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.1764T>G (p.Tyr588Ter)	MSH2	Pathogenic	2	47702168	47702168	T	G	reviewed by expert panel	ClinGen:CA019239
Insertion	NM_000251.3(MSH2):c.1771_1772insA (p.Pro591fs)	MSH2	Pathogenic	2	47702175	47702176	C	CA	reviewed by expert panel	ClinGen:CA019250
single nucleotide variant	NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)	MSH2	Pathogenic	2	47702181	47702181	C	T	reviewed by expert panel	ClinGen:CA019278
Deletion	NM_000251.3(MSH2):c.1779_1782del (p.Gln593fs)	MSH2	Pathogenic	2	47702181	47702184	GCAGA	G	reviewed by expert panel	ClinGen:CA019282
Insertion	NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs)	MSH2	Pathogenic	2	47702185	47702186	C	CCT	reviewed by expert panel	ClinGen:CA019286
Duplication	NM_000251.3(MSH2):c.1787dup (p.Asn596fs)	MSH2	Pathogenic	2	47702189	47702190	C	CA	reviewed by expert panel	ClinGen:CA331380
Deletion	NM_000251.3(MSH2):c.1788_1789del (p.Asn596fs)	MSH2	Pathogenic	2	47702192	47702193	ATG	A	reviewed by expert panel	ClinGen:CA019310
single nucleotide variant	NM_000251.3(MSH2):c.1799C>T (p.Ala600Val)	MSH2	Likely pathogenic	2	47702203	47702203	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019334,UniProtKB:P43246#VAR_043771
single nucleotide variant	NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)	MSH2	Likely pathogenic	2	47702212	47702212	A	G	reviewed by expert panel	ClinGen:CA019354
Deletion	NM_000251.3(MSH2):c.1809del (p.Asp603fs)	MSH2	Pathogenic	2	47702213	47702213	AT	A	reviewed by expert panel	ClinGen:CA019359

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