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.1530_1548+10del	APC	Likely pathogenic	5	112162923	112162951	CTTTTGGAGATGTAGCCAACAAGGTATGTT	C	criteria provided, single submitter	ClinGen:CA658655939
Duplication	NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter)	APC	Pathogenic	5	112162933	112162934	G	GTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655940
Duplication	NM_000038.6(APC):c.1633dup (p.Ala545fs)	APC	Pathogenic	5	112164558	112164559	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655949
single nucleotide variant	NM_000038.6(APC):c.1983T>A (p.Cys661Ter)	APC	Pathogenic	5	112173274	112173274	T	A	criteria provided, single submitter	ClinGen:CA16025651
Duplication	NM_000038.6(APC):c.3090dup (p.Tyr1031fs)	APC	Pathogenic	5	112174378	112174379	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655908
Deletion	NM_000038.6(APC):c.4290del (p.Met1431fs)	APC	Pathogenic	5	112175580	112175580	AC	A	criteria provided, single submitter	ClinGen:CA445964441
Deletion	NM_000038.6(APC):c.5524del (p.Ser1842fs)	APC	Pathogenic	5	112176814	112176814	AT	A	criteria provided, single submitter	ClinGen:CA658655972
Deletion	NM_000038.6(APC):c.74_75del (p.Gln25fs)	APC	Pathogenic	5	112090661	112090662	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657468
Deletion	NM_000038.6(APC):c.684_687del (p.Leu229fs)	APC	Pathogenic	5	112128180	112128183	ATACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645546038
single nucleotide variant	NM_000038.6(APC):c.802G>T (p.Glu268Ter)	APC	Pathogenic	5	112137048	112137048	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16023083

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