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_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
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.230C>T (p.Ser77Phe)	SERPINA1	Pathogenic	14	94849345	94849345	G	A	criteria provided, single submitter	ClinGen:CA127738,UniProtKB:P01009#VAR_006985,OMIM:107400.0039
single nucleotide variant	NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)	SERPINA1	Pathogenic	14	94849331	94849331	C	G	criteria provided, single submitter	-
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
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
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