"Revvity Omics, Revvity"[submitter] AND "ABCA3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438840	NM_001089.3(ABCA3):c.3997del (p.Arg1333fs)	ABCA3 (R1333fs)	Deletion (frameshift variant)	Interstitial lung disease due to ABCA3 deficiency	GLikely pathogenic
Select item 1735104	NM_001089.3(ABCA3):c.3805G>C (p.Glu1269Gln)	ABCA3 (E1269Q)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 973875	NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)	ABCA3 (F1203del)	Microsatellite (inframe_deletion)	Interstitial lung disease due to ABCA3 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1409802	NM_001089.3(ABCA3):c.3505G>A (p.Val1169Met)	ABCA3 (V1169M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2438727	NM_001089.3(ABCA3):c.2513+311del	ABCA3	Deletion (intron variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438726	NM_001089.3(ABCA3):c.2258A>C (p.Lys753Thr)	ABCA3 (K753T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 1412955	NM_001089.3(ABCA3):c.2032G>A (p.Ala678Thr)	ABCA3 (A678T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2438722	NM_001089.3(ABCA3):c.1912C>T (p.Arg638Cys)	ABCA3 (R638C)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438724	NM_001089.3(ABCA3):c.1467+1740T>C	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 1322151	NM_001089.3(ABCA3):c.1286-2A>G	ABCA3	Single nucleotide variant (splice acceptor variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 203381	NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	ABCA3 (E292V)	Single nucleotide variant (missense variant)	Diffuse interstitial pulmonary fibrosis +8 more	GConflicting classifications of pathogenicity
Select item 2438723	NM_001089.3(ABCA3):c.419A>G (p.Asn140Ser)	ABCA3 (N140S)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 162676	NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)	ABCA3 (D123N)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 2438725	NM_001089.3(ABCA3):c.-539+1575G>A	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance