ClinVar Miner

List of variants reported as likely pathogenic for cleft palate

Included ClinVar conditions (37):

ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin ectodermal dysplasia syndrome; Split hand-foot malformation 4; Orofacial cleft 8
Abruzzo-Erickson syndrome; Cleft palate with or without ankyloglossia, X-linked
Astrocytoma; Cleft palate; Cleft lip
Autism; Bifid uvula; Global developmental delay; Motor delay; Self-injurious behavior; Delayed speech and language development; Abnormality of the dentition; Long neck; Delayed early-childhood social milestone development; Neurodevelopmental delay; Clinodactyly; Long ear
Autism; Cryptorchidism; Hypertelorism; Bifid uvula; Seizure; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate
Autism; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss disorder; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormal sternum morphology; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severely reduced visual acuity; Relative macrocephaly; Bilateral cleft lip; Cleft palate
Cleft palate
Cleft palate with ankyloglossia
Cleft palate with or without ankyloglossia, X-linked
Cleft soft palate; Clubfoot; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly
Cleft soft palate; Isolated Pierre-Robin syndrome; Global developmental delay; Retrognathia; Feeding difficulties; Open mouth; Microretrognathia; Facial asymmetry; Pectus carinatum; Hypoplastic scapulae; Abnormality of the costochondral junction; Neonatal hypotonia; Hypoplasia of deltoid muscle; Abnormal occipital bone morphology
Cleft soft palate; Isolated Pierre-Robin syndrome; Seizure; Micrognathia; Microcephaly; Gynecomastia; Decreased response to growth hormone stimulation test; Intellectual disability; Acute pancreatitis; Inability to walk; Abnormal subcutaneous fat tissue distribution; Gastrostomy tube feeding in infancy; Movement disorder
Cleft upper lip; Cognitive impairment; Median cleft upper lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Abnormal pulmonary interstitial morphology; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus
Cryptorchidism; Developmental cataract; Hypertrichosis; Abnormal corpus callosum morphology; Bilateral microphthalmos; Low-set ears; Spasticity; Absent speech; Rigidity; Thoracolumbar scoliosis; Humeral cortical thickening; Cortical thickening of humeral diaphysis; Cerebral hypomyelination; Congenital ptosis; Infantile axial hypotonia; Intellectual disability, severe; Cleft palate; Movement disorder
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
Dystonic disorder; Growth delay; Hypothyroidism; Intellectual disability; Infantile axial hypotonia; Upper limb hypertonia; Cleft palate
Global developmental delay; Abnormal skeletal morphology; Cleft palate
Global developmental delay; Clinodactyly of the 5th finger; Abnormality of the dentition; Macrocephaly; Dolichocephaly; Cleft palate
Global developmental delay; Intellectual disability; Cleft palate
Global developmental delay; Motor delay; Abnormal facial shape; Delayed speech and language development; Cleft palate
Global developmental delay; Retinopathy; Cleft palate
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
Global developmental delay; Vitreoretinopathy; Cleft palate
Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia; Short nose; Hypoplasia of the maxilla; Cleft palate
Inguinal hernia; High palate; Apneic episodes in infancy; Unilateral ptosis; Cleft palate; Fetal distress
Intellectual disability; Cleft palate; Cleft lip
Isolated cleft palate
Macrocephaly; Cleft palate
Orofacial cleft 3
Orofacial cleft; Cleft palate
Pectus excavatum; Global developmental delay; Failure to thrive; Hearing impairment; Hypoglycemia; Optic nerve hypoplasia; Absent speech; Abnormality of the dentition; Carious teeth; Intellectual disability; Ventriculomegaly; Inability to walk; High myopia; Gastrostomy tube feeding in infancy; Cleft palate
Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus
Rapp-Hodgkin ectodermal dysplasia syndrome
Retinopathy; Cleft palate
Short stature; Conductive hearing impairment; Cleft palate
Tetralogy of Fallot; Microcephaly; Cleft palate

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)	rs142248927	0.00086
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)	rs778360818	0.00001
NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter)	rs369867819
NM_001134673.4(NFIA):c.905del (p.Gly302fs)	rs1057518992
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)	rs753385776
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	rs1553200431
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003722.5(TP63):c.858dup (p.Leu287fs)	rs2108801923
NM_004115.4(FGF14):c.486dup (p.Arg163fs)	rs1566823361
NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)	rs1558027212
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	rs780770356
NM_198173.3(GRHL3):c.22A>G (p.Arg8Gly)	rs2148651821

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