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_000535.7(PMS2):c.23+1G>T	PMS2	Pathogenic/Likely pathogenic	7	6048627	6048627	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011233
Duplication	NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)	MSH6	Pathogenic	2	48032085	48032086	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA166781
Deletion	NM_000179.3(MSH6):c.626_627+15del	MSH6	Pathogenic	2	48023200	48023216	GGAGGTGGGACACGGCAA	G	criteria provided, single submitter	ClinGen:CA167078
Deletion	NM_000249.4(MLH1):c.984_997del (p.His329fs)	MLH1	Pathogenic/Likely pathogenic	3	37061896	37061909	CAGCAGCACATCGAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013439
Duplication	NM_000179.3(MSH6):c.2779dup (p.Ile927fs)	MSH6	Pathogenic	2	48027900	48027901	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA010899
Duplication	NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)	MSH6	Pathogenic	2	48033767	48033768	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA014981
single nucleotide variant	NM_000535.7(PMS2):c.2007-2A>C	PMS2	Pathogenic	7	6022624	6022624	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010693
single nucleotide variant	NM_000251.3(MSH2):c.792+2T>C	MSH2	Likely pathogenic	2	47639701	47639701	T	C	criteria provided, single submitter	ClinGen:CA022278
Duplication	NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)	MSH2	Pathogenic	2	47630453	47630454	C	CTTCT	criteria provided, single submitter	ClinGen:CA017606
single nucleotide variant	NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)	MSH2	Likely pathogenic	2	47693854	47693854	T	C	criteria provided, single submitter	ClinGen:CA018632

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