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.1018dup (p.Arg340fs)	MSH2	Pathogenic	2	47643507	47643508	C	CA	reviewed by expert panel	ClinGen:CA331207
single nucleotide variant	NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)	MSH2	Likely pathogenic	2	47643514	47643514	T	C	reviewed by expert panel	ClinGen:CA016875
single nucleotide variant	NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)	MSH2	Pathogenic	2	47643526	47643526	G	A	reviewed by expert panel	ClinGen:CA016934
single nucleotide variant	NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)	MSH2	Pathogenic	2	47643527	47643527	G	A	reviewed by expert panel	ClinGen:CA016940
Duplication	NM_000251.3(MSH2):c.1037_1038dup (p.Lys347fs)	MSH2	Pathogenic	2	47643528	47643529	A	ATT	reviewed by expert panel	ClinGen:CA016954
single nucleotide variant	NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)	MSH2	Pathogenic	2	47643538	47643538	C	G	reviewed by expert panel	ClinGen:CA016981
single nucleotide variant	NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)	MSH2	Pathogenic	2	47643538	47643538	C	T	reviewed by expert panel	ClinGen:CA016990,UniProtKB:P43246#VAR_043763
Deletion	NM_000251.3(MSH2):c.1059del (p.Asn354fs)	MSH2	Pathogenic	2	47643551	47643551	AG	A	reviewed by expert panel	ClinGen:CA017006
single nucleotide variant	NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)	MSH2	Pathogenic	2	47643567	47643567	A	T	reviewed by expert panel	ClinGen:CA017051
single nucleotide variant	NM_000251.3(MSH2):c.1076+1G>A	MSH2	Pathogenic	2	47643569	47643569	G	A	reviewed by expert panel	ClinGen:CA017072

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