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PARVG

Synonyms
-
External resources
Summary
Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.

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
4
VUS
3,205
Likely benign
191
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on PARVG gene are displayed below. The following symptoms were found in patients with a variant in PARVG. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
57.1%
Abnormality of the nervous system
57.1%
Abnormality of head or neck
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of limbs
28.6%
Abnormality of the endocrine system
28.6%
Abnormality of blood and blood forming tissues
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
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%
Neoplasm
0%

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