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RAB40B

Synonyms
RAR, SEC4L
External resources
Summary
The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles.

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
29
Likely pathogenic
33
VUS
2,375
Likely benign
4
Benign
0

Patient phenotypes

Proportions of phenotypes among 60 patients carring pathogenic or likely pathogenic variants on RAB40B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
26.7%
Abnormality of the nervous system
23.3%
Abnormality of the eye
21.7%
Abnormality of head or neck
15%
Abnormality of the ear
13.3%
Abnormality of the digestive system
11.7%
Abnormality of the immune system
10%
Abnormality of the musculoskeletal system
10%
Abnormality of the cardiovascular system
8.3%
Abnormality of the integument
8.3%
Abnormality of limbs
3.3%
Abnormality of the genitourinary system
3.3%
Constitutional symptom
3.3%
Growth abnormality
3.3%
Abnormality of the endocrine system
1.7%
Abnormality of the respiratory system
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%
Neoplasm
0%

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