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FCAMR

Synonyms
CD351, FCA/MR, FKSG87
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
17
Likely pathogenic
81
VUS
7,026
Likely benign
0
Benign
0

Patient Phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.8%
Abnormality of head or neck
27.6%
Abnormality of the musculoskeletal system
26.5%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
20.4%
Abnormality of the ear
18.4%
Abnormality of the genitourinary system
12.2%
Growth abnormality
12.2%
Abnormality of limbs
10.2%
Abnormality of the integument
10.2%
Abnormality of metabolism homeostasis
9.2%
Abnormality of the digestive system
7.1%
Abnormality of blood and blood forming tissues
6.1%
Abnormality of the immune system
5.1%
Abnormality of the endocrine system
4.1%
Abnormality of prenatal development or birth
3.1%
Abnormality of the respiratory system
3.1%
Neoplasm
3.1%
Constitutional symptom
2%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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