原発性免疫不全症候群

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
Deletion	NM_000101.4(CYBA):c.415del (p.Arg139fs)	CYBA	Pathogenic	16	88709934	88709934	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000101.4(CYBA):c.288-15C>G	CYBA	Pathogenic	16	88712620	88712620	G	C	criteria provided, single submitter	-
Deletion	NM_000101.4(CYBA):c.246del (p.Phe83fs)	CYBA	Pathogenic/Likely pathogenic	16	88713204	88713204	AG	A	criteria provided, multiple submitters, no conflicts	OMIM:608508.0002
single nucleotide variant	NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter)	CYBA	Pathogenic	16	88713189	88713189	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000101.4(CYBA):c.166del (p.Arg56fs)	CYBA	Pathogenic/Likely pathogenic	16	88713546	88713546	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000101.4(CYBA):c.21del (p.Met8fs)	CYBA	Pathogenic	16	88717401	88717401	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000397.4(CYBB):c.1244C>A (p.Pro415His)	CYBB	Pathogenic	X	37664351	37664351	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA121230,UniProtKB:P04839#VAR_002440,UniProtKB/Swiss-Prot:VAR_002440,OMIM:300481.0001
single nucleotide variant	NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	CYBB	Pathogenic	X	37642818	37642818	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121236,OMIM:300481.0004
single nucleotide variant	NM_000397.4(CYBB):c.302A>G (p.His101Arg)	CYBB	Pathogenic	X	37651277	37651277	A	G	criteria provided, single submitter	UniProtKB/Swiss-Prot:VAR_002432,OMIM:300481.0007,ClinGen:CA121243,UniProtKB:P04839#VAR_002432
single nucleotide variant	NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	CYBB	Pathogenic	X	37658209	37658209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121247,OMIM:300481.0009