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	NC_000022.10:g.(?_18900668)_(19770565_?)del	TBX1	Pathogenic	22	18900668	19770565	na	na	criteria provided, single submitter	-
Deletion	NC_000022.10:g.(?_18910310)_(19770565_?)del	TBX1	Pathogenic	22	18910310	19770565	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_19755901)_(19783042_?)del	TBX1	Pathogenic	22	19743424	19770565	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_19722428)_(19975757_?)del	TBX1	Pathogenic	22	19709951	19963280	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001770.6(CD19):c.1372+1G>A	CD19	Likely pathogenic	16	28948845	28948845	G	A	criteria provided, single submitter	ClinGen:CA16620185
single nucleotide variant	NM_000631.5(NCF4):c.118-1G>A	NCF4	Pathogenic/Likely pathogenic	22	37260960	37260960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10212869,OMIM:601488.0003
single nucleotide variant	NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)	NCF4	Pathogenic	22	37263476	37263476	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129011,UniProtKB:Q15080#VAR_065949,OMIM:601488.0002
Deletion	NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)	CYBB	Likely pathogenic	X	37639345	37639345	CT	C	criteria provided, single submitter	ClinGen:CA213627
Duplication	NM_000397.4(CYBB):c.23_26dup (p.Leu10fs)	CYBB	Pathogenic	X	37639351	37639352	T	TGAGG	criteria provided, single submitter	ClinGen:CA10603660
Deletion	NM_000397.4(CYBB):c.37_45+2del	CYBB	Pathogenic	X	37639366	37639376	TTTTTGTCATTG	T	criteria provided, single submitter	ClinGen:CA658799687