ClinVar Miner

List of variants studied for pulmonary alveolar proteinosis by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (11):

Hereditary pulmonary alveolar proteinosis
Infantile liver failure syndrome 2
Interstitial lung disease due to ABCA3 deficiency
Myopathy; Respiratory distress; Proximal muscle weakness; Pulmonary alveolar proteinosis; Generalized hypotonia; Neonatal hypotonia; Restrictive ventilatory defect; Neonatal respiratory distress; Respiratory insufficiency due to muscle weakness; Skeletal myopathy; Abnormal pulmonary interstitial morphology; Congenital peripheral neuropathy; Proximal muscle weakness in upper limbs; Infantile axial hypotonia
Pulmonary alveolar proteinosis
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U
Surfactant metabolism dysfunction, pulmonary, 1
Surfactant metabolism dysfunction, pulmonary, 2
Surfactant metabolism dysfunction, pulmonary, 4
Surfactant metabolism dysfunction, pulmonary, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.2423+404G>C	rs1019313682	0.00004
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)	rs1085307944	0.00001

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.