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ROPN1B

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
21
Likely pathogenic
77
VUS
6,555
Likely benign
632
Benign
0

Patient Phenotypes

Proportions of phenotypes among 98 patients carrying pathogenic or likely pathogenic variants on ROPN1B gene are displayed below. The following symptoms were found in patients with a variant in ROPN1B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the eye
22.4%
Abnormality of the musculoskeletal system
20.4%
Growth abnormality
18.4%
Abnormality of head or neck
17.3%
Abnormality of the cardiovascular system
17.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of blood and blood forming tissues
8.2%
Abnormality of limbs
7.1%
Abnormality of the integument
7.1%
Abnormality of the immune system
6.1%
Abnormality of the digestive system
5.1%
Abnormality of the respiratory system
5.1%
Abnormality of the endocrine system
4.1%
Abnormality of prenatal development or birth
2%
Neoplasm
2%
Abnormality of the breast
1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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