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.1111G>T (p.Glu371Ter)	MSH2	Pathogenic	2	47656915	47656915	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000251.3(MSH2):c.1265_1269delinsGAAAAG (p.Glu422fs)	MSH2	Pathogenic	2	47657069	47657073	AAAAA	GAAAAG	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.1515T>A (p.Tyr505Ter)	MSH6	Pathogenic	2	48026637	48026637	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)	MSH6	Pathogenic	2	48026637	48026637	T	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.2079del (p.Lys693fs)	MSH6	Pathogenic	2	48027196	48027196	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)	MSH6	Pathogenic	2	48027508	48027508	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)	MSH6	Pathogenic	2	48028140	48028140	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3276dup (p.Gly1093fs)	MSH6	Pathogenic	2	48030659	48030660	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.3556+1G>C	MSH6	Pathogenic	2	48032167	48032167	G	C	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3811_3824del (p.Met1270_Val1271insTer)	MSH6	Pathogenic	2	48033597	48033610	CATGGTAGAAAATGA	C	criteria provided, single submitter	-

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