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GALNTL5

Synonyms
GALNACT19, GALNT15, GalNAc-T5L
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
45
Likely pathogenic
1
VUS
5,002
Likely benign
866
Benign
0

Patient phenotypes

Proportions of phenotypes among 46 patients carring pathogenic or likely pathogenic variants on GALNTL5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.8%
Abnormality of the musculoskeletal system
26.1%
Abnormality of head or neck
21.7%
Abnormality of the ear
21.7%
Abnormality of the cardiovascular system
15.2%
Abnormality of the eye
13%
Growth abnormality
13%
Abnormality of limbs
8.7%
Abnormality of the genitourinary system
8.7%
Abnormality of the immune system
8.7%
Abnormality of the integument
8.7%
Abnormality of the digestive system
4.3%
Abnormal cellular phenotype
2.2%
Abnormality of blood and blood-forming tissues
2.2%
Abnormality of prenatal development or birth
2.2%
Abnormality of the endocrine system
2.2%
Abnormality of the respiratory system
2.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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