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KLHDC7B

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
137
Likely pathogenic
0
VUS
4,804
Likely benign
225
Benign
0

Patient Phenotypes

Proportions of phenotypes among 76 patients carrying pathogenic or likely pathogenic variants on KLHDC7B gene are displayed below. The following symptoms were found in patients with a variant in KLHDC7B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
38.2%
Abnormality of the ear
23.7%
Abnormality of the nervous system
23.7%
Abnormality of the musculoskeletal system
17.1%
Abnormality of the eye
14.5%
Abnormality of head or neck
9.2%
Abnormality of metabolism homeostasis
9.2%
Abnormality of the genitourinary system
7.9%
Abnormality of the digestive system
6.6%
Abnormality of limbs
5.3%
Abnormality of the integument
5.3%
Growth abnormality
5.3%
Abnormality of the immune system
2.6%
Abnormality of the respiratory system
2.6%
Abnormality of blood and blood forming tissues
1.3%
Abnormality of the endocrine system
1.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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