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FASTKD1

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
19
Likely pathogenic
66
VUS
11,401
Likely benign
966
Benign
0

Patient Phenotypes

Proportions of phenotypes among 85 patients carrying pathogenic or likely pathogenic variants on FASTKD1 gene are displayed below. The following symptoms were found in patients with a variant in FASTKD1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
49.4%
Abnormality of the nervous system
31.8%
Abnormality of the musculoskeletal system
24.7%
Abnormality of head or neck
12.9%
Abnormality of limbs
12.9%
Abnormality of the integument
10.6%
Growth abnormality
10.6%
Abnormality of the cardiovascular system
8.2%
Abnormality of the ear
8.2%
Abnormality of the immune system
8.2%
Abnormality of the digestive system
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of metabolism homeostasis
4.7%
Abnormality of the endocrine system
3.5%
Constitutional symptom
2.4%
Abnormal cellular phenotype
1.2%
Abnormality of blood and blood forming tissues
1.2%
Abnormality of prenatal development or birth
1.2%
Abnormality of the voice
1.2%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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