Home > Gene Browser > LRRC75B

LRRC75B

Synonyms
C22orf36, FAM211B
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
38
Likely pathogenic
0
VUS
1,034
Likely benign
319
Benign
0

Patient Phenotypes

Proportions of phenotypes among 38 patients carrying pathogenic or likely pathogenic variants on LRRC75B gene are displayed below. The following symptoms were found in patients with a variant in LRRC75B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.9%
Abnormality of the musculoskeletal system
42.1%
Abnormality of head or neck
21.1%
Abnormality of the eye
21.1%
Abnormality of the cardiovascular system
18.4%
Growth abnormality
15.8%
Abnormality of the integument
13.2%
Abnormality of the genitourinary system
10.5%
Abnormality of limbs
7.9%
Abnormality of the ear
7.9%
Abnormality of metabolism homeostasis
5.3%
Abnormality of the digestive system
5.3%
Constitutional symptom
5.3%
Abnormality of blood and blood forming tissues
2.6%
Abnormality of the breast
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the immune system
2.6%
Abnormality of the respiratory system
2.6%
Neoplasm
2.6%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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