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GRAMD1A

Synonyms
KIAA1533
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
130
Likely pathogenic
0
VUS
5,547
Likely benign
1,719
Benign
0

Patient Phenotypes

Proportions of phenotypes among 130 patients carrying pathogenic or likely pathogenic variants on GRAMD1A gene are displayed below. The following symptoms were found in patients with a variant in GRAMD1A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.8%
Abnormality of the musculoskeletal system
30%
Abnormality of head or neck
22.3%
Abnormality of the cardiovascular system
20%
Abnormality of the eye
17.7%
Abnormality of blood and blood forming tissues
12.3%
Abnormality of the genitourinary system
11.5%
Growth abnormality
11.5%
Abnormality of limbs
10%
Abnormality of the integument
10%
Abnormality of the ear
8.5%
Abnormality of the digestive system
6.9%
Abnormality of the immune system
5.4%
Abnormality of metabolism homeostasis
4.6%
Abnormality of the respiratory system
2.3%
Abnormality of the voice
2.3%
Constitutional symptom
2.3%
Abnormality of the breast
1.5%
Neoplasm
1.5%
Abnormality of prenatal development or birth
0.8%
Abnormality of the endocrine system
0.8%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%

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