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_000433.4(NCF2):c.257+1G>A	NCF2	Pathogenic/Likely pathogenic	1	183556029	183556029	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042303
single nucleotide variant	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	NCF1	Pathogenic/Likely pathogenic	7	74197872	74197872	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4298223
single nucleotide variant	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	IL2RG	Pathogenic/Likely pathogenic	X	70327714	70327714	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621482
single nucleotide variant	NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)	IL2RG	Pathogenic/Likely pathogenic	X	70329165	70329165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358778,UniProtKB:P31785#VAR_002689
single nucleotide variant	NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)	IL2RG	Pathogenic/Likely pathogenic	X	70330145	70330145	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA260413
single nucleotide variant	NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)	IL2RG	Pathogenic/Likely pathogenic	X	70330494	70330494	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260411,UniProtKB:P31785#VAR_002674
single nucleotide variant	NM_000206.3(IL2RG):c.270-1G>T	IL2RG	Pathogenic/Likely pathogenic	X	70330539	70330539	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260410
Duplication	NM_000397.4(CYBB):c.1237dup (p.Val413fs)	CYBB	Pathogenic/Likely pathogenic	X	37664340	37664341	T	TG	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_000101.4(CYBA):c.166del (p.Arg56fs)	CYBA	Pathogenic/Likely pathogenic	16	88713546	88713546	CG	C	criteria provided, multiple submitters, no conflicts	-