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.1226T>C (p.Met409Thr)	SERPINA1	Pathogenic	14	94844817	94844817	A	G	criteria provided, single submitter	ClinGen:CA390847337
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
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
Deletion	NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	SERPINA1	Likely pathogenic	14	94844885	94844885	CG	C	criteria provided, single submitter	ClinGen:CA7327257,LOVD 3:SERPINA1_000014,OMIM:107400.0025
Duplication	NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	SERPINA1	Pathogenic	14	94844912	94844913	T	TA	criteria provided, multiple submitters, no conflicts	-
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.1066-1G>T	SERPINA1	Likely pathogenic	14	94844978	94844978	C	A	criteria provided, single submitter	-
Deletion	NM_000295.5(SERPINA1):c.1018del (p.Ala340fs)	SERPINA1	Likely pathogenic	14	94845848	94845848	GC	G	criteria provided, single submitter	ClinGen:CA16041708
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
single nucleotide variant	NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)	SERPINA1	Pathogenic	14	94847292	94847292	A	G	criteria provided, single submitter	-