Home > Gene Browser > JMY

JMY

Synonyms
WHAMM2, WHDC1L3
External resources
Summary
-

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
17
VUS
11,778
Likely benign
2,757
Benign
0

Patient phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on JMY gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
24.2%
Abnormality of head or neck
21.2%
Abnormality of the cardiovascular system
21.2%
Abnormality of the musculoskeletal system
21.2%
Abnormality of the nervous system
18.2%
Abnormality of limbs
12.1%
Abnormality of the endocrine system
12.1%
Abnormality of the genitourinary system
12.1%
Abnormality of the integument
12.1%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the digestive system
6.1%
Abnormality of the immune system
6.1%
Growth abnormality
6.1%
Abnormality of prenatal development or birth
3%
Abnormality of the ear
3%
Neoplasm
3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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