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.1285del (p.Gln429fs)	MSH2	Pathogenic	2	47672694	47672694	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369225
Insertion	NM_000251.3(MSH2):c.1354_1355insT (p.Glu452fs)	MSH2	Pathogenic	2	47672764	47672765	G	GT	criteria provided, single submitter	ClinGen:CA645369226
Deletion	NM_000251.3(MSH2):c.1394del (p.Asn465fs)	MSH2	Pathogenic	2	47690174	47690174	GA	G	criteria provided, single submitter	ClinGen:CA645369230
single nucleotide variant	NM_000251.3(MSH2):c.1510+1G>A	MSH2	Likely pathogenic	2	47690294	47690294	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346727215
Deletion	NM_000251.3(MSH2):c.1533del (p.Lys512fs)	MSH2	Pathogenic	2	47693818	47693818	AT	A	criteria provided, single submitter	ClinGen:CA645369213
Duplication	NM_000251.3(MSH2):c.1576dup (p.Thr526fs)	MSH2	Pathogenic	2	47693860	47693861	T	TA	criteria provided, single submitter	ClinGen:CA645369214
Indel	NM_000251.3(MSH2):c.1587_1597delinsT (p.Glu529fs)	MSH2	Pathogenic	2	47693873	47693883	AGAAAAAGTCC	T	criteria provided, single submitter	ClinGen:CA645369215
Deletion	NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)	MSH2	Pathogenic	2	47693934	47693935	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369216
Deletion	NM_000251.3(MSH2):c.1656del (p.Asn553fs)	MSH2	Pathogenic	2	47693941	47693941	AC	A	criteria provided, single submitter	ClinGen:CA645369217
single nucleotide variant	NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)	MSH2	Pathogenic	2	47698126	47698126	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346728082

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