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.833T>C (p.Leu278Pro)	SERPINA1	Pathogenic	14	94847292	94847292	A	G	criteria provided, single submitter	-
Duplication	NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	SERPINA1	Pathogenic	14	94844912	94844913	T	TA	criteria provided, multiple submitters, no conflicts	-
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.1226T>C (p.Met409Thr)	SERPINA1	Pathogenic	14	94844817	94844817	A	G	criteria provided, single submitter	ClinGen:CA390847337
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_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
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_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)	SERPINA1	Likely pathogenic	14	94847471	94847471	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000295.5(SERPINA1):c.1066-1G>T	SERPINA1	Likely pathogenic	14	94844978	94844978	C	A	criteria provided, single submitter	-