Home > Gene Browser > SRPK2

SRPK2

Synonyms
SFRSK2
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
4
Likely pathogenic
149
VUS
8,039
Likely benign
4,134
Benign
0

Patient Phenotypes

Proportions of phenotypes among 152 patients carrying pathogenic or likely pathogenic variants on SRPK2 gene are displayed below. The following symptoms were found in patients with a variant in SRPK2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
27%
Abnormality of blood and blood forming tissues
15.1%
Abnormality of the musculoskeletal system
15.1%
Abnormality of head or neck
13.2%
Abnormality of the eye
11.2%
Growth abnormality
11.2%
Abnormality of the ear
9.9%
Abnormality of metabolism homeostasis
7.9%
Abnormality of the cardiovascular system
7.2%
Abnormality of the immune system
5.3%
Abnormality of limbs
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the genitourinary system
3.3%
Abnormality of the integument
3.3%
Abnormal cellular phenotype
0.7%
Abnormality of prenatal development or birth
0.7%
Abnormality of the respiratory system
0.7%
Constitutional symptom
0.7%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.