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VPS13C

Synonyms
PARK23
External resources
Summary
This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants.

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
26
Likely pathogenic
0
VUS
13,020
Likely benign
8,933
Benign
257

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on VPS13C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.3%
Abnormality of the cardiovascular system
23.1%
Abnormality of the nervous system
23.1%
Abnormality of head or neck
19.2%
Abnormality of the musculoskeletal system
19.2%
Abnormality of the ear
15.4%
Growth abnormality
11.5%
Abnormality of the genitourinary system
7.7%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of the integument
3.8%
Neoplasm
3.8%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
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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