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
Duplication	NM_000179.3(MSH6):c.2296dup (p.His766fs)	MSH6	Pathogenic	2	48027416	48027417	G	GC	criteria provided, single submitter	ClinGen:CA645369263
Deletion	NM_000179.3(MSH6):c.2521del (p.Arg841fs)	MSH6	Pathogenic	2	48027643	48027643	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369252
Deletion	NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs)	MSH6	Pathogenic	2	48027739	48027740	AGG	A	criteria provided, single submitter	ClinGen:CA645369253
Indel	NM_000179.3(MSH6):c.2656_2668delinsTCTAAA (p.Ile886fs)	MSH6	Pathogenic	2	48027778	48027790	ATCCTTAAGCAGG	TCTAAA	criteria provided, single submitter	ClinGen:CA645369254
Deletion	NM_000179.3(MSH6):c.2759del (p.Lys920fs)	MSH6	Pathogenic/Likely pathogenic	2	48027878	48027878	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369255
Deletion	NM_000179.3(MSH6):c.2812del (p.Asp938fs)	MSH6	Pathogenic	2	48027934	48027934	TG	T	criteria provided, single submitter	ClinGen:CA645369256
Deletion	NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)	MSH6	Pathogenic	2	48027984	48027984	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369257
single nucleotide variant	NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)	MSH6	Pathogenic	2	48028032	48028032	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346756153
Deletion	NM_000179.3(MSH6):c.2913del (p.Ile972fs)	MSH6	Pathogenic	2	48028031	48028031	TG	T	criteria provided, single submitter	ClinGen:CA645369258
Deletion	NM_000179.3(MSH6):c.3021del (p.Tyr1006_Trp1007insTer)	MSH6	Pathogenic	2	48028142	48028142	TG	T	criteria provided, single submitter	ClinGen:CA011358

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