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DYNC1LI2

Synonyms
DNCLI2, LIC2
External resources
Summary
Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
4,461
Likely benign
260
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on DYNC1LI2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
50%
Abnormality of the eye
50%
Abnormality of the genitourinary system
50%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Growth abnormality
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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