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.2474del (p.Ser825fs)	MSH2	Pathogenic	2	47707850	47707850	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.2481del (p.Ile828fs)	MSH2	Pathogenic	2	47707855	47707855	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)	MSH2	Pathogenic	2	47708002	47708002	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.103_113del (p.Ala35fs)	MSH6	Pathogenic	2	48010473	48010483	GCCGCCGCTGCC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.313del (p.Trp105fs)	MSH6	Pathogenic	2	48018118	48018118	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)	MSH6	Pathogenic	2	48018154	48018155	G	GGAAC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.463A>T (p.Lys155Ter)	MSH6	Pathogenic	2	48023038	48023038	A	T	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.564dup (p.Lys189Ter)	MSH6	Pathogenic	2	48023137	48023138	A	AT	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.644dup (p.Thr216fs)	MSH6	Pathogenic	2	48025765	48025766	G	GT	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.694_700del (p.Gln232fs)	MSH6	Pathogenic	2	48025814	48025820	GTACAGCC	G	criteria provided, single submitter	-

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