Home > Gene Browser > YIPF7

YIPF7

Synonyms
FinGER9
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
37
Likely pathogenic
3
VUS
1,285
Likely benign
184
Benign
0

Patient Phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on YIPF7 gene are displayed below. The following symptoms were found in patients with a variant in YIPF7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
65%
Abnormality of the musculoskeletal system
30%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
15%
Abnormality of the ear
12.5%
Growth abnormality
10%
Abnormality of the digestive system
7.5%
Abnormality of the eye
7.5%
Abnormality of the immune system
7.5%
Abnormality of blood and blood forming tissues
5%
Abnormality of limbs
5%
Abnormality of metabolism homeostasis
5%
Abnormality of prenatal development or birth
5%
Abnormality of the genitourinary system
5%
Abnormality of the integument
2.5%
Abnormality of the respiratory system
2.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
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.