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NSUN6

Synonyms
4933414E04Rik, ARL5B-AS1, NOPD1
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
49
Likely pathogenic
0
VUS
5,416
Likely benign
1,498
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on NSUN6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.8%
Abnormality of the musculoskeletal system
30.6%
Abnormality of the eye
18.4%
Abnormality of the cardiovascular system
16.3%
Abnormality of the genitourinary system
16.3%
Abnormality of head or neck
14.3%
Abnormality of the ear
14.3%
Abnormality of the digestive system
10.2%
Growth abnormality
10.2%
Abnormality of limbs
6.1%
Abnormality of the immune system
6.1%
Abnormality of the integument
6.1%
Neoplasm
6.1%
Abnormality of blood and blood-forming tissues
4.1%
Abnormality of prenatal development or birth
2%
Abnormality of the breast
2%
Abnormality of the endocrine system
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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