Home > Gene Browser > TMEM94

TMEM94

Synonyms
IDDCDF, KIAA0195
External resources
Summary
-

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
17,484
Likely benign
11,063
Benign
1,519

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on TMEM94 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of head or neck
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of limbs
15.4%
Abnormality of the cardiovascular system
15.4%
Growth abnormality
15.4%
Abnormality of the ear
7.7%
Abnormality of the eye
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
Neoplasm
7.7%
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 endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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