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
Deletion	NM_000251.3(MSH2):c.1023del (p.Val342fs)	MSH2	Pathogenic/Likely pathogenic	2	47643514	47643514	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350770
single nucleotide variant	NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)	MSH2	Pathogenic	2	47693849	47693849	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349667
Deletion	NM_000251.3(MSH2):c.1662-12_1677del	MSH2	Likely pathogenic	2	47698092	47698119	TTTCGATTTGCAGCAAATTGACTTCTTTA	T	criteria provided, single submitter	ClinGen:CA349059
Deletion	NM_000251.3(MSH2):c.1963_1964del (p.Val655fs)	MSH2	Pathogenic	2	47702367	47702368	CGT	C	criteria provided, single submitter	ClinGen:CA348984
single nucleotide variant	NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)	MSH6	Pathogenic	2	48026509	48026509	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA350847
single nucleotide variant	NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)	MSH6	Pathogenic/Likely pathogenic	2	48026813	48026813	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349097
Deletion	NM_000179.3(MSH6):c.2137del (p.Asp713fs)	MSH6	Pathogenic	2	48027258	48027258	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA348005
Indel	NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)	MSH6	Pathogenic	2	48027430	48027434	GGTAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349076
single nucleotide variant	NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)	MSH6	Pathogenic	2	48032136	48032136	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA348519
single nucleotide variant	NM_000249.4(MLH1):c.381-1G>A	MLH1	Pathogenic/Likely pathogenic	3	37048481	37048481	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350036

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