ClinVar Miner

List of variants in gene COL25A1 reported as likely pathogenic for ptosis

Included ClinVar conditions (25):

Blepharophimosis; Ptosis; Hemangioma; Abnormal facial shape
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
Elevated circulating creatine kinase concentration; Muscle weakness; Ptosis; Hypomimic face; Hepatic steatosis; EMG abnormality; EMG: myopathic abnormalities; EMG: myotonic runs; Progressive proximal muscle weakness
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly
Fibrosis of extraocular muscles, congenital, 5
Global developmental delay; Cataract; Ptosis; Cerebellar atrophy; Generalized hypotonia
Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism
Hyperreflexia; Failure to thrive; Respiratory distress; Ptosis; Clonus; Tachypnea; Severe muscular hypotonia
Hyperreflexia; Ptosis; Postaxial hand polydactyly; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure
Hypertelorism; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion
Hypertelorism; Congenital ocular coloboma; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion
Motor delay; Atypical behavior; Aggressive behavior; Ptosis; Pointed chin; Abnormal sternum morphology; Delayed speech and language development; Downslanted palpebral fissures; Triangular face; Wide nasal bridge; High forehead; Bulbous tips of toes; Infantile muscular hypotonia
Motor delay; Short attention span; Ptosis; Anteverted nares; Delayed speech and language development; Microretrognathia; Generalized hypotonia; Neonatal hypotonia; Broad-based gait; Pes valgus; EEG with generalized slow activity; EEG with periodic abnormalities; Concave nasal ridge
Muscle weakness; Ptosis; Dyspnea; Breathing dysregulation
Overgrowth; Macrocephaly; Fatigable weakness; Increased muscle fatiguability; Congenital ptosis
Pectus excavatum; Cardiomyopathy; Ptosis; Clinodactyly of the 5th finger; Proptosis
Pectus excavatum; Failure to thrive; Ptosis; Generalized hypotonia; Intellectual disability, moderate
Pectus excavatum; Global developmental delay; Brachycephaly; Ptosis; Microcephaly
Ptosis
Ptosis, hereditary congenital, 1
Ptosis; Absence of the sacrum; History of neonatal hypotonia
Ptosis; External ophthalmoplegia
Ptosis; Gait disturbance; Dysarthria; Abnormality of eye movement; Increased circulating lactate concentration; Abnormal CSF lactate concentration
Pulmonic stenosis; Short stature; Ptosis; Abnormal sternum morphology

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)	rs1274380766	0.00001
NM_198721.4(COL25A1):c.672+1G>A	rs759316372	0.00001
NM_198721.4(COL25A1):c.672+1del	rs2125927453

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