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

Excelでダウンロード

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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_000061.3(BTK):c.1696C>T (p.Pro566Ser)	BTK	Likely pathogenic	X	100608912	100608912	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1573C>G (p.Arg525Gly)	BTK	Likely pathogenic	X	100609676	100609676	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1546C>T (p.Gln516Ter)	BTK	Pathogenic	X	100611060	100611060	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1513G>T (p.Val505Phe)	BTK	Likely pathogenic	X	100611093	100611093	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1321G>T (p.Glu441Ter)	BTK	Pathogenic	X	100611800	100611800	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)	BTK	Pathogenic	X	100611859	100611859	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.756G>A (p.Trp252Ter)	BTK	Pathogenic	X	100615576	100615576	C	T	criteria provided, single submitter	-
Deletion	NM_000061.3(BTK):c.680del (p.Pro227fs)	BTK	Pathogenic	X	100615652	100615652	TG	T	criteria provided, single submitter	-
Deletion	NM_000061.3(BTK):c.564del (p.Pro190fs)	BTK	Pathogenic	X	100617185	100617185	GA	G	criteria provided, single submitter	-
Deletion	NM_000061.3(BTK):c.270del (p.Glu90fs)	BTK	Pathogenic	X	100626660	100626660	GC	G	criteria provided, single submitter	-

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