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
single nucleotide variant	NM_000397.4(CYBB):c.484-2A>T	CYBB	Pathogenic	X	37655202	37655202	A	T	criteria provided, single submitter	ClinGen:CA10588775
single nucleotide variant	NM_000397.4(CYBB):c.868C>T (p.Arg290Ter)	CYBB	Pathogenic	X	37660572	37660572	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588776
single nucleotide variant	NM_000397.4(CYBB):c.907C>T (p.His303Tyr)	CYBB	Pathogenic	X	37663139	37663139	C	T	criteria provided, single submitter	ClinGen:CA10588777
single nucleotide variant	NM_000397.4(CYBB):c.1449G>A (p.Trp483Ter)	CYBB	Pathogenic	X	37665774	37665774	G	A	criteria provided, single submitter	ClinGen:CA10588778
single nucleotide variant	NM_000397.4(CYBB):c.1498G>C (p.Asp500His)	CYBB	Pathogenic	X	37668856	37668856	G	C	criteria provided, single submitter	ClinGen:CA10588779
single nucleotide variant	NM_000397.4(CYBB):c.1272G>A (p.Trp424Ter)	CYBB	Pathogenic	X	37664379	37664379	G	A	criteria provided, single submitter	ClinGen:CA10603479
Duplication	NM_000397.4(CYBB):c.742dup (p.Ile248fs)	CYBB	Pathogenic	X	37658269	37658270	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603586
Duplication	NM_000397.4(CYBB):c.23_26dup (p.Leu10fs)	CYBB	Pathogenic	X	37639351	37639352	T	TGAGG	criteria provided, single submitter	ClinGen:CA10603660
single nucleotide variant	NM_000397.4(CYBB):c.271C>T (p.Arg91Ter)	CYBB	Pathogenic	X	37651246	37651246	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603661
Deletion	NM_000397.4(CYBB):c.1573del (p.Ser525fs)	CYBB	Pathogenic	X	37668930	37668930	CA	C	criteria provided, single submitter	ClinGen:CA10603664

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