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
Duplication	NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408fs)	TBX1	Pathogenic	22	19754074	19754075	G	GCCGGCCCAGTCCCCCGAACC	criteria provided, single submitter	ClinGen:CA16043162
single nucleotide variant	NM_001379200.1(TBX1):c.1296C>G (p.Tyr432Ter)	TBX1	Likely pathogenic	22	19754171	19754171	C	G	criteria provided, single submitter	ClinGen:CA410684880
Deletion	NM_001379200.1(TBX1):c.1336_1337del (p.Pro446fs)	TBX1	Likely pathogenic	22	19754210	19754211	ACC	A	criteria provided, single submitter	ClinGen:CA658799490
Duplication	NM_001379200.1(TBX1):c.1360_1381dup (p.Pro461fs)	TBX1	Likely pathogenic	22	19754233	19754234	A	ACGGCTACCACCCGCACGCGCAT	criteria provided, single submitter	ClinGen:CA16621037
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	NC_000023.11:g.(?_37780009)_(37783620_?)del	CYBB	Pathogenic	X	37639262	37642873	na	na	criteria provided, single submitter	-
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