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	NC_000002.12:g.(?_47803420)_(47805027_?)del	MSH6	Pathogenic	2	48030559	48032166	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)	MSH2	Pathogenic	2	47635678	47635678	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610782
Duplication	NM_000251.3(MSH2):c.510dup (p.Arg171fs)	MSH2	Pathogenic	2	47637375	47637376	A	AG	criteria provided, single submitter	ClinGen:CA16610786
Duplication	NM_000251.3(MSH2):c.1308dup (p.Val437fs)	MSH2	Pathogenic	2	47672713	47672714	G	GT	criteria provided, single submitter	ClinGen:CA16610791
Duplication	NM_000251.3(MSH2):c.1667dup (p.Leu556fs)	MSH2	Pathogenic	2	47698107	47698108	A	AT	criteria provided, single submitter	ClinGen:CA16610808
single nucleotide variant	NM_000251.3(MSH2):c.1759+1G>C	MSH2	Pathogenic	2	47698202	47698202	G	C	criteria provided, single submitter	ClinGen:CA16610809
Deletion	NM_000251.3(MSH2):c.1796del (p.Val598_Leu599insTer)	MSH2	Pathogenic	2	47702199	47702199	GT	G	criteria provided, single submitter	ClinGen:CA16610813
single nucleotide variant	NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)	MSH2	Likely pathogenic	2	47705481	47705481	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610823
single nucleotide variant	NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)	MSH2	Pathogenic	2	47703661	47703661	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610828
single nucleotide variant	NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)	MSH2	Pathogenic	2	47630415	47630415	A	T	criteria provided, single submitter	ClinGen:CA16610843

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