Home > Gene Browser > HMCN2

HMCN2

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
242
Likely pathogenic
51
VUS
23,570
Likely benign
340
Benign
0

Patient phenotypes

Proportions of phenotypes among 291 patients carring pathogenic or likely pathogenic variants on HMCN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33%
Abnormality of the eye
30.2%
Abnormality of the musculoskeletal system
25.4%
Abnormality of head or neck
21.6%
Abnormality of the ear
16.8%
Abnormality of the cardiovascular system
13.7%
Growth abnormality
13.7%
Abnormality of the integument
8.9%
Abnormality of the genitourinary system
8.6%
Abnormality of the immune system
7.9%
Abnormality of the digestive system
6.2%
Abnormality of limbs
5.8%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
3.4%
Neoplasm
3.1%
Abnormality of prenatal development or birth
2.7%
Constitutional symptom
1%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.3%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

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