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.1144dup (p.Arg382fs)	MSH2	Pathogenic	2	47656947	47656948	T	TC	reviewed by expert panel	ClinGen:CA017345
single nucleotide variant	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2	Pathogenic	2	47656951	47656951	C	T	reviewed by expert panel	ClinGen:CA017356
single nucleotide variant	NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	MSH2	Pathogenic	2	47656969	47656969	C	T	reviewed by expert panel	ClinGen:CA017391
single nucleotide variant	NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)	MSH2	Pathogenic	2	47656987	47656987	C	T	reviewed by expert panel	ClinGen:CA017425
single nucleotide variant	NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)	MSH2	Pathogenic	2	47656993	47656993	C	T	reviewed by expert panel	ClinGen:CA017437
Duplication	NM_000251.3(MSH2):c.1192dup (p.Ala398fs)	MSH2	Pathogenic	2	47656995	47656996	A	AG	reviewed by expert panel	ClinGen:CA017458
Duplication	NM_000251.3(MSH2):c.1196_1197dup (p.Asn400fs)	MSH2	Pathogenic	2	47656999	47657000	G	GCA	reviewed by expert panel	ClinGen:CA017468
Deletion	NM_000251.3(MSH2):c.119del (p.Gly40fs)	MSH2	Pathogenic	2	47630446	47630446	CG	C	reviewed by expert panel	ClinGen:CA017473
Duplication	NM_000251.3(MSH2):c.1203dup (p.Gln402fs)	MSH2	Pathogenic	2	47657006	47657007	T	TA	reviewed by expert panel	ClinGen:CA017482
single nucleotide variant	NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)	MSH2	Pathogenic	2	47657008	47657008	C	T	reviewed by expert panel	ClinGen:CA017497

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