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
single nucleotide variant	NM_000038.6(APC):c.6871C>T (p.Gln2291Ter)	APC	Pathogenic	5	112178162	112178162	C	T	criteria provided, single submitter	-
Duplication	NC_000005.9:g.(?_112072721)_(112090728_?)dup	APC	Likely pathogenic	5	112072721	112090728	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.266C>A (p.Ser89Ter)	APC	Pathogenic	5	112102931	112102931	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.989del (p.Met330fs)	APC	Pathogenic	5	112154718	112154718	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1111G>T (p.Gly371Ter)	APC	Pathogenic	5	112154840	112154840	G	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1829del (p.Asp610fs)	APC	Pathogenic	5	112170733	112170733	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.2299C>T (p.Gln767Ter)	APC	Pathogenic	5	112173590	112173590	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.2336T>G (p.Leu779Ter)	APC	Pathogenic	5	112173627	112173627	T	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2338del (p.Ser780fs)	APC	Pathogenic	5	112173628	112173628	TA	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2485del (p.Thr829fs)	APC	Pathogenic	5	112173776	112173776	TA	T	criteria provided, multiple submitters, no conflicts	-

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