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.304C>T (p.Arg102Ter)	NCF2	Pathogenic	1	183546796	183546796	G	A	criteria provided, single submitter	ClinGen:CA212789,OMIM:608515.0003
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
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
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
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.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
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.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.366+1G>C	NCF2	Pathogenic	1	183546733	183546733	C	G	criteria provided, single submitter	ClinGen:CA16042315
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