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PNLIPRP1

Synonyms
PLRP1
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
26
Likely pathogenic
0
VUS
2,340
Likely benign
32
Benign
0

Patient Phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on PNLIPRP1 gene are displayed below. The following symptoms were found in patients with a variant in PNLIPRP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
34.6%
Abnormality of the nervous system
30.8%
Abnormality of head or neck
26.9%
Abnormality of limbs
19.2%
Abnormality of the eye
19.2%
Abnormality of the cardiovascular system
15.4%
Abnormality of the ear
11.5%
Abnormality of metabolism homeostasis
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
Abnormality of blood and blood forming tissues
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the respiratory system
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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