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CNIH4

Synonyms
CNIH-4, CNIH2, HSPC163
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
3
Likely pathogenic
130
VUS
566
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 133 patients carrying pathogenic or likely pathogenic variants on CNIH4 gene are displayed below. The following symptoms were found in patients with a variant in CNIH4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the nervous system
39.8%
Abnormality of the musculoskeletal system
27.8%
Abnormality of head or neck
13.5%
Abnormality of the integument
11.3%
Abnormality of the cardiovascular system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of limbs
7.5%
Abnormality of the ear
6.8%
Abnormality of the immune system
6.8%
Growth abnormality
6%
Abnormality of metabolism homeostasis
4.5%
Abnormality of the digestive system
3%
Abnormality of the endocrine system
3%
Abnormality of blood and blood forming tissues
2.3%
Abnormality of the voice
1.5%
Constitutional symptom
1.5%
Neoplasm
1.5%
Abnormal cellular phenotype
0.8%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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