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HNRNPA1L2

Synonyms
-
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
8
Likely pathogenic
238
VUS
773
Likely benign
4
Benign
0

Patient phenotypes

Proportions of phenotypes among 244 patients carring pathogenic or likely pathogenic variants on HNRNPA1L2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
48.8%
Abnormality of the nervous system
37.3%
Abnormality of the musculoskeletal system
29.5%
Abnormality of head or neck
25.4%
Abnormality of the ear
12.7%
Abnormality of the integument
11.5%
Abnormality of limbs
10.7%
Growth abnormality
10.7%
Abnormality of the cardiovascular system
10.2%
Abnormality of the digestive system
4.5%
Abnormality of blood and blood-forming tissues
4.1%
Abnormality of the endocrine system
3.3%
Abnormality of the genitourinary system
2.9%
Abnormality of prenatal development or birth
2.5%
Abnormality of the immune system
2%
Neoplasm
2%
Abnormality of the respiratory system
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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