"CSER _CC_NCGL, University of Washington"[submitter] AND "SERPINA1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17967	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1 (E366K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic; risk factor
Select item 17962	NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)	SERPINA1 (D365N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GBenign/Likely benign
Select item 17969	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SERPINA1 (E288V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +3 more	GPathogenic/Pathogenic, low penetrance; other
Select item 17975	NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	SERPINA1 (D280V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic; other
Select item 17961	NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	SERPINA1 (R247C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 17974	NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	SERPINA1 (R63C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17970	NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)	SERPINA1 (S6L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar