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
Indel	NM_000179.3(MSH6):c.663_667delinsTAC (p.Glu221fs)	MSH6	Pathogenic	2	48025785	48025789	AGATA	TAC	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.864_865del (p.Gly289fs)	MSH6	Pathogenic	2	48025986	48025987	AAG	A	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.1619_1620del (p.Leu540fs)	MSH6	Pathogenic	2	48026741	48026742	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)	MSH6	Pathogenic	2	48026813	48026813	C	G	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000179.3(MSH6):c.1762_1763insT (p.His588fs)	MSH6	Pathogenic	2	48026884	48026885	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)	MSH6	Pathogenic	2	48027043	48027043	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.2725_2729del (p.Leu909fs)	MSH6	Pathogenic	2	48027844	48027848	AGAATT	A	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3134_3140del (p.Lys1045fs)	MSH6	Likely pathogenic	2	48028256	48028262	AAGGACTG	A	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3226dup (p.Arg1076fs)	MSH6	Pathogenic	2	48030611	48030612	T	TC	criteria provided, single submitter	-
Indel	NM_000179.3(MSH6):c.3254_3255delinsT (p.Thr1085fs)	MSH6	Pathogenic	2	48030640	48030641	CC	T	criteria provided, single submitter	-

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