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
single nucleotide variant	NM_000397.4(CYBB):c.301C>T (p.His101Tyr)	CYBB	Likely pathogenic	X	37651276	37651276	C	T	criteria provided, single submitter	UniProtKB/Swiss-Prot:VAR_007876,OMIM:300481.0012,ClinGen:CA121252,UniProtKB:P04839#VAR_007876
single nucleotide variant	NM_000397.4(CYBB):c.252G>A (p.Ala84=)	CYBB	Pathogenic	X	37642853	37642853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA121254,OMIM:300481.0013,OMIM:300481.0015
Duplication	NM_000397.4(CYBB):c.1140dup (p.Lys381fs)	CYBB	Likely pathogenic	X	37663370	37663371	T	TG	criteria provided, single submitter	ClinGen:CA213625
Deletion	NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)	CYBB	Likely pathogenic	X	37639345	37639345	CT	C	criteria provided, single submitter	ClinGen:CA213627
single nucleotide variant	NM_000397.4(CYBB):c.389G>C (p.Arg130Pro)	CYBB	Pathogenic	X	37652969	37652969	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA213631
single nucleotide variant	NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)	CYBB	Pathogenic/Likely pathogenic	X	37655327	37655327	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA213635
single nucleotide variant	NM_000397.4(CYBB):c.1012C>T (p.His338Tyr)	CYBB	Pathogenic	X	37663244	37663244	C	T	criteria provided, single submitter	ClinGen:CA219664,UniProtKB:P04839#VAR_025618,UniProtKB/Swiss-Prot:VAR_025618
single nucleotide variant	NM_000397.4(CYBB):c.1016C>A (p.Pro339His)	CYBB	Pathogenic	X	37663248	37663248	C	A	criteria provided, single submitter	ClinGen:CA219666,UniProtKB:P04839#VAR_002438,UniProtKB/Swiss-Prot:VAR_002438
single nucleotide variant	NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg)	CYBB	Pathogenic	X	37664329	37664329	G	A	criteria provided, single submitter	ClinGen:CA219683,UniProtKB:P04839#VAR_007892,UniProtKB/Swiss-Prot:VAR_007892
single nucleotide variant	NM_000397.4(CYBB):c.1223G>A (p.Gly408Glu)	CYBB	Pathogenic	X	37664330	37664330	G	A	criteria provided, single submitter	UniProtKB:P04839#VAR_007891,UniProtKB/Swiss-Prot:VAR_007891,ClinGen:CA219685