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
Deletion	NM_000101.4(CYBA):c.246del (p.Phe83fs)	CYBA	Pathogenic/Likely pathogenic	16	88713204	88713204	AG	A	criteria provided, multiple submitters, no conflicts	OMIM:608508.0002
single nucleotide variant	NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)	CYBA	Pathogenic/Likely pathogenic	16	88713182	88713182	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219176,UniProtKB:P13498#VAR_060579,UniProtKB/Swiss-Prot:VAR_060579
single nucleotide variant	NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)	CYBA	Pathogenic/Likely pathogenic	16	88714511	88714511	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P13498#VAR_012755,OMIM:608508.0010,ClinGen:CA115462
single nucleotide variant	NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)	CD40LG	Pathogenic/Likely pathogenic	X	135738541	135738541	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)	CD40LG	Pathogenic/Likely pathogenic	X	135730514	135730514	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA255749,UniProtKB:P29965#VAR_007513,OMIM:300386.0006
single nucleotide variant	NM_000061.3(BTK):c.777-1G>A	BTK	Pathogenic/Likely pathogenic	X	100615139	100615139	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000061.3(BTK):c.588+1G>T	BTK	Pathogenic/Likely pathogenic	X	100617160	100617160	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000061.3(BTK):c.895-2A>G	BTK	Pathogenic/Likely pathogenic	X	100613686	100613686	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260198
single nucleotide variant	NM_000061.3(BTK):c.777-2A>G	BTK	Pathogenic/Likely pathogenic	X	100615140	100615140	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260195
single nucleotide variant	NM_000061.3(BTK):c.862C>T (p.Arg288Trp)	BTK	Pathogenic/Likely pathogenic	X	100614313	100614313	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255812,UniProtKB:Q06187#VAR_006227,OMIM:300300.0025