若年性ポリポーシス症候群 - MGenReviews

若年性ポリポーシス症候群

腫瘍性疾患

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
Deletion	NM_005359.6(SMAD4):c.69del (p.Met24fs)	SMAD4	Pathogenic	18	48573485	48573485	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter)	SMAD4	Pathogenic	18	48573663	48573663	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter)	SMAD4	Pathogenic	18	48575205	48575205	C	A	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.443del (p.Leu148fs)	SMAD4	Pathogenic	18	48575683	48575683	CT	C	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.1067dup (p.Ser357fs)	SMAD4	Pathogenic	18	48591901	48591902	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)	SMAD4	Likely pathogenic	18	48593397	48593397	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)	SMAD4	Pathogenic	18	48593443	48593443	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter)	SMAD4	Pathogenic	18	48603062	48603062	C	T	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(87965482_?)del	BMPR1A	Pathogenic	10	88514773	89725239	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86876009)_(86876095_?)del	BMPR1A	Pathogenic	10	88635766	88635852	na	na	criteria provided, single submitter	-

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