"GeneDx"[submitter] AND "SERPINA1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 315020	NM_000295.5(SERPINA1):c.*224G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency +1 more	GBenign
Select item 885679	NM_000295.5(SERPINA1):c.*80C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 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 289135	NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	SERPINA1 (P393S)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
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 288456	NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)	SERPINA1 (A308S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1178821	NM_000295.5(SERPINA1):c.917+316C>T	SERPINA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268368	NM_000295.5(SERPINA1):c.917+265T>C	SERPINA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426859	NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn)	SERPINA1 (D294N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 165185	NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 1695737	NM_000295.5(SERPINA1):c.700G>A (p.Val234Met)	SERPINA1 (V234M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272943	NM_000295.5(SERPINA1):c.647-69T>C	SERPINA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277559	NM_000295.5(SERPINA1):c.647-71T>C	SERPINA1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 288096	NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1235126	NM_000295.5(SERPINA1):c.-4-304A>G	SERPINA1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 24