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_000397.4(CYBB):c.210dup (p.Val71fs)	CYBB	Pathogenic	X	37642810	37642811	C	CA	criteria provided, single submitter	ClinGen:CA658658976
single nucleotide variant	NM_000397.4(CYBB):c.599C>T (p.Ser200Phe)	CYBB	Likely pathogenic	X	37655319	37655319	C	T	criteria provided, single submitter	ClinGen:CA412976207
Deletion	NM_000397.4(CYBB):c.1618del (p.Glu540fs)	CYBB	Likely pathogenic	X	37670075	37670075	TG	T	criteria provided, single submitter	ClinGen:CA658658969
Deletion	NM_000397.4(CYBB):c.80_83del (p.Val27fs)	CYBB	Pathogenic	X	37641373	37641376	TTGTC	T	criteria provided, single submitter	ClinGen:CA658684293
Duplication	NM_000397.4(CYBB):c.1462-56_1586+68dup	CYBB	Pathogenic	X	37668762	37668763	T	TTGTATGTGCTTTTACAGAATGTCTCTTTTTTTTCTGAATTCATGTCCTTTCCTGTAGGCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGATGTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTCAAGACAATTGCAAGTCAACACCCTAAGTAAGGAGTCTGTCACCAAGATGTTTTTGAGGCTTGCATCTGCCTAAAGCGGCAGCCCCTATACATA	criteria provided, single submitter	ClinGen:CA658799716
Deletion	NM_000397.4(CYBB):c.960del (p.Val321fs)	CYBB	Pathogenic	X	37663191	37663191	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799713
single nucleotide variant	NM_000397.4(CYBB):c.1006G>T (p.Glu336Ter)	CYBB	Pathogenic	X	37663238	37663238	G	T	criteria provided, single submitter	ClinGen:CA412977257
Deletion	NM_000397.4(CYBB):c.37_45+2del	CYBB	Pathogenic	X	37639366	37639376	TTTTTGTCATTG	T	criteria provided, single submitter	ClinGen:CA658799687
single nucleotide variant	NM_000397.4(CYBB):c.1702G>A (p.Glu568Lys)	CYBB	Pathogenic	X	37670159	37670159	G	A	criteria provided, single submitter	ClinGen:CA412978883
single nucleotide variant	NM_000397.4(CYBB):c.781C>T (p.Gln261Ter)	CYBB	Pathogenic	X	37658314	37658314	C	T	criteria provided, single submitter	ClinGen:CA412976704