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ALPK3

Synonyms
CMH27, MAK, MIDORI
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
37
Likely pathogenic
0
VUS
3,391
Likely benign
2,624
Benign
8

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on ALPK3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
51.4%
Abnormality of the musculoskeletal system
16.2%
Abnormality of the nervous system
16.2%
Abnormality of head or neck
13.5%
Abnormality of the eye
13.5%
Abnormality of the immune system
13.5%
Abnormality of blood and blood-forming tissues
10.8%
Abnormality of the digestive system
5.4%
Abnormality of the genitourinary system
5.4%
Abnormality of the integument
5.4%
Abnormality of the respiratory system
5.4%
Abnormal cellular phenotype
2.7%
Abnormality of limbs
2.7%
Abnormality of the ear
2.7%
Constitutional symptom
2.7%
Neoplasm
2.7%
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 thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%

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