"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339957	NM_001089.3(ABCA3):c.4868C>T (p.Ala1623Val)	ABCA3 (A1623V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 884386	NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)	ABCA3 (G1205R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1383929	NM_001089.3(ABCA3):c.3313C>T (p.Leu1105Phe)	ABCA3 (L1105F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884833	NM_001089.3(ABCA3):c.2539A>G (p.Met847Val)	ABCA3 (M847V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GUncertain significance
Select item 318546	NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn)	ABCA3 (D446N)	Single nucleotide variant (missense variant)	Respiratory failure +1 more	GUncertain significance
Select item 203381	NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	ABCA3 (E292V)	Single nucleotide variant (missense variant)	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +5 more	GPathogenic/Likely pathogenic

ClinVar