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
single nucleotide variant	NM_001364905.1(LRBA):c.2258+2T>G	LRBA	Likely pathogenic	4	151793813	151793813	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)	LRBA	Pathogenic	4	151199141	151199141	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)	LRBA	Pathogenic	4	151356775	151356775	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001364905.1(LRBA):c.5645+2T>A	LRBA	Likely pathogenic	4	151682933	151682933	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000265.7(NCF1):c.125G>A (p.Arg42Gln)	NCF1	Pathogenic	7	74191665	74191665	G	A	criteria provided, single submitter	ClinGen:CA115440,OMIM:608512.0003
Duplication	NM_000265.7(NCF1):c.186dup (p.Gly63fs)	NCF1	Pathogenic	7	74193459	74193460	C	CA	criteria provided, single submitter	ClinGen:CA10603038
single nucleotide variant	NM_000265.6(NCF1):c.*179G>A	NCF1	Pathogenic	7	74203683	74203683	G	A	criteria provided, single submitter	ClinGen:CA16044276
single nucleotide variant	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	NCF1	Pathogenic/Likely pathogenic	7	74197872	74197872	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4298223
single nucleotide variant	NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	NCF1	Pathogenic	7	74191664	74191664	C	T	criteria provided, single submitter	-
Duplication	NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs)	NCF1	Likely pathogenic	7	74193657	74193658	C	CCGAG	criteria provided, single submitter	-