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TTC23L

Synonyms
MC25-1
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
25
Likely pathogenic
46
VUS
1,842
Likely benign
1,245
Benign
0

Patient Phenotypes

Proportions of phenotypes among 71 patients carrying pathogenic or likely pathogenic variants on TTC23L gene are displayed below. The following symptoms were found in patients with a variant in TTC23L. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.7%
Abnormality of the musculoskeletal system
31%
Abnormality of the eye
25.4%
Abnormality of head or neck
18.3%
Abnormality of the ear
14.1%
Growth abnormality
14.1%
Abnormality of the integument
11.3%
Abnormality of the cardiovascular system
9.9%
Abnormality of limbs
8.5%
Abnormality of the digestive system
7%
Abnormality of the immune system
7%
Abnormality of metabolism homeostasis
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of blood and blood forming tissues
2.8%
Abnormality of prenatal development or birth
2.8%
Abnormality of the endocrine system
2.8%
Constitutional symptom
2.8%
Abnormality of the respiratory system
1.4%
Abnormality of the voice
1.4%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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