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_000251.3(MSH2):c.1457del (p.Asn486fs)	MSH2	Pathogenic	2	47690239	47690239	GA	G	reviewed by expert panel	ClinGen:CA018344
Deletion	NM_000251.3(MSH2):c.145_146del (p.Asp49fs)	MSH2	Pathogenic	2	47630475	47630476	GGA	G	reviewed by expert panel	ClinGen:CA018332
Deletion	NM_000251.3(MSH2):c.145del (p.Asp49fs)	MSH2	Pathogenic	2	47630474	47630474	AG	A	reviewed by expert panel	ClinGen:CA018350
Indel	NM_000251.3(MSH2):c.1476_1477delinsCT (p.Met492_Gln493delinsIleTer)	MSH2	Pathogenic	2	47690259	47690260	GC	CT	reviewed by expert panel	ClinGen:CA018378
single nucleotide variant	NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)	MSH2	Pathogenic	2	47690260	47690260	C	T	reviewed by expert panel	ClinGen:CA018386
single nucleotide variant	NM_000251.3(MSH2):c.1487T>A (p.Leu496Ter)	MSH2	Pathogenic	2	47690270	47690270	T	A	reviewed by expert panel	ClinGen:CA018422
Duplication	NM_000251.3(MSH2):c.1494dup (p.Ala499fs)	MSH2	Pathogenic	2	47690276	47690277	G	GT	reviewed by expert panel	ClinGen:CA018438
Deletion	NM_000251.3(MSH2):c.1497del (p.Ala500fs)	MSH2	Pathogenic	2	47690280	47690280	CA	C	reviewed by expert panel	ClinGen:CA018452
Duplication	NM_000251.3(MSH2):c.1500dup (p.Arg501fs)	MSH2	Pathogenic	2	47690281	47690282	G	GC	reviewed by expert panel	ClinGen:CA331306
single nucleotide variant	NM_000251.3(MSH2):c.1511-2A>G	MSH2	Pathogenic	2	47693795	47693795	A	G	reviewed by expert panel	ClinGen:CA018508

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