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LMNTD1

Synonyms
IFLTD1, LMNARS1, PAS1C1
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
16
Likely pathogenic
32
VUS
2,119
Likely benign
328
Benign
0

Patient Phenotypes

Proportions of phenotypes among 48 patients carrying pathogenic or likely pathogenic variants on LMNTD1 gene are displayed below. The following symptoms were found in patients with a variant in LMNTD1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
58.3%
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
12.5%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Abnormality of limbs
6.3%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the digestive system
6.3%
Abnormal cellular phenotype
4.2%
Abnormality of blood and blood forming tissues
4.2%
Abnormality of the cardiovascular system
4.2%
Abnormality of the endocrine system
4.2%
Abnormality of the respiratory system
4.2%
Growth abnormality
4.2%
Abnormality of prenatal development or birth
2.1%
Abnormality of the ear
2.1%
Abnormality of the voice
2.1%
Neoplasm
2.1%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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