C1970456[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227154	NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys)	ABCA3 (E1701K)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +3 more	GLikely benign
Select item 318402	NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)	ABCA3 (A1338T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 884386	NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)	ABCA3 (G1205R)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 318429	NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 1320345	NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr)	ABCA3 (A902T)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 1572416	NM_001089.3(ABCA3):c.2148C>T (p.Ile716=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 885896	NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu)	ABCA3 (S693L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +3 more	GUncertain significance
Select item 522711	NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr)	ABCA3 (A631T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	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 596502	NM_001089.3(ABCA3):c.385G>A (p.Val129Met)	ABCA3 (V129M)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +3 more	GUncertain significance