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_000295.5(SERPINA1):c.1A>G (p.Met1Val)	SERPINA1	Likely pathogenic	14	94849574	94849574	T	C	criteria provided, single submitter	ClinGen:CA16041711
single nucleotide variant	NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter)	SERPINA1	Likely pathogenic	14	94849554	94849554	C	T	criteria provided, single submitter	ClinGen:CA16041710
single nucleotide variant	NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)	SERPINA1	Likely pathogenic	14	94849389	94849389	G	T	criteria provided, single submitter	ClinGen:CA7327531
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_000295.5(SERPINA1):c.714del (p.Thr239fs)	SERPINA1	Likely pathogenic	14	94847411	94847411	TG	T	criteria provided, single submitter	ClinGen:CA16041709
Deletion	NM_000295.5(SERPINA1):c.1018del (p.Ala340fs)	SERPINA1	Likely pathogenic	14	94845848	94845848	GC	G	criteria provided, single submitter	ClinGen:CA16041708
single nucleotide variant	NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	SERPINA1	Pathogenic/Likely pathogenic	14	94849037	94849037	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348651
Indel	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	SERPINA1	Pathogenic	14	94844928	94844935	GCAGCTTC	TGTTTTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA348973
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
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