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_000251.3(MSH2):c.255dup (p.Glu86Ter)	MSH2	Pathogenic	2	47635579	47635580	A	AT	reviewed by expert panel	ClinGen:CA020720
single nucleotide variant	NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)	MSH2	Pathogenic	2	47707951	47707951	G	T	reviewed by expert panel	ClinGen:CA020766
single nucleotide variant	NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)	MSH2	Pathogenic	2	47707955	47707955	C	A	reviewed by expert panel	ClinGen:CA020773
single nucleotide variant	NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)	MSH2	Pathogenic	2	47707957	47707957	C	T	reviewed by expert panel	ClinGen:CA020783
Deletion	NM_000251.3(MSH2):c.2593_2597del (p.Ile865fs)	MSH2	Pathogenic	2	47707967	47707971	GATATC	G	reviewed by expert panel	ClinGen:CA020790
Insertion	NM_000251.2(MSH2):c.2620_2621ins115 (p.?)	MSH2	Pathogenic	2	47707996	47707997	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)	MSH2	Pathogenic	2	47707998	47707998	T	A	reviewed by expert panel	ClinGen:CA020820
single nucleotide variant	NM_000251.3(MSH2):c.2634+1G>A	MSH2	Likely pathogenic	2	47708011	47708011	G	A	reviewed by expert panel	ClinGen:CA020828
single nucleotide variant	NM_000251.3(MSH2):c.2634+1G>T	MSH2	Likely pathogenic	2	47708011	47708011	G	T	reviewed by expert panel	ClinGen:CA020831
single nucleotide variant	NM_000251.3(MSH2):c.2634+5G>C	MSH2	Pathogenic	2	47708015	47708015	G	C	reviewed by expert panel	ClinGen:CA020838

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