ClinVar Miner

List of variants in gene ZFPM2 studied for diaphragm disorder

Included ClinVar conditions (16):

Abnormal cardiovascular system morphology; Congenital diaphragmatic hernia
Atrial septal defect; Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate
Diaphragmatic eventration
Diaphragmatic hernia 3
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9
Diaphragmatic hernia 4, with cardiovascular defects
Ebstein anomaly; Heart, malformation of; Abnormal facial shape; Congenital diaphragmatic hernia; Ventriculomegaly; Stillbirth; Common atrium
Global developmental delay; Seizure; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate
Heart, malformation of; Abnormality of the genitourinary system; Congenital diaphragmatic hernia
Hernia, anterior diaphragmatic
Hypertelorism; Megalencephaly, autosomal dominant; Diaphragmatic eventration; Abnormality of the hairline; Intestinal duplication
Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczema; Hip dislocation; Abnormal facial shape; Anteverted nares; Downslanted palpebral fissures; Protruding ear; Specific learning disability; Sparse and thin eyebrow; Congenital diaphragmatic hernia; Talipes; Tachypnea; Abnormality of mouth shape; Hypotonia
Scoliosis; Pulmonary hypoplasia; Labial hypoplasia; Congenital diaphragmatic hernia; Bicornuate uterus; Cutis laxa; Small thenar eminence; Olfactory lobe agenesis; Abnormality of the abdominal wall; Thoracic hypoplasia; Clinodactyly; Camptodactyly

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_012082.4(ZFPM2):c.40+12C>G	rs149902904	0.00711
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	rs121908601	0.00293
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	rs121908603	0.00019
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	rs121908602	0.00001
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	rs536096943
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	rs569356297
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)	rs1814012663
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn)	rs763181942
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)	rs1813907455

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