ClinVar Miner

List of variants in gene MAP4K4 studied for anus disorder

Included ClinVar conditions (8):

Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability
Imperforate anus
Imperforate anus; Abnormality of the vertebral column; Ventricular septal defect
Imperforate anus; Atrial septal defect; Psoriasiform dermatitis; 2-3 toe syndactyly; Abnormal facial shape; Delayed speech and language development; Single umbilical artery; Arthritis; Intellectual disability, moderate; Delayed skeletal maturation; Vertebral fusion; Coronary artery atherosclerosis; Peripheral pulmonary artery stenosis; Absent/hypoplastic coccyx; Ventricular septal defect
Imperforate anus; Global developmental delay; Absent speech; Microcephaly; Teratoma
Imperforate anus; Patent foramen ovale; Abnormality of the vertebral column; Penile hypospadias; Urethral stricture
Imperforate anus; Renal dysplasia
Imperforate anus; Short stature; Ectopic posterior pituitary; Central hypothyroidism; Hypopituitarism; Abnormal growth hormone level

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001395002.1(MAP4K4):c.3458_3459del (p.Val1153fs)

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