system
4.8%
Abnormality of the digestive system
3.2%
Constitutional symptom
3.2%
Abnormality of prenatal development or birth
1.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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