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SLC28A2

Synonyms
CNT2, HCNT2, HsT17153, SPNT1
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
8
Likely pathogenic
74
VUS
3,130
Likely benign
146
Benign
0

Patient phenotypes

Proportions of phenotypes among 82 patients carring pathogenic or likely pathogenic variants on SLC28A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.2%
Abnormality of head or neck
26.8%
Abnormality of the cardiovascular system
25.6%
Abnormality of the musculoskeletal system
24.4%
Growth abnormality
19.5%
Abnormality of the ear
17.1%
Abnormality of the eye
15.9%
Abnormality of limbs
12.2%
Abnormality of the genitourinary system
9.8%
Abnormality of blood and blood-forming tissues
7.3%
Abnormality of prenatal development or birth
7.3%
Abnormality of the digestive system
7.3%
Abnormality of the integument
7.3%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
2.4%
Neoplasm
2.4%
Abnormality of the immune system
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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