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_000179.3(MSH6):c.1243C>T (p.Gln415Ter)	MSH6	Pathogenic	2	48026365	48026365	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346743776
Deletion	NM_000179.3(MSH6):c.1275_1276del (p.Ile425fs)	MSH6	Pathogenic	2	48026396	48026397	ATC	A	criteria provided, single submitter	ClinGen:CA645369243
single nucleotide variant	NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)	MSH6	Pathogenic	2	48026421	48026421	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346744258
Duplication	NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)	MSH6	Pathogenic	2	48026549	48026550	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369246
Indel	NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)	MSH6	Pathogenic	2	48026571	48026584	GGAACAGACTGAGA	AGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369249
single nucleotide variant	NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)	MSH6	Pathogenic	2	48026572	48026572	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346745692
Deletion	NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)	MSH6	Pathogenic	2	48026580	48026581	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA532705467
Deletion	NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)	MSH6	Pathogenic/Likely pathogenic	2	48026693	48026694	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369250
Deletion	NM_000179.3(MSH6):c.1669_1670del (p.Gly557fs)	MSH6	Pathogenic	2	48026791	48026792	TGG	T	criteria provided, single submitter	ClinGen:CA645369251
Deletion	NM_000179.3(MSH6):c.1767del (p.Pro591fs)	MSH6	Pathogenic/Likely pathogenic	2	48026889	48026889	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369235

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