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
Indel	NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)	SERPINA1	Pathogenic	14	94848989	94848990	AA	T	criteria provided, single submitter	-
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.646+2T>C	SERPINA1	Likely pathogenic	14	94848927	94848927	A	G	criteria provided, single submitter	ClinGen:CA7327455
Deletion	NM_001127701.1(SERPINA1):c.647-1delG	SERPINA1	Pathogenic	14	94847478	94847478	GC	G	criteria provided, single submitter	ClinGen:CA645509533
single nucleotide variant	NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)	SERPINA1	Likely pathogenic	14	94847471	94847471	C	T	criteria provided, single submitter	-
Deletion	NM_000295.5(SERPINA1):c.714del (p.Thr239fs)	SERPINA1	Likely pathogenic	14	94847411	94847411	TG	T	criteria provided, single submitter	ClinGen:CA16041709
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_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.833T>C (p.Leu278Pro)	SERPINA1	Pathogenic	14	94847292	94847292	A	G	criteria provided, single submitter	-
Duplication	NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	SERPINA1	Pathogenic/Likely pathogenic	14	94847258	94847259	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509532