ClinVar Miner

List of variants reported as association for tracheal disorder by HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas

Included ClinVar conditions (27):

Abnormal facial shape; Pleural effusion; Interphalangeal joint contracture of finger; Emphysema; Increased number of skin folds
Alpha-1-antitrypsin deficiency; COPD, severe early onset
Atrial septal defect; Autistic behavior; Tracheomalacia; Gastroesophageal reflux
Bronchiectasis
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1, modifier of
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB1, autosomal recessive
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 3
COPD, severe early onset
Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency
Chronic obstructive pulmonary disease; Immunodeficiency; Chronic diarrhea; Decreased circulating antibody concentration
Dynein arm defect of respiratory motile cilia; Absent inner and outer dynein arms; Abnormal ciliary motility; Bronchiectasis
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Polydactyly of a biphalangeal thumb; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger cutaneous syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border
Failure to thrive; Cognitive impairment; Hypothyroidism; Chronic diarrhea; Combined immunodeficiency; Bronchiectasis
Heme oxygenase 1 deficiency; COPD, severe early onset
Idiopathic bronchiectasis
Male infertility; Recurrent otitis media; Recurrent sinusitis; Situs inversus; Bronchiectasis
Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis
Polycystic kidney disease; Intellectual disability; Emphysema; Reduced renal corticomedullary differentiation; Neurodevelopmental delay; Postaxial polydactyly
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2
Recessive dystrophic epidermolysis bullosa; COPD, severe early onset
Seizure; Hypospadias; Tracheomalacia; Abnormal facial shape; Delayed speech and language development; Intellectual disability, moderate; Periventricular leukomalacia; Hypotonia; Encephalomalacia
Tracheoesophageal fistula

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_014883.4(FAM13A):c.843+16335C>A	rs2609255	0.73777
NM_014883.4(FAM13A):c.605+25827G>A	rs1903003	0.57350
NM_014883.4(FAM13A):c.606-24587G>A	rs7671167	0.52969
NC_000006.12:g.31815431A>C	rs1008438	0.49671
NC_000006.12:g.31826815C>T	rs2763979	0.45422
NC_000004.12:g.144559628A>G	rs1828591	0.42885
NC_000011.10:g.34788896T>C	rs10836312	0.40543
NC_000011.10:g.34758731G>A	rs906902	0.38807
NC_000004.12:g.144565237A>G	rs13118928	0.32285
NM_003357.5(SCGB1A1):c.-26G>A	rs3741240	0.31443
NC_000004.12:g.144539078A>G	rs13147758	0.31076
NM_005345.6(HSPA1A):c.330G>C (p.Glu110Asp)	rs562047	0.15021
NC_000004.12:g.88448181T>C	rs942316220
NM_005345.6(HSPA1A):c.-27G>C	rs1043618
NM_005345.6(HSPA1A):c.1053G>A (p.Gln351=)	rs1061581
NM_005346.6(HSPA1B):c.-178C>T	rs6457452
NM_005527.4(HSPA1L):c.1478C>A (p.Thr493Lys)	rs2227956

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