α1-アンチトリプシン欠乏症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SERPINA1	Pathogenic/Likely pathogenic	14	94844865	94844865	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA127662,UniProtKB:P01009#VAR_007009,OMIM:107400.0014
single nucleotide variant	NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	SERPINA1	Pathogenic/Likely pathogenic	14	94849381	94849381	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA127686,UniProtKB:P01009#VAR_006982,OMIM:107400.0016
single nucleotide variant	NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	SERPINA1	Pathogenic/Likely pathogenic	14	94849388	94849388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325650,UniProtKB:P01009#VAR_006981,OMIM:107400.0018,ClinVar:219354
Deletion	NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer)	SERPINA1	Pathogenic	14	94849023	94849023	CG	C	criteria provided, single submitter	ClinGen:CA127692,OMIM:107400.0020
single nucleotide variant	NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	SERPINA1	Pathogenic/Likely pathogenic	14	94847404	94847404	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA127693,OMIM:107400.0021
single nucleotide variant	NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)	SERPINA1	Pathogenic	14	94849345	94849345	G	A	criteria provided, single submitter	ClinGen:CA127738,UniProtKB:P01009#VAR_006985,OMIM:107400.0039
Duplication	NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	SERPINA1	Pathogenic/Likely pathogenic	14	94844884	94844885	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA274031,ClinVar:626305
single nucleotide variant	NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)	SERPINA1	Likely pathogenic	14	94847380	94847380	C	G	criteria provided, single submitter	ClinGen:CA274265
single nucleotide variant	NM_000295.5(SERPINA1):c.646+1G>T	SERPINA1	Pathogenic/Likely pathogenic	14	94848928	94848928	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274333,OMIM:107400.0038
single nucleotide variant	NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	SERPINA1	Pathogenic/Likely pathogenic	14	94849023	94849023	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274042