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_012092.4(ICOS):c.394+2T>C	ICOS	Likely pathogenic	2	204820696	204820696	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_012092.4(ICOS):c.58+1G>A	ICOS	Likely pathogenic	2	204801596	204801596	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000433.4(NCF2):c.40del (p.Val14fs)	NCF2	Pathogenic	1	183559425	183559425	AC	A	criteria provided, single submitter	-
Deletion	NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)	NCF2	Pathogenic	1	183559402	183559410	AGTCCTTCTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212794,OMIM:608515.0006
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_000433.4(NCF2):c.298C>T (p.Gln100Ter)	NCF2	Pathogenic	1	183546802	183546802	G	A	criteria provided, single submitter	OMIM:608515.0009,ClinGen:CA115430
single nucleotide variant	NM_000433.4(NCF2):c.304C>T (p.Arg102Ter)	NCF2	Pathogenic	1	183546796	183546796	G	A	criteria provided, single submitter	ClinGen:CA212789,OMIM:608515.0003
single nucleotide variant	NM_000433.4(NCF2):c.366+1G>C	NCF2	Pathogenic	1	183546733	183546733	C	G	criteria provided, single submitter	ClinGen:CA16042315
single nucleotide variant	NM_000433.4(NCF2):c.366+1G>A	NCF2	Pathogenic	1	183546733	183546733	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA212793,OMIM:608515.0005
Deletion	NM_000433.4(NCF2):c.482del (p.Lys161fs)	NCF2	Pathogenic	1	183543641	183543641	CT	C	criteria provided, single submitter	-