"Ambry Genetics"[submitter] AND "SERPINA1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595455	NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 17958	NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)	SERPINA1 (E400D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +3 more	GBenign/Likely benign
Select item 17965	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SERPINA1 (P393L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 3160275	NM_000295.5(SERPINA1):c.1157C>G (p.Pro386Arg)	SERPINA1 (P386R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490100	NM_000295.5(SERPINA1):c.1139T>C (p.Ile380Thr)	SERPINA1 (I380T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317534	NM_000295.5(SERPINA1):c.1138A>G (p.Ile380Val)	SERPINA1 (I380V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 799273	NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796389	NM_000295.5(SERPINA1):c.1116T>C (p.Ala372=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 315023	NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1771065	NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)	SERPINA1 (G344R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2449431	NM_000295.5(SERPINA1):c.997A>T (p.Thr333Ser)	SERPINA1 (T333S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180675	NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 315024	NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2527466	NM_000295.5(SERPINA1):c.959C>A (p.Thr320Asn)	SERPINA1 (T320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160277	NM_000295.5(SERPINA1):c.940A>C (p.Lys314Gln)	SERPINA1 (K314Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 289329	NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2564198	NM_000295.5(SERPINA1):c.921T>C (p.Ser307=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3160276	NM_000295.5(SERPINA1):c.918G>A (p.Arg306=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 594462	NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg)	SERPINA1 (L300R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1764590	NM_000295.5(SERPINA1):c.876C>T (p.Thr292=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely 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 702361	NM_000295.5(SERPINA1):c.819C>T (p.Thr273=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 17956	NM_001127701.1(SERPINA1):c.710T= (p.Val237=)	SERPINA1	Single nucleotide variant (no sequence alteration)	Inborn genetic diseases	GBenign
Select item 17955	NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)	SERPINA1 (V237A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2449430	NM_000295.5(SERPINA1):c.566C>T (p.Thr189Ile)	SERPINA1 (T189I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1748482	NM_000295.5(SERPINA1):c.558G>A (p.Glu186=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 290979	NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 499352	NM_000295.5(SERPINA1):c.546C>T (p.Asn182=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1747494	NM_000295.5(SERPINA1):c.542T>C (p.Ile181Thr)	SERPINA1 (I181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1746622	NM_000295.5(SERPINA1):c.528G>A (p.Glu176=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 255788	NM_000295.5(SERPINA1):c.522C>T (p.Thr174=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1742098	NM_000295.5(SERPINA1):c.463T>C (p.Leu155=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 178806	NM_000295.5(SERPINA1):c.424C>T (p.Leu142=)	SERPINA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2277485	NM_000295.5(SERPINA1):c.415G>T (p.Gly139Cys)	SERPINA1 (G139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 17957	NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)	SERPINA1 (R125H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 1732554	NM_000295.5(SERPINA1):c.354A>G (p.Glu118=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2285415	NM_000295.5(SERPINA1):c.241A>G (p.Ile81Val)	SERPINA1 (I81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315031	NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1777464	NM_000295.5(SERPINA1):c.165T>C (p.Ala55=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2205314	NM_000295.5(SERPINA1):c.136A>G (p.Thr46Ala)	SERPINA1 (T46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 756135	NM_000295.5(SERPINA1):c.102G>A (p.Lys34=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 1755506	NM_000295.5(SERPINA1):c.67C>T (p.Leu23=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 501341	NM_000295.5(SERPINA1):c.51C>T (p.Cys17=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 288096	NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 46