原発性免疫不全症候群 - MGenReviews

原発性免疫不全症候群

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.388del (p.Arg130fs)	CYBB	Pathogenic	X	37652966	37652966	GC	G	criteria provided, single submitter	ClinGen:CA10603724
single nucleotide variant	NM_000397.4(CYBB):c.898-2A>C	CYBB	Pathogenic	X	37663128	37663128	A	C	criteria provided, single submitter	ClinGen:CA16043266
Deletion	NM_000397.4(CYBB):c.85del (p.Tyr29fs)	CYBB	Pathogenic	X	37641380	37641380	GT	G	criteria provided, single submitter	ClinGen:CA16621365
Duplication	NM_000397.4(CYBB):c.602_605dup (p.Phe202fs)	CYBB	Pathogenic	X	37655318	37655319	T	TCTTA	criteria provided, single submitter	ClinGen:CA16621367
Duplication	NM_000397.4(CYBB):c.1662dup (p.Glu555Ter)	CYBB	Pathogenic	X	37670118	37670119	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621368
single nucleotide variant	NM_000397.4(CYBB):c.343C>T (p.His115Tyr)	CYBB	Likely pathogenic	X	37652923	37652923	C	T	criteria provided, single submitter	ClinGen:CA412974970
single nucleotide variant	NM_000397.4(CYBB):c.483+1G>T	CYBB	Pathogenic	X	37653064	37653064	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412975615
single nucleotide variant	NM_000397.4(CYBB):c.1169C>T (p.Pro390Leu)	CYBB	Likely pathogenic	X	37664276	37664276	C	T	criteria provided, single submitter	ClinGen:CA412977641
Deletion	NM_000397.4(CYBB):c.54_79del (p.Trp18fs)	CYBB	Pathogenic	X	37641345	37641370	GTTTGGCTGGGGTTGAACGTCTTCCTC	G	criteria provided, single submitter	ClinGen:CA645372681
single nucleotide variant	NM_000397.4(CYBB):c.141+1G>T	CYBB	Pathogenic	X	37641437	37641437	G	T	criteria provided, single submitter	ClinGen:CA412972684

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