リンチ症候群 - MGenReviews

リンチ症候群

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
Indel	NM_000179.3(MSH6):c.2672_2674delinsC (p.Ile891fs)	MSH6	Pathogenic	2	48027794	48027796	TCT	C	reviewed by expert panel	ClinGen:CA010723
single nucleotide variant	NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)	MSH6	Pathogenic	2	48027836	48027836	T	A	reviewed by expert panel	ClinGen:CA010781
Deletion	NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)	MSH6	Pathogenic	2	48027840	48027841	CTG	C	reviewed by expert panel	ClinGen:CA010790
single nucleotide variant	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	MSH6	Pathogenic	2	48027853	48027853	C	T	reviewed by expert panel	ClinGen:CA010815
single nucleotide variant	NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	MSH6	Pathogenic	2	48027886	48027886	C	T	reviewed by expert panel	ClinGen:CA010831
Deletion	NM_000179.3(MSH6):c.2765del (p.Arg922fs)	MSH6	Pathogenic	2	48027887	48027887	CG	C	reviewed by expert panel	ClinGen:CA010842
Duplication	NM_000179.3(MSH6):c.2768dup (p.Thr924fs)	MSH6	Pathogenic	2	48027887	48027888	G	GA	reviewed by expert panel	ClinGen:CA010851
single nucleotide variant	NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)	MSH6	Pathogenic	2	48027937	48027937	C	T	reviewed by expert panel	ClinGen:CA010943
Deletion	NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)	MSH6	Pathogenic	2	48027973	48027980	CCTCCTGGA	C	reviewed by expert panel	ClinGen:CA010999
single nucleotide variant	NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)	MSH6	Pathogenic	2	48028053	48028053	C	G	reviewed by expert panel	ClinGen:CA011115

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