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

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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.1369del (p.Ser457fs)	APC	Pathogenic	5	112157647	112157647	CT	C	criteria provided, single submitter	ClinGen:CA004867,OMIM:611731.0003
single nucleotide variant	NM_000038.6(APC):c.1500T>G (p.Tyr500Ter)	APC	Pathogenic	5	112162896	112162896	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005243,OMIM:611731.0004
single nucleotide variant	NM_000038.6(APC):c.904C>T (p.Arg302Ter)	APC	Pathogenic	5	112151261	112151261	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015644,OMIM:611731.0002,OMIM:611731.0006
single nucleotide variant	NM_000038.6(APC):c.839C>G (p.Ser280Ter)	APC	Pathogenic	5	112151196	112151196	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015451,OMIM:611731.0007
single nucleotide variant	NM_000038.6(APC):c.2138C>G (p.Ser713Ter)	APC	Pathogenic	5	112173429	112173429	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007219,OMIM:611731.0008
single nucleotide variant	NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)	APC	Pathogenic	5	112175303	112175303	C	T	criteria provided, multiple submitters, no conflicts	OMIM:611731.0009,ClinGen:CA008865
single nucleotide variant	NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)	APC	Pathogenic	5	112174490	112174490	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008153,OMIM:611731.0011
single nucleotide variant	NM_000038.6(APC):c.1621C>T (p.Gln541Ter)	APC	Pathogenic	5	112163698	112163698	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005374,OMIM:611731.0014
single nucleotide variant	NM_000038.6(APC):c.1660C>T (p.Arg554Ter)	APC	Pathogenic	5	112164586	112164586	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005424,OMIM:611731.0015
single nucleotide variant	NM_000038.6(APC):c.1690C>T (p.Arg564Ter)	APC	Pathogenic	5	112164616	112164616	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005451,OMIM:611731.0016

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