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

1
...
87
88
89
90
91
...
287

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.1528C>T (p.Gln510Ter)	MSH2	Pathogenic	2	47693814	47693814	C	T	reviewed by expert panel	ClinGen:CA018553
Insertion	NM_000251.3(MSH2):c.154_155insG (p.Leu52fs)	MSH2	Pathogenic	2	47630484	47630485	C	CG	reviewed by expert panel	ClinGen:CA018572
single nucleotide variant	NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)	MSH2	Pathogenic	2	47693838	47693838	C	T	reviewed by expert panel	ClinGen:CA018597
single nucleotide variant	NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)	MSH2	Pathogenic	2	47693852	47693852	C	G	reviewed by expert panel	ClinGen:CA018620
Deletion	NM_000251.3(MSH2):c.1576del (p.Thr526fs)	MSH2	Pathogenic	2	47693861	47693861	TA	T	reviewed by expert panel	ClinGen:CA018655
Deletion	NM_000251.3(MSH2):c.1578del (p.Cys527fs)	MSH2	Pathogenic	2	47693863	47693863	AC	A	reviewed by expert panel	ClinGen:CA018661
Deletion	NM_000251.3(MSH2):c.1587del (p.Glu530fs)	MSH2	Pathogenic	2	47693872	47693872	GA	G	reviewed by expert panel	ClinGen:CA018675
Duplication	NM_000251.3(MSH2):c.1594dup (p.Val532fs)	MSH2	Pathogenic	2	47693879	47693880	A	AG	reviewed by expert panel	ClinGen:CA018687
Deletion	NM_000251.3(MSH2):c.1627del (p.Asp543fs)	MSH2	Pathogenic	2	47693913	47693913	AG	A	reviewed by expert panel	ClinGen:CA018756
Duplication	NM_000251.3(MSH2):c.1638_1639dup (p.Asn547fs)	MSH2	Pathogenic	2	47693922	47693923	A	AAG	reviewed by expert panel	ClinGen:CA018769

1
...
87
88
89
90
91
...
287