C0221757[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678660	NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)	SERPINA1 (F394fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 17965	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SERPINA1 (P393L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +3 more	GPathogenic/Likely pathogenic
Select item 289135	NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	SERPINA1 (P393S)	Single nucleotide variant (missense variant)	SERPINA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 188845	NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	SERPINA1 (E387fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 552891	NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	SERPINA1 (L377fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219353	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	SERPINA1 (E370fs)	Indel (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 17967	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1 (E366K)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease +7 more	GPathogenic; risk factor
Select item 632222	NM_000295.5(SERPINA1):c.875C>T (p.Thr292Ile)	SERPINA1 (T292I)	Single nucleotide variant (missense variant)	SERPINA1-related condition +1 more	GUncertain significance
Select item 440499	NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	SERPINA1 (N289fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 17969	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SERPINA1 (E288V)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Pathogenic, low penetrance; other
Select item 2060342	NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)	SERPINA1 (K283*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 17975	NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	SERPINA1 (D280V)	Single nucleotide variant (missense variant)	SERPINA1-related condition +2 more	GPathogenic/Likely pathogenic; other
Select item 189018	NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)	SERPINA1 (G249R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 17977	NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	SERPINA1 (K241*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 315025	NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)	SERPINA1 (V234E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 440496	NM_000295.5(SERPINA1):c.647del	SERPINA1	Deletion	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 2678655	NM_000295.5(SERPINA1):c.647-2A>C	SERPINA1	Single nucleotide variant (splice acceptor variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 371244	NM_000295.5(SERPINA1):c.646+2T>C	SERPINA1	Single nucleotide variant (splice donor variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 189064	NM_000295.5(SERPINA1):c.646+1G>T	SERPINA1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632223	NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)	SERPINA1 (T204fs)	Microsatellite (frameshift variant)	Alpha-1-antitrypsin deficiency	GConflicting classifications of pathogenicity
Select item 2678661	NM_000295.5(SERPINA1):c.557del (p.Glu186fs)	SERPINA1 (E186fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 188854	NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	SERPINA1 (Y184*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 219364	NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	SERPINA1 (Q180*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 2678658	NM_000295.5(SERPINA1):c.480del (p.Lys160fs)	SERPINA1 (K160fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 2678662	NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)	SERPINA1 (K159*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 2678656	NM_000295.5(SERPINA1):c.351_352del (p.His117fs)	SERPINA1 (H117fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 315028	NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)	SERPINA1 (F76del)	Microsatellite (inframe_deletion)	SERPINA1-related condition +2 more	GPathogenic
Select item 2678659	NM_000295.5(SERPINA1):c.216del (p.Asn73fs)	SERPINA1 (N73fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 17971	NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	SERPINA1 (L65P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2678657	NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)	SERPINA1 (P52L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2137619	NM_000295.5(SERPINA1):c.-5+1G>A	SERPINA1	Single nucleotide variant (intron variant +1 more)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic

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Items: 31