Home > Gene Browser > RAD21L1

RAD21L1

Synonyms
RAD21L, dJ545L17.2
External resources
Summary
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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
10
Likely pathogenic
1
VUS
1,518
Likely benign
294
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on RAD21L1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of head or neck
27.3%
Abnormality of the ear
27.3%
Growth abnormality
27.3%
Abnormality of limbs
18.2%
Abnormality of the eye
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the integument
9.1%
Abnormality of the respiratory system
9.1%
Neoplasm
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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