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
single nucleotide variant	NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)	MSH2	Pathogenic	2	47703587	47703587	C	T	reviewed by expert panel	ClinGen:CA019979,UniProtKB:P43246#VAR_054519
single nucleotide variant	NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)	MSH2	Pathogenic	2	47703589	47703589	T	C	reviewed by expert panel	ClinGen:CA019984,UniProtKB:P43246#VAR_009251
single nucleotide variant	NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)	MSH2	Pathogenic	2	47703590	47703590	G	T	reviewed by expert panel	ClinGen:CA019999,UniProtKB:P43246#VAR_004486
single nucleotide variant	NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)	MSH2	Pathogenic	2	47703591	47703591	T	A	reviewed by expert panel	ClinGen:CA020005
single nucleotide variant	NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)	MSH2	Pathogenic	2	47703596	47703596	C	G	reviewed by expert panel	ClinGen:CA020010
Deletion	NM_000251.3(MSH2):c.20del (p.Glu7fs)	MSH2	Pathogenic	2	47630350	47630350	GA	G	reviewed by expert panel	ClinGen:CA020019
Deletion	NM_000251.1(MSH2):c.211+1566_1277-3954del	MSH2	Pathogenic	2	47632107	47668733	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.212-1G>A	MSH2	Pathogenic	2	47635539	47635539	G	A	reviewed by expert panel	ClinGen:CA020080
single nucleotide variant	NM_000251.3(MSH2):c.212-2A>G	MSH2	Likely pathogenic	2	47635538	47635538	A	G	reviewed by expert panel	ClinGen:CA020085
single nucleotide variant	NM_000251.3(MSH2):c.212-478T>G	MSH2	Pathogenic	2	47635062	47635062	T	G	reviewed by expert panel	ClinGen:CA020095

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