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_000251.3(MSH2):c.1204del (p.Gln402fs)	MSH2	Pathogenic	2	47657008	47657008	AC	A	reviewed by expert panel	ClinGen:CA017502
single nucleotide variant	NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)	MSH2	Pathogenic	2	47657019	47657019	C	A	reviewed by expert panel	ClinGen:CA017512
Duplication	NM_000251.3(MSH2):c.1216_1219dup (p.Leu407fs)	MSH2	Pathogenic	2	47657017	47657018	T	TACCG	reviewed by expert panel	ClinGen:CA017535
Duplication	NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)	MSH2	Pathogenic	2	47657025	47657026	C	CT	reviewed by expert panel	ClinGen:CA017555
Deletion	NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	MSH2	Pathogenic	2	47657030	47657031	CAG	C	reviewed by expert panel	ClinGen:CA017594
single nucleotide variant	NM_000251.3(MSH2):c.1241T>C (p.Leu414Pro)	MSH2	Likely pathogenic	2	47657045	47657045	T	C	criteria provided, single submitter	ClinGen:CA017631
Deletion	NM_000251.3(MSH2):c.1243_1246del (p.Pro415fs)	MSH2	Pathogenic	2	47657044	47657047	ACTAC	A	reviewed by expert panel	ClinGen:CA017636
Deletion	NM_000251.3(MSH2):c.1249_1253del (p.Val417fs)	MSH2	Pathogenic	2	47657051	47657055	AATGTT	A	reviewed by expert panel	ClinGen:CA017650
Deletion	NM_000251.3(MSH2):c.1249del (p.Val417fs)	MSH2	Pathogenic	2	47657053	47657053	TG	T	reviewed by expert panel	ClinGen:CA017658
single nucleotide variant	NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)	MSH2	Pathogenic	2	47657059	47657059	C	T	reviewed by expert panel	ClinGen:CA017677

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