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.1219del (p.Leu407fs)	APC	Pathogenic	5	112154947	112154947	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369345
single nucleotide variant	NM_000038.6(APC):c.1251T>A (p.Cys417Ter)	APC	Pathogenic	5	112154980	112154980	T	A	criteria provided, single submitter	ClinGen:CA16024038
single nucleotide variant	NM_000038.6(APC):c.1312+2T>C	APC	Pathogenic	5	112155043	112155043	T	C	criteria provided, single submitter	ClinGen:CA360619194
Deletion	NM_000038.6(APC):c.1464_1467del (p.Thr489fs)	APC	Pathogenic	5	112162858	112162861	GCTTA	G	criteria provided, single submitter	ClinGen:CA645369348
single nucleotide variant	NM_000038.6(APC):c.1548G>A (p.Lys516=)	APC	Pathogenic/Likely pathogenic	5	112162944	112162944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA445756204
single nucleotide variant	NM_000038.6(APC):c.1548+1G>C	APC	Pathogenic	5	112162945	112162945	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA360619893
single nucleotide variant	NM_000038.6(APC):c.1548+1G>T	APC	Pathogenic	5	112162945	112162945	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360619894
Indel	NM_000038.6(APC):c.1617delinsTGT (p.Leu540fs)	APC	Pathogenic	5	112163694	112163694	C	TGT	criteria provided, single submitter	ClinGen:CA645369320
Deletion	NM_000038.6(APC):c.1657del (p.Trp553fs)	APC	Pathogenic	5	112164582	112164582	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369350
single nucleotide variant	NM_000038.6(APC):c.1743G>C (p.Lys581Asn)	APC	Likely pathogenic	5	112164669	112164669	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025124

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