ClinVar Miner

List of variants reported as likely pathogenic for clubfoot

Included ClinVar conditions (19):

Brachydactyly-elbow wrist dysplasia syndrome; Clubfoot
Cleft soft palate; Clubfoot; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly
Clubfoot
Clubfoot; Abnormal foot morphology; Cerebral cortical atrophy; Impaired vibration sensation in the lower limbs; Difficulty walking; EMG: axonal abnormality; Sensorimotor neuropathy; CNS demyelination; Hypertensive disorder; Gout
Clubfoot; Arthrogryposis multiplex congenita; Severe hydrocephalus
Clubfoot; Cutis laxa; Hyperextensible skin; Soft skin; Bruising susceptibility; Atrophic scars; Joint hypermobility; Bilateral talipes equinovarus; Joint hyperflexibility; Edema of the dorsum of feet
Clubfoot; EMG abnormality; Lower limb amyotrophy
Clubfoot; Encephalocele; Polydactyly, postaxial, type A1; Polycystic kidney disease; Oligohydramnios; Microcephaly; Narrow chest
Clubfoot; Gait disturbance; Impaired vibration sensation in the lower limbs; Shuffling gait; Distal muscle weakness; EMG: neuropathic changes; Progressive distal muscular atrophy; Foot dorsiflexor weakness
Clubfoot; Isolated Pierre-Robin syndrome; Periventricular nodular heterotopia; Hypocalcemia; Neurodevelopmental delay
Clubfoot; Polycystic kidney disease; Narrow chest; Hyperechogenic kidneys
Clubfoot; Polyhydramnios; Large for gestational age; Macrocephaly at birth; External ear malformation; Ventricular septal defect
Clubfoot; Renal cyst; Abnormality of the face; Cystic renal dysplasia; Abnormal finger morphology
Clubfoot; Seizure; Short stature; Atypical behavior; Aggressive behavior; Absent speech; Microcephaly; Lower limb hypertonia; Severe global developmental delay; Hypotonia
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; Hypertelorism; Clubfoot; Tapered finger; Abnormal facial shape; Short nose; Intellectual disability; Short distal phalanx of toe; Neuropathic spinal arthropathy
Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity
Epicanthus; Clubfoot; Psychotic episodes; Intellectual disability, mild; Joint hypermobility; Mild global developmental delay; Abnormal emotion
Macroglossia; Clubfoot; Retrognathia; Hypoglycemia; Anemia; Hepatomegaly; Enlarged kidney; Furrowed tongue; Hypertrophic cardiomyopathy; Persistent patent ductus venosus; Thrombocytopenia; Ventricular septal defect; Intracranial hemorrhage

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)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001384125.1(BLTP1):c.3323+1G>A	rs775292946	0.00001
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)	rs778360818	0.00001
NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	rs1057518871
NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	rs370810713
NM_001366521.1(ATP2B1):c.3060+2T>G	rs2135942244
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	rs730882245
NM_001384125.1(BLTP1):c.692del (p.Phe231fs)	rs1741122462
NM_002653.5(PITX1):c.292del (p.Ser98fs)
NM_002653.5(PITX1):c.414G>T (p.Lys138Asn)	rs1752408604
NM_002653.5(PITX1):c.87del (p.Ala30fs)	rs2149562896
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)	rs1554846212
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	rs780770356

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