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
Duplication	NM_003998.4(NFKB1):c.830dup (p.Lys278fs)	NFKB1	Pathogenic/Likely pathogenic	4	103501790	103501791	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003998.4(NFKB1):c.1402C>T (p.Gln468Ter)	NFKB1	Likely pathogenic	4	103517396	103517396	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003998.4(NFKB1):c.835+2T>C	NFKB1	Likely pathogenic	4	103501798	103501798	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)	NFKB2	Pathogenic	10	104161895	104161895	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA144753,OMIM:164012.0002
single nucleotide variant	NM_001322934.2(NFKB2):c.2609G>A (p.Ser870Asn)	NFKB2	Likely pathogenic	10	104162039	104162039	G	A	criteria provided, single submitter	ClinGen:CA16618923
Deletion	NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs)	NFKB2	Likely pathogenic	10	104161909	104161913	CCAGCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001322934.2(NFKB2):c.937C>T (p.Arg313Ter)	NFKB2	Pathogenic	10	104158226	104158226	C	T	criteria provided, single submitter	-
Duplication	NM_001379200.1(TBX1):c.525_528dup (p.Lys177delinsArgTer)	TBX1	Pathogenic	22	19750850	19750851	A	ACGAT	criteria provided, single submitter	ClinGen:CA10603687
Duplication	NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408fs)	TBX1	Pathogenic	22	19754074	19754075	G	GCCGGCCCAGTCCCCCGAACC	criteria provided, single submitter	ClinGen:CA16043162
single nucleotide variant	NM_001379200.1(TBX1):c.823G>T (p.Glu275Ter)	TBX1	Pathogenic	22	19752592	19752592	G	T	criteria provided, single submitter	ClinGen:CA16621036