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.3263dup (p.Glu1090fs)	MSH6	Pathogenic	2	48030647	48030648	C	CT	reviewed by expert panel	ClinGen:CA012353
Deletion	NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)	MSH6	Pathogenic	2	48030650	48030656	TCTTAGAG	T	reviewed by expert panel	ClinGen:CA012392
Duplication	NM_000179.3(MSH6):c.3273dup (p.Lys1092Ter)	MSH6	Pathogenic	2	48030657	48030658	C	CT	reviewed by expert panel	ClinGen:CA012410
Deletion	NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)	MSH6	Pathogenic	2	48030692	48030693	CTT	C	reviewed by expert panel	ClinGen:CA012534,OMIM:600678.0009
Deletion	NM_000179.3(MSH6):c.3312del (p.Phe1104fs)	MSH6	Pathogenic	2	48030692	48030692	CT	C	reviewed by expert panel	ClinGen:CA012557
Deletion	NM_000179.3(MSH6):c.3320del (p.Asp1107fs)	MSH6	Pathogenic	2	48030706	48030706	GA	G	reviewed by expert panel	ClinGen:CA012574
Duplication	NM_000179.3(MSH6):c.3324dup (p.Ile1109fs)	MSH6	Pathogenic	2	48030706	48030707	A	AT	reviewed by expert panel	ClinGen:CA012588
Insertion	NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs)	MSH6	Pathogenic	2	48030727	48030728	T	TC	reviewed by expert panel	ClinGen:CA012651
single nucleotide variant	NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)	MSH6	Pathogenic	2	48030741	48030741	G	T	reviewed by expert panel	ClinGen:CA012669
single nucleotide variant	NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)	MSH6	Pathogenic	2	48030753	48030753	G	T	reviewed by expert panel	ClinGen:CA012699

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