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ARMC6

Synonyms
R30923_1
External resources
Summary
The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene.

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
22
Likely pathogenic
8
VUS
1,767
Likely benign
23
Benign
0

Patient Phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on ARMC6 gene are displayed below. The following symptoms were found in patients with a variant in ARMC6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of head or neck
36.7%
Growth abnormality
33.3%
Abnormality of the eye
30%
Abnormality of the musculoskeletal system
30%
Abnormality of the ear
23.3%
Abnormality of the cardiovascular system
20%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of prenatal development or birth
13.3%
Abnormality of the digestive system
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of limbs
10%
Abnormality of metabolism homeostasis
10%
Abnormality of the endocrine system
6.7%
Abnormality of the respiratory system
6.7%
Abnormal cellular phenotype
3.3%
Abnormality of blood and blood forming tissues
3.3%
Neoplasm
3.3%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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