ClinVar Miner

List of variants reported as likely pathogenic for cleft soft palate by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (3):

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

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)	rs778360818	0.00001
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	rs780770356

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