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MILR1

Synonyms
Allergin-1, C17orf60, MCA-32, MCA32
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
2
Likely pathogenic
100
VUS
290
Likely benign
173
Benign
0

Patient phenotypes

Proportions of phenotypes among 102 patients carrying pathogenic or likely pathogenic variants on MILR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.2%
Abnormality of the musculoskeletal system
28.4%
Abnormality of the integument
17.6%
Abnormality of head or neck
16.7%
Abnormality of limbs
14.7%
Growth abnormality
11.8%
Abnormality of the ear
10.8%
Abnormality of blood and blood-forming tissues
8.8%
Abnormality of the digestive system
6.9%
Abnormality of the eye
5.9%
Abnormality of the cardiovascular system
4.9%
Abnormality of the immune system
3.9%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
2%
Neoplasm
2%
Abnormality of prenatal development or birth
1%
Abnormality of the breast
1%
Abnormality of the genitourinary system
1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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