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_000249.4(MLH1):c.1990-1G>T	MLH1	Likely pathogenic	3	37090394	37090394	G	T	reviewed by expert panel	ClinGen:CA008060
single nucleotide variant	NM_000249.4(MLH1):c.1990-2A>G	MLH1	Pathogenic	3	37090393	37090393	A	G	reviewed by expert panel	ClinGen:CA008068
Deletion	NM_000249.3(MLH1):c.1990-?_(*193_?)del	MLH1	Pathogenic	3	37090395	37092337	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)	MLH1	Pathogenic	3	37090403	37090403	G	A	reviewed by expert panel	ClinGen:CA008096
single nucleotide variant	NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	MLH1	Pathogenic	3	37038192	37038192	G	A	reviewed by expert panel	ClinGen:CA008104,UniProtKB:P40692#VAR_004439
Deletion	NM_000249.4(MLH1):c.19_35del (p.Val7fs)	MLH1	Pathogenic	3	37035057	37035073	GGTTATTCGGCGGCTGGA	G	reviewed by expert panel	ClinGen:CA007662
single nucleotide variant	NM_000249.4(MLH1):c.1A>G (p.Met1Val)	MLH1	Pathogenic	3	37035039	37035039	A	G	reviewed by expert panel	ClinGen:CA008127
Duplication	NM_000249.4(MLH1):c.2000dup (p.Asp667fs)	MLH1	Pathogenic	3	37090404	37090405	G	GA	reviewed by expert panel	ClinGen:CA008136
Deletion	NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs)	MLH1	Pathogenic	3	37090408	37090412	GAAGAA	G	reviewed by expert panel	ClinGen:CA008162
Deletion	NM_000249.4(MLH1):c.2009del (p.Lys670fs)	MLH1	Pathogenic	3	37090411	37090411	GA	G	reviewed by expert panel	ClinGen:CA008179

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