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XKR5

Synonyms
HARL2754, UNQ2754, XRG5A, XRG5BM
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
28
Likely pathogenic
0
VUS
2,972
Likely benign
2,472
Benign
0

Patient Phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on XKR5 gene are displayed below. The following symptoms were found in patients with a variant in XKR5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
29.6%
Abnormality of head or neck
25.9%
Abnormality of the eye
25.9%
Abnormality of the genitourinary system
18.5%
Abnormality of metabolism homeostasis
14.8%
Abnormality of the digestive system
14.8%
Growth abnormality
14.8%
Abnormality of the cardiovascular system
11.1%
Abnormality of the ear
11.1%
Abnormality of the immune system
11.1%
Abnormality of blood and blood forming tissues
7.4%
Abnormality of limbs
7.4%
Abnormal cellular phenotype
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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%

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