Home > Gene Browser > POM121L2

POM121L2

Synonyms
POM121-L, POM121L
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
5,405
Likely benign
10
Benign
0

Patient Phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on POM121L2 gene are displayed below. The following symptoms were found in patients with a variant in POM121L2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
30.8%
Abnormality of the nervous system
30.8%
Abnormality of head or neck
23.1%
Abnormality of the cardiovascular system
23.1%
Abnormality of the eye
15.4%
Abnormality of the digestive system
11.5%
Growth abnormality
11.5%
Abnormality of limbs
7.7%
Abnormality of prenatal development or birth
7.7%
Abnormality of the musculoskeletal system
7.7%
Constitutional symptom
7.7%
Abnormality of blood and blood forming tissues
3.8%
Abnormality of metabolism homeostasis
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the immune system
3.8%
Abnormality of the integument
3.8%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.