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.1276+2T>C	MSH2	Pathogenic/Likely pathogenic	2	47657082	47657082	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA027509
Deletion	NM_000251.3(MSH2):c.1302del (p.Val435fs)	MSH2	Pathogenic	2	47672712	47672712	CA	C	criteria provided, single submitter	ClinGen:CA279735
Duplication	NM_000251.3(MSH2):c.1394dup (p.Asn465fs)	MSH2	Pathogenic	2	47690173	47690174	G	GA	criteria provided, single submitter	ClinGen:CA279796
single nucleotide variant	NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)	MSH2	Pathogenic	2	47690264	47690264	C	G	criteria provided, single submitter	ClinGen:CA248506
Deletion	NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs)	MSH2	Pathogenic	2	47693824	47693825	CTG	C	criteria provided, single submitter	ClinGen:CA279678
single nucleotide variant	NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)	MSH2	Pathogenic/Likely pathogenic	2	47702266	47702266	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA210371
Duplication	NM_000251.3(MSH2):c.2236dup (p.Ile746fs)	MSH2	Pathogenic	2	47705434	47705435	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA279771
Insertion	NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)	MSH2	Pathogenic	2	47705495	47705496	T	TTA	criteria provided, single submitter	ClinGen:CA279700
Deletion	NM_000251.3(MSH2):c.2297del (p.Ile766fs)	MSH2	Pathogenic	2	47705497	47705497	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279670
single nucleotide variant	NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)	MSH2	Pathogenic	2	47705500	47705500	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279719

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