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NKX3-2

Synonyms
BAPX1, NKX3.2, NKX3B, SMMD
External resources
Summary
This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development.

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
5
Likely pathogenic
0
VUS
855
Likely benign
140
Benign
3

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on NKX3-2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
75%
Abnormality of the nervous system
75%
Abnormality of the musculoskeletal system
50%
Abnormality of limbs
25%
Growth abnormality
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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