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RAB40A

Synonyms
RAR2, RAR2A
External resources
Summary
This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box.

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
5
Likely pathogenic
55
VUS
2,604
Likely benign
144
Benign
0

Patient phenotypes

Proportions of phenotypes among 60 patients carring pathogenic or likely pathogenic variants on RAB40A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.7%
Abnormality of the musculoskeletal system
25%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
18.3%
Abnormality of head or neck
16.7%
Abnormality of the digestive system
10%
Abnormality of the eye
10%
Abnormality of the integument
10%
Abnormality of the immune system
8.3%
Growth abnormality
8.3%
Abnormality of limbs
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the respiratory system
5%
Neoplasm
3.3%
Abnormality of the endocrine system
1.7%
Constitutional symptom
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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