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LMNTD2

Synonyms
C11orf35
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
44
Likely pathogenic
0
VUS
5,750
Likely benign
1,150
Benign
0

Patient Phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on LMNTD2 gene are displayed below. The following symptoms were found in patients with a variant in LMNTD2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.5%
Abnormality of the musculoskeletal system
37.2%
Abnormality of head or neck
30.2%
Abnormality of the eye
23.3%
Growth abnormality
23.3%
Abnormality of the cardiovascular system
14%
Abnormality of the ear
14%
Abnormality of limbs
11.6%
Abnormality of metabolism homeostasis
9.3%
Abnormality of the genitourinary system
9.3%
Abnormality of the integument
9.3%
Abnormality of the digestive system
7%
Abnormality of the respiratory system
7%
Abnormality of the endocrine system
4.7%
Abnormality of the immune system
4.7%
Abnormality of blood and blood forming tissues
2.3%
Abnormality of prenatal development or birth
2.3%
Constitutional symptom
2.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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