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YIPF1

Synonyms
DJ167A19.1, FinGER1
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
81
Likely pathogenic
0
VUS
4,175
Likely benign
1,202
Benign
0

Patient Phenotypes

Proportions of phenotypes among 81 patients carrying pathogenic or likely pathogenic variants on YIPF1 gene are displayed below. The following symptoms were found in patients with a variant in YIPF1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.8%
Abnormality of the eye
29.6%
Abnormality of head or neck
19.8%
Abnormality of the integument
17.3%
Abnormality of the musculoskeletal system
13.6%
Abnormality of limbs
9.9%
Abnormality of the ear
9.9%
Abnormality of the endocrine system
8.6%
Growth abnormality
8.6%
Abnormality of the genitourinary system
7.4%
Abnormality of the digestive system
6.2%
Abnormality of the immune system
6.2%
Abnormality of the cardiovascular system
4.9%
Abnormality of blood and blood forming tissues
3.7%
Abnormality of the respiratory system
3.7%
Neoplasm
3.7%
Abnormality of metabolism homeostasis
2.5%
Abnormal cellular phenotype
1.2%
Abnormality of prenatal development or birth
1.2%
Abnormality of the breast
1.2%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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