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_000251.1(MSH2):c.2459-?_(*272_?)del	MSH2	Pathogenic	2	47707835	47710360	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)	MSH2	Pathogenic	2	47707846	47707846	C	T	reviewed by expert panel	ClinGen:CA020635
Duplication	NM_000251.3(MSH2):c.2485_2498dup (p.Ala834fs)	MSH2	Pathogenic	2	47707859	47707860	T	TTCATGTTGCAGAGC	reviewed by expert panel	ClinGen:CA331522
Deletion	NM_000251.3(MSH2):c.2485del (p.His829fs)	MSH2	Pathogenic	2	47707861	47707861	TC	T	reviewed by expert panel	ClinGen:CA020639
Deletion	NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)	MSH2	Pathogenic	2	47707877	47707883	GCTAATTT	G	reviewed by expert panel	ClinGen:CA020647
Deletion	NM_000251.3(MSH2):c.2507del (p.Phe836fs)	MSH2	Pathogenic	2	47707881	47707881	AT	A	reviewed by expert panel	ClinGen:CA020658
Deletion	NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)	MSH2	Pathogenic	2	47707896	47707896	TA	T	reviewed by expert panel	ClinGen:CA020672
single nucleotide variant	NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)	MSH2	Pathogenic	2	47707912	47707912	C	T	reviewed by expert panel	ClinGen:CA020692
Deletion	NM_000251.3(MSH2):c.2545del (p.Leu849fs)	MSH2	Pathogenic	2	47707919	47707919	GC	G	reviewed by expert panel	ClinGen:CA020705
Deletion	NM_000251.3(MSH2):c.255_256del (p.Phe85fs)	MSH2	Pathogenic	2	47635583	47635584	TTG	T	reviewed by expert panel	ClinGen:CA020716

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