ClinVar Miner

List of variants reported as likely pathogenic 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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs)	rs864309713
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His)	rs1027079885
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)	rs1565295550
NM_001127392.3(MYRF):c.1904-1G>A	rs2066445430
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)	rs2066476390
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)	rs1382225004
NM_001127392.3(MYRF):c.239dup (p.Gly81fs)	rs2066051319
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	rs2147551760
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	rs1057518944
NM_207361.5(FREM2):c.[4031G>A];[4558C>T]
NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del)	rs775394591

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