ClinVar Miner

List of variants reported as pathogenic for clubfoot by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_018122.5(DARS2):c.492+2T>C	rs142433332	0.00034
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_001378615.1(CC2D2A):c.1149+1G>A	rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
NM_018122.5(DARS2):c.228-21_228-20delinsC	rs1553201258
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	rs387906905

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