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	NM_000038.6(APC):c.2098del (p.Asp700fs)	APC	Pathogenic	5	112173387	112173387	TG	T	criteria provided, single submitter	ClinGen:CA16611583
Deletion	NM_000038.6(APC):c.2133del (p.His712fs)	APC	Pathogenic	5	112173423	112173423	AT	A	criteria provided, single submitter	ClinGen:CA16611585
single nucleotide variant	NM_000038.6(APC):c.2309C>G (p.Ser770Ter)	APC	Pathogenic	5	112173600	112173600	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16026394
single nucleotide variant	NM_000038.6(APC):c.2795C>A (p.Ser932Ter)	APC	Pathogenic	5	112174086	112174086	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027426
single nucleotide variant	NM_000038.6(APC):c.3827C>A (p.Ser1276Ter)	APC	Pathogenic	5	112175118	112175118	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029729
single nucleotide variant	NM_000038.6(APC):c.1312+5G>A	APC	Pathogenic	5	112155046	112155046	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611621
single nucleotide variant	NM_000038.6(APC):c.1626+3A>G	APC	Likely pathogenic	5	112163706	112163706	A	G	reviewed by expert panel	ClinGen:CA16611623
Duplication	NM_000038.6(APC):c.1759dup (p.Ser587fs)	APC	Pathogenic	5	112170659	112170660	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611624
single nucleotide variant	NM_000038.6(APC):c.2240C>G (p.Ser747Ter)	APC	Pathogenic	5	112173531	112173531	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16026241
Deletion	NC_000005.10:g.(?_112780790)_(112846239_?)del	APC	Pathogenic	5	112116487	112181936	na	na	criteria provided, single submitter	-

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