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.462T>A (p.Cys154Ter)	CR2	Pathogenic	1	207641888	207641888	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001006658.3(CR2):c.243del (p.Lys81fs)	CR2	Pathogenic	1	207640053	207640053	TA	T	criteria provided, single submitter	-
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.3211C>T (p.Gln1071Ter)	CR2	Pathogenic	1	207658831	207658831	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)	CYBA	Pathogenic	16	88713181	88713181	C	T	criteria provided, single submitter	ClinGen:CA115448,UniProtKB:P13498#VAR_005123,OMIM:608508.0003
single nucleotide variant	NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)	CYBA	Pathogenic	16	88717415	88717415	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA115459,OMIM:608508.0009
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_000101.4(CYBA):c.155T>C (p.Leu52Pro)	CYBA	Pathogenic	16	88713557	88713557	A	G	criteria provided, single submitter	ClinGen:CA219172,UniProtKB:P13498#VAR_060577,UniProtKB/Swiss-Prot:VAR_060577
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
Deletion	NM_000101.4(CYBA):c.288-3_300del	CYBA	Likely pathogenic	16	88712593	88712608	CGGGCACCGAGAGCCTG	C	criteria provided, multiple submitters, no conflicts	-