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
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	-
single nucleotide variant	NM_000433.4(NCF2):c.565C>T (p.Gln189Ter)	NCF2	Pathogenic	1	183542364	183542364	G	A	criteria provided, single submitter	ClinGen:CA203008
single nucleotide variant	NM_000433.4(NCF2):c.605C>T (p.Ala202Val)	NCF2	Likely pathogenic	1	183542324	183542324	G	A	criteria provided, single submitter	ClinGen:CA145227,UniProtKB:P19878#VAR_065016,UniProtKB/Swiss-Prot:VAR_065016
Deletion	NM_000433.4(NCF2):c.835_836del (p.Thr279fs)	NCF2	Pathogenic	1	183536358	183536359	CGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617029
Deletion	NM_000433.4(NCF2):c.904del (p.His302fs)	NCF2	Pathogenic	1	183536075	183536075	TG	T	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_183536035)_(183536500_?)dup	NCF2	Pathogenic	1	183536035	183536500	na	na	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	-
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	-
Deletion	NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs)	NCF2	Pathogenic	1	183532572	183532576	CAGCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA212792,OMIM:608515.0004
Deletion	NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer)	NCF2	Pathogenic	1	183529374	183529378	ACTTTC	A	criteria provided, single submitter	-