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.870_874del (p.Glu290fs)	MSH2	Pathogenic	2	47641482	47641486	TTGAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369207
single nucleotide variant	NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)	MSH2	Pathogenic	2	47641555	47641555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346733020
single nucleotide variant	NM_000251.3(MSH2):c.942+2T>A	MSH2	Pathogenic/Likely pathogenic	2	47641559	47641559	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346733028
Deletion	NM_000251.3(MSH2):c.959_962del (p.Thr320fs)	MSH2	Pathogenic	2	47643451	47643454	ACCAC	A	criteria provided, single submitter	ClinGen:CA645369195
Duplication	NM_000251.3(MSH2):c.989dup (p.Asn331fs)	MSH2	Pathogenic	2	47643480	47643481	C	CT	criteria provided, single submitter	ClinGen:CA645369196
single nucleotide variant	NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)	MSH2	Pathogenic	2	47643534	47643534	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346733213
Deletion	NM_000251.3(MSH2):c.1043del (p.Gln348fs)	MSH2	Pathogenic	2	47643535	47643535	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369202
Deletion	NM_000251.3(MSH2):c.1068del (p.Ile356fs)	MSH2	Pathogenic	2	47643560	47643560	TA	T	criteria provided, single submitter	ClinGen:CA645369204
Duplication	NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs)	MSH2	Pathogenic	2	47657050	47657051	A	AATGTTATACAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369192
Duplication	NM_000251.3(MSH2):c.1252dup (p.Ile418fs)	MSH2	Pathogenic	2	47657055	47657056	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369193

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