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MACROD1

Synonyms
LRP16
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
4,068
Likely benign
4,030
Benign
0

Patient phenotypes

Proportions of phenotypes among 31 patients carring pathogenic or likely pathogenic variants on MACROD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.3%
Abnormality of the cardiovascular system
22.6%
Abnormality of the ear
16.1%
Abnormality of the eye
12.9%
Abnormality of the musculoskeletal system
12.9%
Abnormality of the genitourinary system
9.7%
Growth abnormality
9.7%
Abnormality of head or neck
6.5%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of the immune system
3.2%
Abnormality of the respiratory system
3.2%
Abnormal cellular phenotype
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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