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.790+2T>A	MLH1	Pathogenic	3	37056037	37056037	T	A	reviewed by expert panel	ClinGen:CA012153
single nucleotide variant	NM_000249.4(MLH1):c.790+2T>C	MLH1	Pathogenic	3	37056037	37056037	T	C	reviewed by expert panel	ClinGen:CA012162
Duplication	NM_000249.4(MLH1):c.790+2dup	MLH1	Pathogenic	3	37056036	37056037	G	GT	reviewed by expert panel	ClinGen:CA012136
single nucleotide variant	NM_000249.4(MLH1):c.790+3A>T	MLH1	Pathogenic/Likely pathogenic	3	37056038	37056038	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012172
single nucleotide variant	NM_000249.4(MLH1):c.790+4A>G	MLH1	Pathogenic/Likely pathogenic	3	37056039	37056039	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012193
single nucleotide variant	NM_000249.4(MLH1):c.790+5G>T	MLH1	Pathogenic	3	37056040	37056040	G	T	reviewed by expert panel	ClinGen:CA012201
single nucleotide variant	NM_000249.4(MLH1):c.791-1G>C	MLH1	Pathogenic	3	37058996	37058996	G	C	reviewed by expert panel	ClinGen:CA012277
single nucleotide variant	NM_000249.4(MLH1):c.791-1G>T	MLH1	Likely pathogenic	3	37058996	37058996	G	T	reviewed by expert panel	ClinGen:CA012290
single nucleotide variant	NM_000249.4(MLH1):c.791-2A>G	MLH1	Likely pathogenic	3	37058995	37058995	A	G	reviewed by expert panel	ClinGen:CA012308
Deletion	NM_000249.4(MLH1):c.791-4_795del	MLH1	Pathogenic	3	37058991	37058999	TGTTTAGATC	T	reviewed by expert panel	ClinGen:CA331124

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