家族性大腸腺腫症 - MGenReviews

家族性大腸腺腫症

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
Deletion	NC_000005.10:g.(?_112775619)_(112801393_?)del	APC	Pathogenic	5	112111316	112137090	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_80775684)_(80775768_?)del	MSH3	Pathogenic	5	80071503	80071587	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.358+2T>G	MSH3	Likely pathogenic	5	79952352	79952352	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.1341-2A>C	MSH3	Likely pathogenic	5	80021270	80021270	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.1896+2T>C	MSH3	Likely pathogenic	5	80057499	80057499	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.2436-1G>A	MSH3	Pathogenic/Likely pathogenic	5	80083383	80083383	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.1764-1G>A	MSH3	Likely pathogenic	5	80057364	80057364	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.792+1G>A	MSH3	Likely pathogenic	5	79966129	79966129	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.1568+1G>A	MSH3	Likely pathogenic	5	80024785	80024785	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.2655+1G>A	MSH3	Likely pathogenic	5	80088664	80088664	G	A	criteria provided, multiple submitters, no conflicts	-

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