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
Duplication	NM_000038.6(APC):c.475dup (p.Tyr159fs)	APC	Pathogenic	5	112111376	112111377	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279827
single nucleotide variant	NM_000038.6(APC):c.487C>T (p.Gln163Ter)	APC	Pathogenic	5	112111390	112111390	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279721
Deletion	NM_000038.6(APC):c.524_531+4del	APC	Pathogenic/Likely pathogenic	5	112111424	112111435	TTAACTGAAAATG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279786
single nucleotide variant	NM_000038.6(APC):c.531+2T>A	APC	Pathogenic/Likely pathogenic	5	112111436	112111436	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279737
single nucleotide variant	NM_000038.6(APC):c.531+2T>C	APC	Pathogenic	5	112111436	112111436	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279807
single nucleotide variant	NM_000038.6(APC):c.541C>T (p.Gln181Ter)	APC	Pathogenic	5	112116496	112116496	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279657
single nucleotide variant	NM_000038.6(APC):c.645+1G>A	APC	Likely pathogenic	5	112116601	112116601	G	A	reviewed by expert panel	ClinGen:CA279701
Deletion	NM_000038.6(APC):c.677del (p.Lys226fs)	APC	Pathogenic/Likely pathogenic	5	112128171	112128171	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279704
Deletion	NM_000038.6(APC):c.800del (p.Gly267fs)	APC	Pathogenic	5	112137044	112137044	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279748
single nucleotide variant	NM_000038.6(APC):c.1045C>T (p.Gln349Ter)	APC	Pathogenic	5	112154774	112154774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279782

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