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
Deletion	NM_000179.3(MSH6):c.1923del (p.Glu641fs)	MSH6	Pathogenic	2	48027044	48027044	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA46709932
Duplication	NM_000251.3(MSH2):c.153dup (p.Leu52fs)	MSH2	Pathogenic	2	47630482	47630483	T	TG	criteria provided, single submitter	ClinGen:CA658655663
Deletion	NM_000251.3(MSH2):c.206del (p.Pro69fs)	MSH2	Pathogenic	2	47630535	47630535	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655674
Duplication	NM_000179.3(MSH6):c.2238dup (p.Leu747fs)	MSH6	Pathogenic	2	48027355	48027356	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655805
Insertion	NM_000179.3(MSH6):c.2371_2372insAGAC (p.Arg791fs)	MSH6	Pathogenic	2	48027492	48027493	T	TCAGA	criteria provided, single submitter	ClinGen:CA658655813
Deletion	NM_000179.3(MSH6):c.2693del (p.Pro898fs)	MSH6	Pathogenic	2	48027814	48027814	TC	T	criteria provided, single submitter	ClinGen:CA658655660
single nucleotide variant	NM_000179.3(MSH6):c.3159T>A (p.Cys1053Ter)	MSH6	Pathogenic	2	48028281	48028281	T	A	criteria provided, single submitter	ClinGen:CA346756727
Deletion	NM_000251.3(MSH2):c.628_629del (p.Met210fs)	MSH2	Pathogenic	2	47637494	47637495	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655699
Duplication	NM_000179.3(MSH6):c.988dup (p.Ser330fs)	MSH6	Pathogenic	2	48026107	48026108	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655728
Deletion	NM_000251.3(MSH2):c.939del (p.Gln314fs)	MSH2	Pathogenic	2	47641550	47641550	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655717

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