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ARMC9

Synonyms
ARM, JBTS30, KU-MEL-1, NS21
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
31
Likely pathogenic
0
VUS
3,283
Likely benign
2,505
Benign
1,246

Patient Phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on ARMC9 gene are displayed below. The following symptoms were found in patients with a variant in ARMC9. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.2%
Abnormality of head or neck
22.6%
Abnormality of the musculoskeletal system
22.6%
Abnormality of the cardiovascular system
19.4%
Abnormality of the eye
16.1%
Abnormality of the ear
12.9%
Abnormality of the genitourinary system
9.7%
Abnormality of the integument
9.7%
Abnormality of metabolism homeostasis
6.5%
Abnormality of the digestive system
6.5%
Growth abnormality
6.5%
Abnormality of limbs
3.2%
Abnormality of prenatal development or birth
3.2%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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