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_000179.3(MSH6):c.3398del (p.Thr1133fs)	MSH6	Pathogenic	2	48030784	48030784	AC	A	criteria provided, single submitter	ClinGen:CA658655698
Deletion	NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)	MSH6	Pathogenic	2	48032122	48032132	GATAGAGTGTTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA532705778
single nucleotide variant	NM_000179.3(MSH6):c.3646+2T>C	MSH6	Likely pathogenic	2	48032848	48032848	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346760643
single nucleotide variant	NM_000179.3(MSH6):c.1308C>G (p.Tyr436Ter)	MSH6	Pathogenic	2	48026430	48026430	C	G	criteria provided, single submitter	ClinGen:CA346744337
Duplication	NM_000179.3(MSH6):c.1328dup (p.Val444fs)	MSH6	Pathogenic	2	48026448	48026449	T	TG	criteria provided, single submitter	ClinGen:CA658655749
Indel	NM_000179.3(MSH6):c.3851delinsTTAAT (p.Thr1284fs)	MSH6	Pathogenic	2	48033640	48033640	C	TTAAT	criteria provided, single submitter	ClinGen:CA658655755
Deletion	NM_000179.3(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer)	MSH6	Pathogenic	2	48033642	48033649	GTTCCTCTA	G	criteria provided, single submitter	ClinGen:CA658655757
single nucleotide variant	NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)	MSH6	Pathogenic	2	48026545	48026545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346745416
Deletion	NM_000179.3(MSH6):c.1299del (p.Phe432_Tyr433insTer)	MSH6	Pathogenic	2	48026421	48026421	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655748
Deletion	NC_000003.12:g.(?_36993051)_(37017605_?)del	MLH1	Pathogenic	3	37034542	37059096	na	na	criteria provided, single submitter	-

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