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
single nucleotide variant	NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)	MSH2	Pathogenic	2	47705491	47705491	G	A	reviewed by expert panel	ClinGen:CA020422
single nucleotide variant	NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)	MSH2	Pathogenic	2	47705492	47705492	G	A	reviewed by expert panel	ClinGen:CA020435
Deletion	NM_000251.3(MSH2):c.2294del (p.Ala765fs)	MSH2	Pathogenic	2	47705494	47705494	GC	G	reviewed by expert panel	ClinGen:CA020445
Deletion	NM_000251.3(MSH2):c.2295del (p.Ile766fs)	MSH2	Pathogenic	2	47705495	47705495	CT	C	reviewed by expert panel	ClinGen:CA020449
Deletion	NM_000251.3(MSH2):c.2305del (p.Tyr769fs)	MSH2	Pathogenic	2	47705505	47705505	AT	A	reviewed by expert panel	ClinGen:CA020463
single nucleotide variant	NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)	MSH2	Pathogenic	2	47705534	47705534	C	A	reviewed by expert panel	ClinGen:CA020471
Duplication	NM_000251.3(MSH2):c.2335dup (p.Met779fs)	MSH2	Pathogenic	2	47705534	47705535	C	CA	reviewed by expert panel	ClinGen:CA020475
Deletion	NM_000251.3(MSH2):c.2347del (p.His783fs)	MSH2	Pathogenic	2	47705545	47705545	AC	A	reviewed by expert panel	ClinGen:CA020483
Duplication	NM_000251.3(MSH2):c.2360_2361dup (p.Thr788fs)	MSH2	Pathogenic	2	47705559	47705560	C	CTT	reviewed by expert panel	ClinGen:CA020503
Duplication	NM_000251.3(MSH2):c.2361dup (p.Thr788fs)	MSH2	Pathogenic	2	47705559	47705560	C	CT	reviewed by expert panel	ClinGen:CA331504

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