ClinVar Miner

List of variants studied for cleft palate by Ludwig Lab, Institute of Human Genetics, University Hospital Bonn

Included ClinVar conditions (33):

ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8
ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8; Premature ovarian failure 21
ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Premature ovarian failure 21
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
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
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
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; Retinal disorder; 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 syndrome
Retinal disorder; 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
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198173.3(GRHL3):c.1285+2del	rs886037770
NM_198173.3(GRHL3):c.738C>T (p.Gly246=)	rs886037767
NM_198173.3(GRHL3):c.840+1G>T	rs886037768
NM_198173.3(GRHL3):c.916dup (p.Arg306fs)	rs886037769

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