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HNRNPCL1

Synonyms
HNRPCL1
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
77
VUS
29,371
Likely benign
34
Benign
0

Patient Phenotypes

Proportions of phenotypes among 84 patients carrying pathogenic or likely pathogenic variants on HNRNPCL1 gene are displayed below. The following symptoms were found in patients with a variant in HNRNPCL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
45.2%
Abnormality of the nervous system
45.2%
Abnormality of the musculoskeletal system
35.7%
Abnormality of head or neck
29.8%
Growth abnormality
17.9%
Abnormality of the ear
14.3%
Abnormality of limbs
13.1%
Abnormality of the cardiovascular system
13.1%
Abnormality of the integument
11.9%
Abnormality of the genitourinary system
8.3%
Abnormality of the digestive system
6%
Abnormality of the immune system
6%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of metabolism homeostasis
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the respiratory system
3.6%
Neoplasm
3.6%
Abnormality of prenatal development or birth
2.4%
Abnormal cellular phenotype
1.2%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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