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_000074.3(CD40LG):c.761C>T (p.Thr254Met)	CD40LG	Pathogenic	X	135741549	135741549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260209,UniProtKB:P29965#VAR_007528
single nucleotide variant	NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu)	CD40LG	Likely pathogenic	X	135741219	135741219	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588744,UniProtKB:P29965#VAR_007520
Deletion	NM_000074.3(CD40LG):c.638del (p.Ser213fs)	CD40LG	Pathogenic	X	135741426	135741426	AG	A	criteria provided, single submitter	ClinGen:CA10603705
Deletion	NM_000074.3(CD40LG):c.478del (p.Gln160fs)	CD40LG	Likely pathogenic	X	135741266	135741266	AC	A	criteria provided, single submitter	ClinGen:CA16043175
single nucleotide variant	NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)	CD40LG	Likely pathogenic	X	135741555	135741555	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608289
single nucleotide variant	NM_000074.3(CD40LG):c.464T>A (p.Leu155Gln)	CD40LG	Likely pathogenic	X	135741252	135741252	T	A	criteria provided, single submitter	ClinGen:CA16621210
single nucleotide variant	NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)	CD40LG	Pathogenic	X	135741446	135741446	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA414756355
single nucleotide variant	NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro)	CD40LG	Pathogenic	X	135741209	135741209	G	C	criteria provided, single submitter	ClinGen:CA414755575
single nucleotide variant	NM_000074.3(CD40LG):c.216C>A (p.Cys72Ter)	CD40LG	Pathogenic	X	135732484	135732484	C	A	criteria provided, single submitter	ClinGen:CA414753207
Deletion	NM_000074.3(CD40LG):c.346+1del	CD40LG	Pathogenic	X	135736589	135736589	AG	A	criteria provided, single submitter	ClinGen:CA658659047