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
Deletion	NM_000397.4(CYBB):c.45+2del	CYBB	Likely pathogenic	X	37639377	37639377	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_012092.4(ICOS):c.394+2T>C	ICOS	Likely pathogenic	2	204820696	204820696	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_012092.4(ICOS):c.58+1G>A	ICOS	Likely pathogenic	2	204801596	204801596	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006060.6(IKZF1):c.500A>G (p.His167Arg)	IKZF1	Pathogenic	7	50450316	50450316	A	G	criteria provided, single submitter	ClinGen:CA354075,UniProtKB:Q13422#VAR_076403,OMIM:603023.0004
single nucleotide variant	NM_006060.6(IKZF1):c.584A>G (p.His195Arg)	IKZF1	Pathogenic	7	50450400	50450400	A	G	criteria provided, single submitter	ClinGen:CA367531694
Deletion	NM_006060.6(IKZF1):c.1480_1481del (p.Met494fs)	IKZF1	Likely pathogenic	7	50468245	50468246	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_006060.6(IKZF1):c.589+1G>T	IKZF1	Likely pathogenic	7	50450406	50450406	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)	IL2RG	Pathogenic	X	70328173	70328173	A	T	criteria provided, single submitter	ClinGen:CA120883,UniProtKB:P31785#VAR_002702,OMIM:308380.0008
single nucleotide variant	NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln)	IL2RG	Pathogenic	X	70328449	70328449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254992,UniProtKB:P31785#VAR_002701,OMIM:308380.0011
single nucleotide variant	NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)	IL2RG	Pathogenic	X	70329171	70329171	G	A	reviewed by expert panel	ClinGen:CA120885,UniProtKB:P31785#VAR_002688,OMIM:308380.0012