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ABHD14B

Synonyms
CIB, HEL-S-299
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
7
Likely pathogenic
35
VUS
3,367
Likely benign
237
Benign
0

Patient Phenotypes

Proportions of phenotypes among 41 patients carrying pathogenic or likely pathogenic variants on ABHD14B gene are displayed below. The following symptoms were found in patients with a variant in ABHD14B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
46.3%
Abnormality of the nervous system
36.6%
Abnormality of head or neck
31.7%
Abnormality of the cardiovascular system
19.5%
Abnormality of the eye
17.1%
Growth abnormality
17.1%
Abnormality of the integument
14.6%
Abnormality of limbs
12.2%
Abnormality of the ear
12.2%
Abnormality of the immune system
9.8%
Abnormality of blood and blood forming tissues
7.3%
Abnormality of the genitourinary system
7.3%
Abnormality of metabolism homeostasis
4.9%
Abnormality of the digestive system
4.9%
Abnormality of the respiratory system
4.9%
Abnormality of the breast
2.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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