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XKR9

Synonyms
XRG9
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
464
VUS
1,191
Likely benign
87
Benign
0

Patient Phenotypes

Proportions of phenotypes among 491 patients carrying pathogenic or likely pathogenic variants on XKR9 gene are displayed below. The following symptoms were found in patients with a variant in XKR9. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.5%
Abnormality of the musculoskeletal system
44.2%
Abnormality of head or neck
38.9%
Abnormality of the eye
24.6%
Abnormality of the integument
20.8%
Growth abnormality
20.8%
Abnormality of limbs
20.4%
Abnormality of the cardiovascular system
20.2%
Abnormality of the ear
19.1%
Abnormality of the genitourinary system
13.4%
Abnormality of the digestive system
11.6%
Abnormality of metabolism homeostasis
10.6%
Abnormality of the respiratory system
7.1%
Abnormality of the immune system
6.9%
Abnormality of blood and blood forming tissues
4.9%
Abnormality of prenatal development or birth
4.9%
Abnormality of the endocrine system
4.5%
Abnormality of the breast
2%
Neoplasm
1.6%
Abnormality of the voice
1%
Constitutional symptom
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of the thoracic cavity
0.2%

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