Home > Gene Browser > TMEM269

TMEM269

Synonyms
-
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
5
Likely pathogenic
8
VUS
814
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on TMEM269 gene are displayed below. The following symptoms were found in patients with a variant in TMEM269. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
46.2%
Abnormality of the eye
30.8%
Abnormality of the nervous system
30.8%
Abnormality of limbs
23.1%
Abnormality of head or neck
15.4%
Abnormality of metabolism homeostasis
15.4%
Abnormality of the integument
15.4%
Growth abnormality
15.4%
Abnormal cellular phenotype
7.7%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the immune system
7.7%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory 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.