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_001006658.3(CR2):c.3238C>T (p.Arg1080Ter)	CR2	Pathogenic	1	207658858	207658858	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter)	CR2	Pathogenic	1	207658831	207658831	C	T	criteria provided, single submitter	-
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.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.1078C>T (p.Arg360Ter)	CR2	Pathogenic	1	207643300	207643300	C	T	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.462T>A (p.Cys154Ter)	CR2	Pathogenic	1	207641888	207641888	T	A	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_001006658.3(CR2):c.243del (p.Lys81fs)	CR2	Pathogenic	1	207640053	207640053	TA	T	criteria provided, single submitter	-