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

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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_000251.3(MSH2):c.1344del (p.Lys449fs)	MSH2	Pathogenic	2	47672753	47672753	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577972
single nucleotide variant	NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)	MSH2	Pathogenic/Likely pathogenic	2	47690173	47690173	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577974
Deletion	NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs)	MSH2	Pathogenic	2	47690245	47690246	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577977
Duplication	NM_000251.3(MSH2):c.1782dup (p.Leu595fs)	MSH2	Pathogenic	2	47702185	47702186	C	CA	criteria provided, single submitter	ClinGen:CA10577986
Indel	NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)	MSH2	Pathogenic	2	47702408	47702408	T	CA	criteria provided, single submitter	ClinGen:CA10577993
single nucleotide variant	NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)	MSH2	Likely pathogenic	2	47703599	47703599	C	A	criteria provided, single submitter	ClinGen:CA10577997
single nucleotide variant	NM_000251.3(MSH2):c.2634+2T>G	MSH2	Pathogenic	2	47708012	47708012	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578012
single nucleotide variant	NM_000179.3(MSH6):c.3G>T (p.Met1Ile)	MSH6	Likely pathogenic	2	48010375	48010375	G	T	reviewed by expert panel	ClinGen:CA10578019
Deletion	NM_000179.3(MSH6):c.170_182del (p.Pro57fs)	MSH6	Pathogenic	2	48010539	48010551	GGGCCCAGGCCCTT	G	criteria provided, single submitter	ClinGen:CA10578026
Duplication	NM_000179.3(MSH6):c.1059dup (p.Gly354fs)	MSH6	Pathogenic	2	48026180	48026181	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578058

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