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C11orf54

Synonyms
PTD012, PTOD012
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
6
Likely pathogenic
0
VUS
4,465
Likely benign
2,138
Benign
0

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on C11orf54 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
83.3%
Abnormality of the musculoskeletal system
83.3%
Abnormality of the nervous system
83.3%
Abnormality of the cardiovascular system
66.7%
Abnormality of the endocrine system
66.7%
Growth abnormality
50%
Abnormality of limbs
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the ear
33.3%
Abnormality of the immune system
33.3%
Abnormality of the integument
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of prenatal development or birth
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the respiratory system
16.7%
Constitutional symptom
16.7%
Neoplasm
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the eye
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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