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RAB38

Synonyms
NY-MEL-1, rrGTPbp
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
13
Likely pathogenic
0
VUS
610
Likely benign
10
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on RAB38 gene are displayed below. The following symptoms were found in patients with a variant in RAB38. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
46.2%
Abnormality of the eye
46.2%
Abnormality of head or neck
30.8%
Abnormality of the genitourinary system
15.4%
Abnormality of the integument
15.4%
Abnormality of the nervous system
15.4%
Abnormality of the cardiovascular system
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the musculoskeletal system
7.7%
Constitutional symptom
7.7%
Growth abnormality
7.7%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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