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.1315-1G>A	CYBB	Pathogenic	X	37665639	37665639	G	A	criteria provided, single submitter	ClinGen:CA412977971
single nucleotide variant	NM_000397.4(CYBB):c.1011G>A (p.Trp337Ter)	CYBB	Pathogenic	X	37663243	37663243	G	A	criteria provided, single submitter	-
Deletion	NM_000397.4(CYBB):c.1466_1467del (p.Asn489fs)	CYBB	Pathogenic	X	37668824	37668825	AAT	A	criteria provided, single submitter	-
Duplication	NM_000397.4(CYBB):c.1237dup (p.Val413fs)	CYBB	Pathogenic/Likely pathogenic	X	37664340	37664341	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile)	CYBB	Likely pathogenic	X	37663317	37663317	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000397.4(CYBB):c.1462-1G>A	CYBB	Likely pathogenic	X	37668819	37668819	G	A	criteria provided, single submitter	-
Duplication	NM_000397.4(CYBB):c.1313dup (p.Ile439fs)	CYBB	Pathogenic	X	37664415	37664416	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000397.4(CYBB):c.1320C>G (p.Tyr440Ter)	CYBB	Pathogenic	X	37665645	37665645	C	G	criteria provided, single submitter	-
Deletion	NM_000397.4(CYBB):c.1689del (p.Phe563fs)	CYBB	Likely pathogenic	X	37670146	37670146	TC	T	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_37780009)_(37783620_?)del	CYBB	Pathogenic	X	37639262	37642873	na	na	criteria provided, single submitter	-

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