Home > Gene Browser > RILPL1

RILPL1

Synonyms
GOSPEL, RLP1
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
21
Likely pathogenic
0
VUS
3,782
Likely benign
477
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on RILPL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
23.8%
Abnormality of the nervous system
23.8%
Abnormality of the cardiovascular system
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
9.5%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of head or neck
4.8%
Abnormality of limbs
4.8%
Abnormality of the eye
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the immune system
4.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
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