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

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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_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)	MLH1	Pathogenic	3	37089068	37089069	GG	ATCTGGACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA279826
Deletion	NM_000249.4(MLH1):c.2059del (p.Arg687fs)	MLH1	Pathogenic	3	37090463	37090463	TC	T	criteria provided, single submitter	ClinGen:CA279809
single nucleotide variant	NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)	MSH6	Pathogenic	2	48032832	48032832	T	C	reviewed by expert panel	ClinGen:CA350757
single nucleotide variant	NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)	MLH1	Likely pathogenic	3	37083767	37083767	T	C	reviewed by expert panel	ClinGen:CA348372
single nucleotide variant	NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)	MLH1	Pathogenic	3	37092136	37092136	A	G	reviewed by expert panel	ClinGen:CA350722
Deletion	NM_000179.2(MSH6):c.458-?_3172+?del	MSH6	Pathogenic	2	48023033	48028294	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002354.3(EPCAM):c.491+1G>T	EPCAM	Pathogenic	2	47602439	47602439	G	T	criteria provided, single submitter	ClinGen:CA349323
single nucleotide variant	NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)	MSH2	Pathogenic/Likely pathogenic	2	47639655	47639655	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA348603
Indel	NM_000251.3(MSH2):c.819_821delinsTG (p.Ile274fs)	MSH2	Pathogenic	2	47641434	47641436	AAT	TG	criteria provided, single submitter	ClinGen:CA349973
single nucleotide variant	NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)	MSH2	Pathogenic	2	47641457	47641457	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349474

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