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_012452.3(TNFRSF13B):c.61+1G>T	TNFRSF13B	Pathogenic	17	16875328	16875328	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.257G>A (p.Arg86His)	WAS	Pathogenic	X	48542796	48542796	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341003,UniProtKB:P42768#VAR_005830,OMIM:300392.0003
single nucleotide variant	NM_000377.3(WAS):c.167C>T (p.Ala56Val)	WAS	Pathogenic	X	48542706	48542706	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255723,UniProtKB:P42768#VAR_005827,OMIM:300392.0004
single nucleotide variant	NM_000377.3(WAS):c.244T>C (p.Ser82Pro)	WAS	Likely pathogenic	X	48542783	48542783	T	C	criteria provided, single submitter	ClinGen:CA121359,UniProtKB:P42768#VAR_005829,OMIM:300392.0009
single nucleotide variant	NM_000377.3(WAS):c.134C>T (p.Thr45Met)	WAS	Pathogenic	X	48542673	48542673	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255728,UniProtKB:P42768#VAR_008106,OMIM:300392.0010
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
Deletion	NM_000377.3(WAS):c.11del (p.Gly4fs)	WAS	Pathogenic	X	48542249	48542249	TG	T	criteria provided, single submitter	ClinGen:CA341015,OMIM:300392.0019
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.310C>T (p.Gln104Ter)	WAS	Likely pathogenic	X	48543972	48543972	C	T	criteria provided, single submitter	ClinGen:CA342894
single nucleotide variant	NM_000377.3(WAS):c.37C>T (p.Arg13Ter)	WAS	Pathogenic	X	48542279	48542279	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342897