原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.520C>T (p.Gln174Ter)	CD40LG	Likely pathogenic	X	135741308	135741308	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter)	CD40LG	Pathogenic	X	135741449	135741449	C	T	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_136648058)_(136659435_?)del	CD40LG	Pathogenic	X	135730217	135741594	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_136654353)_(136654450_?)del	CD40LG	Pathogenic	X	135736512	135736609	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001006658.3(CR2):c.1225+1G>C	CR2	Pathogenic	1	207643448	207643448	G	C	criteria provided, multiple submitters, no conflicts	OMIM:120650.0002,ClinGen:CA129908
single nucleotide variant	NM_001006658.3(CR2):c.424C>T (p.Arg142Ter)	CR2	Pathogenic	1	207640236	207640236	C	T	criteria provided, single submitter	ClinGen:CA1368411
Insertion	NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs)	CR2	Pathogenic	1	207646205	207646206	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_001006658.3(CR2):c.784G>T (p.Gly262Ter)	CR2	Pathogenic	1	207642544	207642544	G	T	criteria provided, single submitter	-
Deletion	NM_001006658.3(CR2):c.721_722del (p.Phe241fs)	CR2	Pathogenic	1	207642228	207642229	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter)	CR2	Pathogenic	1	207658858	207658858	C	T	criteria provided, single submitter	-