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_000377.3(WAS):c.413G>C (p.Arg138Pro)	WAS	Pathogenic	X	48544175	48544175	G	C	criteria provided, single submitter	ClinGen:CA412867848
Deletion	NM_000377.3(WAS):c.852del (p.Glu285fs)	WAS	Likely pathogenic	X	48546762	48546762	GC	G	criteria provided, single submitter	ClinGen:CA658684301
single nucleotide variant	NM_000377.3(WAS):c.290G>A (p.Trp97Ter)	WAS	Likely pathogenic	X	48543952	48543952	G	A	criteria provided, single submitter	ClinGen:CA412866888
single nucleotide variant	NM_000377.3(WAS):c.553C>T (p.Gln185Ter)	WAS	Likely pathogenic	X	48544517	48544517	C	T	criteria provided, single submitter	ClinGen:CA412869529
Duplication	NM_000377.3(WAS):c.1271dup (p.Leu425fs)	WAS	Pathogenic	X	48547383	48547384	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684302
single nucleotide variant	NM_000377.3(WAS):c.271C>T (p.Gln91Ter)	WAS	Pathogenic	X	48542810	48542810	C	T	criteria provided, single submitter	ClinGen:CA412866685
single nucleotide variant	NM_000377.3(WAS):c.91G>A (p.Glu31Lys)	WAS	Pathogenic/Likely pathogenic	X	48542333	48542333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412865672
Deletion	NM_000377.3(WAS):c.1001del (p.Gly334fs)	WAS	Pathogenic	X	48547113	48547113	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000377.3(WAS):c.734+2T>A	WAS	Pathogenic	X	48545346	48545346	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.257G>C (p.Arg86Pro)	WAS	Likely pathogenic	X	48542796	48542796	G	C	criteria provided, single submitter	-

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