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_003998.4(NFKB1):c.730+4A>G	NFKB1	Likely pathogenic	4	103500200	103500200	A	G	criteria provided, single submitter	ClinGen:CA358854,OMIM:164011.0001
Duplication	NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	NFKB1	Pathogenic/Likely pathogenic	4	103504086	103504087	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA3026009
Duplication	NM_003998.4(NFKB1):c.2602_2603dup (p.Thr869fs)	NFKB1	Pathogenic	4	103534587	103534588	T	TGG	criteria provided, single submitter	ClinGen:CA645372757
Deletion	NM_003998.4(NFKB1):c.702del (p.Val235fs)	NFKB1	Pathogenic	4	103500166	103500166	AC	A	criteria provided, single submitter	ClinGen:CA658657396
single nucleotide variant	NM_003998.4(NFKB1):c.835+1G>A	NFKB1	Likely pathogenic	4	103501797	103501797	G	A	criteria provided, single submitter	ClinGen:CA357960188
single nucleotide variant	NM_003998.4(NFKB1):c.2083G>T (p.Glu695Ter)	NFKB1	Pathogenic	4	103528435	103528435	G	T	criteria provided, single submitter	ClinGen:CA357752545
Duplication	NM_003998.4(NFKB1):c.317dup (p.Asn106fs)	NFKB1	Likely pathogenic	4	103488196	103488197	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_003998.4(NFKB1):c.1752+1G>A	NFKB1	Likely pathogenic	4	103522167	103522167	G	A	criteria provided, single submitter	-
Duplication	NM_003998.4(NFKB1):c.1361dup (p.Asn454fs)	NFKB1	Likely pathogenic	4	103517350	103517351	C	CA	criteria provided, single submitter	-
Duplication	NM_003998.4(NFKB1):c.500dup (p.Asn167fs)	NFKB1	Likely pathogenic	4	103498123	103498124	T	TA	criteria provided, single submitter	-