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.715C>T (p.Gln239Ter)	MSH2	Pathogenic	2	47639622	47639622	C	T	reviewed by expert panel	ClinGen:CA022086
Indel	NM_000251.3(MSH2):c.717_721delinsTTA (p.Gln239fs)	MSH2	Pathogenic	2	47639624	47639628	GGACC	TTA	reviewed by expert panel	ClinGen:CA022098
Duplication	NM_000251.3(MSH2):c.71dup (p.Met26fs)	MSH2	Pathogenic	2	47630400	47630401	C	CA	reviewed by expert panel	ClinGen:CA331667
Duplication	NM_000251.3(MSH2):c.725dup (p.Asn242fs)	MSH2	Pathogenic	2	47639630	47639631	C	CA	reviewed by expert panel	ClinGen:CA331668
Duplication	NM_000251.3(MSH2):c.735dup (p.Lys246fs)	MSH2	Pathogenic	2	47639641	47639642	T	TG	reviewed by expert panel	ClinGen:CA022114
single nucleotide variant	NM_000251.3(MSH2):c.736A>T (p.Lys246Ter)	MSH2	Pathogenic	2	47639643	47639643	A	T	reviewed by expert panel	ClinGen:CA022126
Insertion	NM_000251.3(MSH2):c.73_74insC (p.Gly25fs)	MSH2	Pathogenic	2	47630403	47630404	G	GC	reviewed by expert panel	ClinGen:CA022132
Deletion	NM_000251.3(MSH2):c.746del (p.Lys249fs)	MSH2	Pathogenic	2	47639649	47639649	CA	C	reviewed by expert panel	ClinGen:CA022155
single nucleotide variant	NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)	MSH2	Pathogenic	2	47639661	47639661	C	T	reviewed by expert panel	ClinGen:CA022185
Deletion	NM_000251.3(MSH2):c.759_762del (p.Met253fs)	MSH2	Pathogenic	2	47639664	47639667	GATGA	G	reviewed by expert panel	ClinGen:CA022190

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