原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NC_000001.10:g.(?_183536035)_(183536500_?)dup	NCF2	Pathogenic	1	183536035	183536500	na	na	criteria provided, single submitter	-
Deletion	NM_000433.4(NCF2):c.482del (p.Lys161fs)	NCF2	Pathogenic	1	183543641	183543641	CT	C	criteria provided, single submitter	-
Deletion	NM_000433.4(NCF2):c.40del (p.Val14fs)	NCF2	Pathogenic	1	183559425	183559425	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000433.4(NCF2):c.1026+1G>C	NCF2	Likely pathogenic	1	183533139	183533139	C	G	criteria provided, single submitter	-
Deletion	NM_000433.4(NCF2):c.904del (p.His302fs)	NCF2	Pathogenic	1	183536075	183536075	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)	NCF2	Pathogenic/Likely pathogenic	1	183542379	183542379	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer)	NCF2	Pathogenic	1	183529374	183529378	ACTTTC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter)	NCF2	Pathogenic	1	183532627	183532627	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)	NCF4	Pathogenic	22	37263476	37263476	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129011,UniProtKB:Q15080#VAR_065949,OMIM:601488.0002
single nucleotide variant	NM_000631.5(NCF4):c.118-1G>A	NCF4	Pathogenic/Likely pathogenic	22	37260960	37260960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10212869,OMIM:601488.0003