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_000377.3(WAS):c.91G>A (p.Glu31Lys)	WAS	Pathogenic/Likely pathogenic	X	48542333	48542333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412865672
single nucleotide variant	NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	WAS	Pathogenic/Likely pathogenic	X	48546792	48546792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281104,OMIM:300392.0025
single nucleotide variant	NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	WAS	Pathogenic/Likely pathogenic	X	48546720	48546720	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280988,UniProtKB:P42768#VAR_033256,OMIM:300392.0012
single nucleotide variant	NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)	TNFRSF13B	Pathogenic/Likely pathogenic	17	16852186	16852186	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs)	TNFRSF13B	Pathogenic/Likely pathogenic	17	16875341	16875341	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798719
single nucleotide variant	NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)	TNFRSF13B	Pathogenic/Likely pathogenic	17	16843779	16843779	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA203874
Duplication	NM_003998.4(NFKB1):c.830dup (p.Lys278fs)	NFKB1	Pathogenic/Likely pathogenic	4	103501790	103501791	C	CA	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_000631.5(NCF4):c.118-1G>A	NCF4	Pathogenic/Likely pathogenic	22	37260960	37260960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10212869,OMIM:601488.0003
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	-