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.1244C>T (p.Pro415Leu)	CYBB	Pathogenic	X	37664351	37664351	C	T	criteria provided, single submitter	ClinGen:CA219687,UniProtKB:P04839#VAR_007893,UniProtKB/Swiss-Prot:VAR_007893
single nucleotide variant	NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)	CYBB	Pathogenic	X	37670066	37670066	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219704,UniProtKB:P04839#VAR_007898,UniProtKB/Swiss-Prot:VAR_007898
single nucleotide variant	NM_000397.4(CYBB):c.170C>A (p.Ala57Glu)	CYBB	Pathogenic	X	37642771	37642771	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219714,UniProtKB:P04839#VAR_008845,UniProtKB/Swiss-Prot:VAR_008845
single nucleotide variant	NM_000397.4(CYBB):c.626A>G (p.His209Arg)	CYBB	Likely pathogenic	X	37655346	37655346	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA219730,UniProtKB:P04839#VAR_025616,UniProtKB/Swiss-Prot:VAR_025616
single nucleotide variant	NM_000397.4(CYBB):c.665A>G (p.His222Arg)	CYBB	Pathogenic	X	37655385	37655385	A	G	criteria provided, single submitter	UniProtKB:P04839#VAR_007881,UniProtKB/Swiss-Prot:VAR_007881,ClinGen:CA219738
single nucleotide variant	NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)	CYBB	Pathogenic	X	37663157	37663157	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219756,UniProtKB:P04839#VAR_007885,UniProtKB/Swiss-Prot:VAR_007885
single nucleotide variant	NM_000397.4(CYBB):c.965G>A (p.Gly322Glu)	CYBB	Pathogenic	X	37663197	37663197	G	A	criteria provided, single submitter	ClinGen:CA219758,UniProtKB:P04839#VAR_007886,UniProtKB/Swiss-Prot:VAR_007886
single nucleotide variant	NM_000397.4(CYBB):c.337+1G>T	CYBB	Pathogenic	X	37651313	37651313	G	T	criteria provided, single submitter	ClinGen:CA10588772
single nucleotide variant	NM_000397.4(CYBB):c.448G>T (p.Glu150Ter)	CYBB	Pathogenic	X	37653028	37653028	G	T	criteria provided, single submitter	ClinGen:CA10588773
single nucleotide variant	NM_000397.4(CYBB):c.469C>T (p.Arg157Ter)	CYBB	Pathogenic	X	37653049	37653049	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588774