C1970456[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8016	NM_001089.3(ABCA3):c.4909+1G>A	ABCA3	Single nucleotide variant (splice donor variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 8014	NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro)	ABCA3 (Q1591P)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 8013	NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro)	ABCA3 (L1553P)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 8011	NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter)	ABCA3 (W1142*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 8015	NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)	ABCA3 (N568D)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 8017	NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro)	ABCA3 (L326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8012	NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro)	ABCA3 (L101P)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic

ClinVar