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.1757C>G (p.Ser586Ter)	MSH2	Pathogenic	2	47698199	47698199	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346728237
single nucleotide variant	NM_000251.3(MSH2):c.1759G>T (p.Gly587Cys)	MSH2	Pathogenic	2	47698201	47698201	G	T	criteria provided, single submitter	ClinGen:CA346728239
Duplication	NM_000251.3(MSH2):c.1809dup (p.Ala604fs)	MSH2	Pathogenic	2	47702212	47702213	A	AT	criteria provided, single submitter	ClinGen:CA645369156
Deletion	NM_000251.3(MSH2):c.1834del (p.Ser612fs)	MSH2	Pathogenic	2	47702238	47702238	GT	G	criteria provided, single submitter	ClinGen:CA645369218
Duplication	NM_000251.3(MSH2):c.1838dup (p.Asn613fs)	MSH2	Pathogenic/Likely pathogenic	2	47702239	47702240	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369219
Deletion	NM_000251.3(MSH2):c.1843_1844del (p.Ala615fs)	MSH2	Pathogenic	2	47702247	47702248	AGC	A	criteria provided, single submitter	ClinGen:CA645369220
single nucleotide variant	NM_000251.3(MSH2):c.1888G>T (p.Gly630Ter)	MSH2	Pathogenic	2	47702292	47702292	G	T	criteria provided, single submitter	ClinGen:CA346728551
single nucleotide variant	NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)	MSH2	Pathogenic	2	47702305	47702305	T	G	criteria provided, single submitter	ClinGen:CA346728596
Indel	NM_000251.3(MSH2):c.1924_1928delinsTTTC (p.Val642fs)	MSH2	Pathogenic	2	47702328	47702332	GTTGA	TTTC	criteria provided, single submitter	ClinGen:CA645369221
Deletion	NM_000251.3(MSH2):c.1930del (p.Val644fs)	MSH2	Pathogenic	2	47702334	47702334	AG	A	criteria provided, single submitter	ClinGen:CA645369222

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