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_000061.3(BTK):c.232C>T (p.Gln78Ter)	BTK	Pathogenic	X	100629532	100629532	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1751-1G>C	BTK	Pathogenic	X	100608340	100608340	C	G	criteria provided, single submitter	-
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_001770.6(CD19):c.1372+1G>A	CD19	Likely pathogenic	16	28948845	28948845	G	A	criteria provided, single submitter	ClinGen:CA16620185
single nucleotide variant	NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro)	CD40LG	Pathogenic	X	135741252	135741252	T	C	criteria provided, single submitter	ClinGen:CA255747,UniProtKB:P29965#VAR_007521,OMIM:300386.0004
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_000074.3(CD40LG):c.418T>G (p.Trp140Gly)	CD40LG	Likely pathogenic	X	135741206	135741206	T	G	criteria provided, single submitter	ClinGen:CA255754,UniProtKB:P29965#VAR_007518,OMIM:300386.0008
single nucleotide variant	NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)	CD40LG	Pathogenic	X	135738536	135738536	C	A	criteria provided, single submitter	ClinGen:CA255756,UniProtKB:P29965#VAR_007514,OMIM:300386.0012
Deletion	NM_000074.3(CD40LG):c.189del (p.Phe63fs)	CD40LG	Likely pathogenic	X	135732454	135732454	AT	A	criteria provided, single submitter	ClinGen:CA260202
single nucleotide variant	NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)	CD40LG	Pathogenic	X	135730438	135730438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260203