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HIP1R

Synonyms
HIP12, HIP3, ILWEQ
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
21
Likely pathogenic
0
VUS
5,692
Likely benign
1,470
Benign
0

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on HIP1R gene are displayed below. The following symptoms were found in patients with a variant in HIP1R. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of head or neck
42.9%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the eye
23.8%
Growth abnormality
23.8%
Abnormality of the cardiovascular system
14.3%
Abnormality of the integument
14.3%
Abnormality of limbs
9.5%
Abnormality of metabolism homeostasis
9.5%
Abnormality of the ear
9.5%
Abnormality of prenatal development or birth
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the immune system
4.8%
Abnormality of the respiratory system
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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