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TMEM44

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
45
Likely pathogenic
8
VUS
2,948
Likely benign
521
Benign
0

Patient Phenotypes

Proportions of phenotypes among 49 patients carrying pathogenic or likely pathogenic variants on TMEM44 gene are displayed below. The following symptoms were found in patients with a variant in TMEM44. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.9%
Abnormality of the eye
40.8%
Abnormality of the musculoskeletal system
36.7%
Abnormality of head or neck
20.4%
Abnormality of the ear
16.3%
Growth abnormality
14.3%
Abnormality of limbs
10.2%
Abnormality of the cardiovascular system
8.2%
Abnormality of the digestive system
8.2%
Abnormality of the genitourinary system
6.1%
Abnormality of blood and blood forming tissues
4.1%
Abnormality of the integument
4.1%
Abnormality of the breast
2%
Abnormality of the immune system
2%
Neoplasm
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
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%

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