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HACL1

Synonyms
2-HPCL, HPCL, HPCL2, PHYH2
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
15
Likely pathogenic
44
VUS
8,579
Likely benign
461
Benign
0

Patient phenotypes

Proportions of phenotypes among 58 patients carring pathogenic or likely pathogenic variants on HACL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the musculoskeletal system
36.2%
Abnormality of head or neck
22.4%
Abnormality of the eye
19%
Abnormality of the cardiovascular system
15.5%
Abnormality of the ear
15.5%
Abnormality of the genitourinary system
15.5%
Growth abnormality
15.5%
Abnormality of the integument
10.3%
Abnormality of limbs
8.6%
Abnormality of prenatal development or birth
5.2%
Abnormality of the immune system
5.2%
Abnormality of blood and blood-forming tissues
1.7%
Abnormality of the breast
1.7%
Abnormality of the digestive system
1.7%
Abnormality of the endocrine system
1.7%
Abnormality of the respiratory system
1.7%
Abnormality of the voice
1.7%
Neoplasm
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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