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_004329.3(BMPR1A):c.39del (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635813	88635813	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)	BMPR1A	Pathogenic	10	88649940	88649940	C	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.1065del (p.Lys355fs)	BMPR1A	Pathogenic	10	88679125	88679125	AG	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.-1_2del (p.Met1del)	BMPR1A	Likely pathogenic	10	88635775	88635777	CAAT	C	criteria provided, single submitter	-
Insertion	NM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle)	BMPR1A	Pathogenic	10	88649861	88649862	C	CCCATGGCACTGGGAT	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.150del (p.Ala51fs)	BMPR1A	Pathogenic	10	88649901	88649901	TA	T	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.244del (p.Cys82fs)	BMPR1A	Pathogenic	10	88651896	88651896	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser)	BMPR1A	Likely pathogenic	10	88659587	88659587	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter)	BMPR1A	Pathogenic	10	88677028	88677028	G	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.1267del (p.Gln423fs)	BMPR1A	Pathogenic	10	88681376	88681376	TC	T	criteria provided, single submitter	-

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